Mixed Topics

Pelvic floor dysfunction (PFD) represents a spectrum of symptoms involving sensory and emptying abnormalities of the bowel and bladder and pelvic organ prolapse. The pelvic floor refers to a group of muscles that spans the pelvic outlet, providing support to the pelvic organs and coordinating constrictor mechanisms to control urination and defecation. Symptoms reported by patients experiencing PFD include involuntary loss of stool or urine, incomplete emptying of the bowel and bladder, a sensation of fullness, bulging in the vagina, and sexual dysfunction.¹

As such, symptoms related to PFD are very common concerns raised by patients to their gastroenterologists. Data from the National Health and Nutrition Examination Survey show that 23.7% of women over the age of 20 had at least one symptom of PFD.² Unfortunately, patients experiencing pelvic floor dysfunction often are hesitant to seek care because of embarrassment or perception that limited treatment options exist for their symptoms.
 

Pelvic Floor Anatomy

Regions of the pelvis are often referred to by anatomic compartment: anterior (bladder and urethra), middle (vagina and uterus or prostate), and posterior (colon, rectum, and anal canal). Supporting these compartments is the levator ani, a muscle group that is used synonymously with the term “pelvic diaphragm.”

University of Texas Medical Branch

Continence of stool is provided by the anal sphincter muscles and the puborectalis muscle, which wraps around the posterior aspect of the anorectal canal. Damage to the musculature or sensory perception to this area may result in fecal incontinence. Defecation is a coordinated process during which the abdominal and rectal muscles contract, while the anal sphincter muscles and puborectalis simultaneously relax. A disturbance in neuromuscular coordination (dyssynergic defecation) or structural pathology such as pelvic organ prolapse may lead to obstructed defecation.

PFD is thought to be a result of one or more insults to the pelvic floor such as chronic straining, childbirth, iatrogenic injury, or systemic disease such as diabetes.³
 

Evaluation of PFD Symptoms

Patients presenting with suspected PFD necessitate a comprehensive interdisciplinary assessment. In addition to obtaining a medical, surgical, and obstetric history, details about symptoms and lifestyle should include toileting habits, diet, and physical activity. The Pelvic Floor Distress Inventory (PFDI-20) is a commonly used tool that can be employed in the clinical setting.⁴

A pelvic exam can reveal pelvic organ prolapse and other mucosal pathology. The Pelvic Organ Prolapse Quantification System (POP-Q) is a widely used classification system for describing pelvic organ prolapse.⁵ Protrusion of the rectal wall into the vagina is referred to as a rectocele, while prolapse of small bowel into the upper posterior wall of the vagina is called an enterocele. While the finding of a rectocele on exam is common in parous women and may not cause any symptoms, a larger rectocele may cause a sensation of incomplete evacuation of stool.

University of Texas Medical Branch

Initial Management

A stepwise approach to the management of PFD can allow many patients to be effectively treated without the need for surgical intervention. For patients reporting liquid stool consistency, the evaluation should pivot toward the workup and management of diarrhea, which can easily overwhelm continence mechanisms and cause fecal incontinence. Fiber supplementation to normalize stool consistency is considered first-line therapy for patients presenting with both fecal incontinence and obstructed defecation. Other tools for fecal incontinence include avoiding foods that trigger diarrhea and use of loperamide.⁶ For patients with obstructed defecation, a trial of laxatives can be followed by a prescription agent if needed, such as a secretagogue or prokinetic.⁷

Vaginal splinting is a technique that can be used in patients with rectocele, whereby a finger is inserted into the vagina and pressure is applied on the posterior vaginal wall toward the rectum. Reducing the rectocele can facilitate emptying stool from the rectum and prevent leakage of retained stool.⁸ Similarly, use of rectal irrigation enemas can also help clear retained stool.

Pelvic floor physical therapists examine the strength, coordination, and tone of the pelvic floor muscles. When hypertonic musculature is present, manual interventions may be performed including trigger point release, myofascial release, and dry needling.⁹ When hypotonic musculature or dyssynergia is present, strengthening and neuromuscular re-education are recommended. Biofeedback can be administered via surface electromyography and/or balloon training to improve rectal sensitivity. Proper defecation techniques, including positioning, breathing, and behavioral modifications, improve clinical outcomes.

University of Texas Medical Branch

Diagnostic Testing

For patients who do not improve with conservative management, further testing is recommended to characterize the underlying pathology. Typically, anorectal manometry (ARM) is performed in conjunction with the balloon expulsion test and imaging. Each modality has its strengths and limitations (see Table 1).

ARM allows for the assessment of rectal sensation and recto-anal pressures and coordination.¹⁰

Dynamic imaging, by barium defecography under fluoroscopy or MRI, captures anatomy at rest and with simulated defecation to identify pelvic organ prolapse, compartmental defects, and organ mobility.¹¹ Endoanal ultrasonography is considered in patients experiencing fecal incontinence to evaluate the integrity of the anal sphincter muscles.
 

Minimally Invasive Procedures and Surgical Options for PFD

Functional abnormalities such as dyssynergia often coexist with structural abnormalities. Because structural abnormalities are commonly found in asymptomatic patients, noninvasive functional therapy, such as pelvic floor physical therapy and anorectal biofeedback, are preferred prior to surgical repair of a structural finding. For patients with fecal incontinence, sacral nerve stimulation (SNS) has emerged as a preferred therapy due to demonstrated efficacy in symptom improvement.¹² Sphincteroplasty is reserved for those with acute sphincter injury or failure of SNS.

University of Texas Medical Branch

In patients with findings of intussusception, prolapse, or rectocele that have not responded to conservative therapy, referral for surgical repair may be considered. While the specific surgical approach will depend on many factors, the goal is typically excision and/or suspension of rectal tissue and reinforcement of the rectovaginal septum.

Pelvic floor disorders and related gastrointestinal complaints are very common, and likely to increase with increasing longevity and an aging population. It is critical that we are equipped with the available knowledge and tools to provide these patients with optimal care.

Dr. Khan, Dr. Menon, Dr. Allen, and Dr. Corning are based at the University of Texas Medical Branch in Galveston, Texas. They report no conflicts of interest.

References

1. Grimes WR and Stratton M. Pelvic floor dysfunction. 2023 Jun 26. In: StatPearls [Internet]. Treasure Island (Fla.): StatPearls Publishing; 2024 Jan. PMID: 32644672.

2. Nygaard I et al. Prevalence of symptomatic pelvic floor disorders in US women. JAMA. 2008 Sep 17. doi: 10.1001/jama.300.11.1311.

3. Lawrence JM et al. Pelvic floor disorders, diabetes, and obesity in women: Findings from the Kaiser Permanente Continence Associated Risk Epidemiology Study. Diabetes Care. 2007 Oct. doi: 10.2337/dc07-0262.

4. Barber MD et al. Short forms of two condition-specific quality-of-life questionnaires for women with pelvic floor disorders (PFDI-20 and PFIQ-7). Am J Obstet Gynecol. 2005 Jul. doi: 10.1016/j.ajog.2004.12.025.

5. Persu C et al. Pelvic Organ Prolapse Quantification System (POP-Q) — A new era in pelvic prolapse staging. J Med Life. 2011 Jan-Mar. PMID: 21505577.

6. Wald A et al. ACG Clinical Guidelines: Management of benign anorectal disorders. Am J Gastroenterol. 2021 Oct 1. doi: 10.14309/ajg.0000000000001507.

7. Bharucha AE and Lacy BE. Mechanisms, evaluation, and management of chronic constipation. Gastroenterology. 2020 Apr. doi: 10.1053/j.gastro.2019.12.034.

8. Menees S and Chey WD. Fecal incontinence: Pathogenesis, diagnosis, and updated treatment strategies. Gastroenterol Clin North Am. 2022 Mar. doi: 10.1016/j.gtc.2021.10.005.

9. Wallace SL et al. Pelvic floor physical therapy in the treatment of pelvic floor dysfunction in women. Curr Opin Obstet Gynecol. 2019 Dec. doi: 10.1097/GCO.0000000000000584.

10. Carrington EV et al. The international anorectal physiology working group (IAPWG) recommendations: Standardized testing protocol and the London classification for disorders of anorectal function. Neurogastroenterol Motil. 2020 Jan. doi: 10.1111/nmo.13679.

11. El Sayed RF et al. Magnetic resonance imaging of pelvic floor dysfunction — Joint recommendations of the ESUR and ESGAR Pelvic Floor Working Group. Eur Radiol. 2017 May. doi: 10.1007/s00330-016-4471-7.

12. Thaha MA et al. Sacral nerve stimulation for faecal incontinence and constipation in adults. Cochrane Database Syst Rev. 2015 Aug 24. doi: 10.1002/14651858.CD004464.pub3.

13. Chiarioni G et al. Biofeedback benefits only patients with outlet dysfunction, not patients with isolated slow transit constipation. Gastroenterology. 2005 Jul. doi: 10.1053/j.gastro.2005.05.015.

14. Grossi U et al. Diagnostic accuracy study of anorectal manometry for diagnosis of dyssynergic defecation. Gut. 2016 Mar. doi: 10.1136/gutjnl-2014-308835.

15. Albuquerque A. Endoanal ultrasonography in fecal incontinence: Current and future perspectives. World J Gastrointest Endosc. 2015 Jun 10. doi: 10.4253/wjge.v7.i6.575.

Pelvic floor dysfunction (PFD) represents a spectrum of symptoms involving sensory and emptying abnormalities of the bowel and bladder and pelvic organ prolapse. The pelvic floor refers to a group of muscles that spans the pelvic outlet, providing support to the pelvic organs and coordinating constrictor mechanisms to control urination and defecation. Symptoms reported by patients experiencing PFD include involuntary loss of stool or urine, incomplete emptying of the bowel and bladder, a sensation of fullness, bulging in the vagina, and sexual dysfunction.¹

As such, symptoms related to PFD are very common concerns raised by patients to their gastroenterologists. Data from the National Health and Nutrition Examination Survey show that 23.7% of women over the age of 20 had at least one symptom of PFD.² Unfortunately, patients experiencing pelvic floor dysfunction often are hesitant to seek care because of embarrassment or perception that limited treatment options exist for their symptoms.
 

Pelvic Floor Anatomy

Regions of the pelvis are often referred to by anatomic compartment: anterior (bladder and urethra), middle (vagina and uterus or prostate), and posterior (colon, rectum, and anal canal). Supporting these compartments is the levator ani, a muscle group that is used synonymously with the term “pelvic diaphragm.”

University of Texas Medical Branch

Continence of stool is provided by the anal sphincter muscles and the puborectalis muscle, which wraps around the posterior aspect of the anorectal canal. Damage to the musculature or sensory perception to this area may result in fecal incontinence. Defecation is a coordinated process during which the abdominal and rectal muscles contract, while the anal sphincter muscles and puborectalis simultaneously relax. A disturbance in neuromuscular coordination (dyssynergic defecation) or structural pathology such as pelvic organ prolapse may lead to obstructed defecation.

PFD is thought to be a result of one or more insults to the pelvic floor such as chronic straining, childbirth, iatrogenic injury, or systemic disease such as diabetes.³
 

Evaluation of PFD Symptoms

Patients presenting with suspected PFD necessitate a comprehensive interdisciplinary assessment. In addition to obtaining a medical, surgical, and obstetric history, details about symptoms and lifestyle should include toileting habits, diet, and physical activity. The Pelvic Floor Distress Inventory (PFDI-20) is a commonly used tool that can be employed in the clinical setting.⁴

A pelvic exam can reveal pelvic organ prolapse and other mucosal pathology. The Pelvic Organ Prolapse Quantification System (POP-Q) is a widely used classification system for describing pelvic organ prolapse.⁵ Protrusion of the rectal wall into the vagina is referred to as a rectocele, while prolapse of small bowel into the upper posterior wall of the vagina is called an enterocele. While the finding of a rectocele on exam is common in parous women and may not cause any symptoms, a larger rectocele may cause a sensation of incomplete evacuation of stool.

University of Texas Medical Branch

Initial Management

A stepwise approach to the management of PFD can allow many patients to be effectively treated without the need for surgical intervention. For patients reporting liquid stool consistency, the evaluation should pivot toward the workup and management of diarrhea, which can easily overwhelm continence mechanisms and cause fecal incontinence. Fiber supplementation to normalize stool consistency is considered first-line therapy for patients presenting with both fecal incontinence and obstructed defecation. Other tools for fecal incontinence include avoiding foods that trigger diarrhea and use of loperamide.⁶ For patients with obstructed defecation, a trial of laxatives can be followed by a prescription agent if needed, such as a secretagogue or prokinetic.⁷

Vaginal splinting is a technique that can be used in patients with rectocele, whereby a finger is inserted into the vagina and pressure is applied on the posterior vaginal wall toward the rectum. Reducing the rectocele can facilitate emptying stool from the rectum and prevent leakage of retained stool.⁸ Similarly, use of rectal irrigation enemas can also help clear retained stool.

Pelvic floor physical therapists examine the strength, coordination, and tone of the pelvic floor muscles. When hypertonic musculature is present, manual interventions may be performed including trigger point release, myofascial release, and dry needling.⁹ When hypotonic musculature or dyssynergia is present, strengthening and neuromuscular re-education are recommended. Biofeedback can be administered via surface electromyography and/or balloon training to improve rectal sensitivity. Proper defecation techniques, including positioning, breathing, and behavioral modifications, improve clinical outcomes.

University of Texas Medical Branch

Diagnostic Testing

For patients who do not improve with conservative management, further testing is recommended to characterize the underlying pathology. Typically, anorectal manometry (ARM) is performed in conjunction with the balloon expulsion test and imaging. Each modality has its strengths and limitations (see Table 1).

ARM allows for the assessment of rectal sensation and recto-anal pressures and coordination.¹⁰

Dynamic imaging, by barium defecography under fluoroscopy or MRI, captures anatomy at rest and with simulated defecation to identify pelvic organ prolapse, compartmental defects, and organ mobility.¹¹ Endoanal ultrasonography is considered in patients experiencing fecal incontinence to evaluate the integrity of the anal sphincter muscles.
 

Minimally Invasive Procedures and Surgical Options for PFD

Functional abnormalities such as dyssynergia often coexist with structural abnormalities. Because structural abnormalities are commonly found in asymptomatic patients, noninvasive functional therapy, such as pelvic floor physical therapy and anorectal biofeedback, are preferred prior to surgical repair of a structural finding. For patients with fecal incontinence, sacral nerve stimulation (SNS) has emerged as a preferred therapy due to demonstrated efficacy in symptom improvement.¹² Sphincteroplasty is reserved for those with acute sphincter injury or failure of SNS.

University of Texas Medical Branch

In patients with findings of intussusception, prolapse, or rectocele that have not responded to conservative therapy, referral for surgical repair may be considered. While the specific surgical approach will depend on many factors, the goal is typically excision and/or suspension of rectal tissue and reinforcement of the rectovaginal septum.

Pelvic floor disorders and related gastrointestinal complaints are very common, and likely to increase with increasing longevity and an aging population. It is critical that we are equipped with the available knowledge and tools to provide these patients with optimal care.

Dr. Khan, Dr. Menon, Dr. Allen, and Dr. Corning are based at the University of Texas Medical Branch in Galveston, Texas. They report no conflicts of interest.

References

1. Grimes WR and Stratton M. Pelvic floor dysfunction. 2023 Jun 26. In: StatPearls [Internet]. Treasure Island (Fla.): StatPearls Publishing; 2024 Jan. PMID: 32644672.

2. Nygaard I et al. Prevalence of symptomatic pelvic floor disorders in US women. JAMA. 2008 Sep 17. doi: 10.1001/jama.300.11.1311.

3. Lawrence JM et al. Pelvic floor disorders, diabetes, and obesity in women: Findings from the Kaiser Permanente Continence Associated Risk Epidemiology Study. Diabetes Care. 2007 Oct. doi: 10.2337/dc07-0262.

4. Barber MD et al. Short forms of two condition-specific quality-of-life questionnaires for women with pelvic floor disorders (PFDI-20 and PFIQ-7). Am J Obstet Gynecol. 2005 Jul. doi: 10.1016/j.ajog.2004.12.025.

5. Persu C et al. Pelvic Organ Prolapse Quantification System (POP-Q) — A new era in pelvic prolapse staging. J Med Life. 2011 Jan-Mar. PMID: 21505577.

6. Wald A et al. ACG Clinical Guidelines: Management of benign anorectal disorders. Am J Gastroenterol. 2021 Oct 1. doi: 10.14309/ajg.0000000000001507.

7. Bharucha AE and Lacy BE. Mechanisms, evaluation, and management of chronic constipation. Gastroenterology. 2020 Apr. doi: 10.1053/j.gastro.2019.12.034.

8. Menees S and Chey WD. Fecal incontinence: Pathogenesis, diagnosis, and updated treatment strategies. Gastroenterol Clin North Am. 2022 Mar. doi: 10.1016/j.gtc.2021.10.005.

9. Wallace SL et al. Pelvic floor physical therapy in the treatment of pelvic floor dysfunction in women. Curr Opin Obstet Gynecol. 2019 Dec. doi: 10.1097/GCO.0000000000000584.

10. Carrington EV et al. The international anorectal physiology working group (IAPWG) recommendations: Standardized testing protocol and the London classification for disorders of anorectal function. Neurogastroenterol Motil. 2020 Jan. doi: 10.1111/nmo.13679.

11. El Sayed RF et al. Magnetic resonance imaging of pelvic floor dysfunction — Joint recommendations of the ESUR and ESGAR Pelvic Floor Working Group. Eur Radiol. 2017 May. doi: 10.1007/s00330-016-4471-7.

12. Thaha MA et al. Sacral nerve stimulation for faecal incontinence and constipation in adults. Cochrane Database Syst Rev. 2015 Aug 24. doi: 10.1002/14651858.CD004464.pub3.

13. Chiarioni G et al. Biofeedback benefits only patients with outlet dysfunction, not patients with isolated slow transit constipation. Gastroenterology. 2005 Jul. doi: 10.1053/j.gastro.2005.05.015.

14. Grossi U et al. Diagnostic accuracy study of anorectal manometry for diagnosis of dyssynergic defecation. Gut. 2016 Mar. doi: 10.1136/gutjnl-2014-308835.

15. Albuquerque A. Endoanal ultrasonography in fecal incontinence: Current and future perspectives. World J Gastrointest Endosc. 2015 Jun 10. doi: 10.4253/wjge.v7.i6.575.

Pelvic floor dysfunction (PFD) represents a spectrum of symptoms involving sensory and emptying abnormalities of the bowel and bladder and pelvic organ prolapse. The pelvic floor refers to a group of muscles that spans the pelvic outlet, providing support to the pelvic organs and coordinating constrictor mechanisms to control urination and defecation. Symptoms reported by patients experiencing PFD include involuntary loss of stool or urine, incomplete emptying of the bowel and bladder, a sensation of fullness, bulging in the vagina, and sexual dysfunction.¹

As such, symptoms related to PFD are very common concerns raised by patients to their gastroenterologists. Data from the National Health and Nutrition Examination Survey show that 23.7% of women over the age of 20 had at least one symptom of PFD.² Unfortunately, patients experiencing pelvic floor dysfunction often are hesitant to seek care because of embarrassment or perception that limited treatment options exist for their symptoms.
 

Pelvic Floor Anatomy

Regions of the pelvis are often referred to by anatomic compartment: anterior (bladder and urethra), middle (vagina and uterus or prostate), and posterior (colon, rectum, and anal canal). Supporting these compartments is the levator ani, a muscle group that is used synonymously with the term “pelvic diaphragm.”

University of Texas Medical Branch

Continence of stool is provided by the anal sphincter muscles and the puborectalis muscle, which wraps around the posterior aspect of the anorectal canal. Damage to the musculature or sensory perception to this area may result in fecal incontinence. Defecation is a coordinated process during which the abdominal and rectal muscles contract, while the anal sphincter muscles and puborectalis simultaneously relax. A disturbance in neuromuscular coordination (dyssynergic defecation) or structural pathology such as pelvic organ prolapse may lead to obstructed defecation.

PFD is thought to be a result of one or more insults to the pelvic floor such as chronic straining, childbirth, iatrogenic injury, or systemic disease such as diabetes.³
 

Evaluation of PFD Symptoms

Patients presenting with suspected PFD necessitate a comprehensive interdisciplinary assessment. In addition to obtaining a medical, surgical, and obstetric history, details about symptoms and lifestyle should include toileting habits, diet, and physical activity. The Pelvic Floor Distress Inventory (PFDI-20) is a commonly used tool that can be employed in the clinical setting.⁴

A pelvic exam can reveal pelvic organ prolapse and other mucosal pathology. The Pelvic Organ Prolapse Quantification System (POP-Q) is a widely used classification system for describing pelvic organ prolapse.⁵ Protrusion of the rectal wall into the vagina is referred to as a rectocele, while prolapse of small bowel into the upper posterior wall of the vagina is called an enterocele. While the finding of a rectocele on exam is common in parous women and may not cause any symptoms, a larger rectocele may cause a sensation of incomplete evacuation of stool.

University of Texas Medical Branch

Initial Management

A stepwise approach to the management of PFD can allow many patients to be effectively treated without the need for surgical intervention. For patients reporting liquid stool consistency, the evaluation should pivot toward the workup and management of diarrhea, which can easily overwhelm continence mechanisms and cause fecal incontinence. Fiber supplementation to normalize stool consistency is considered first-line therapy for patients presenting with both fecal incontinence and obstructed defecation. Other tools for fecal incontinence include avoiding foods that trigger diarrhea and use of loperamide.⁶ For patients with obstructed defecation, a trial of laxatives can be followed by a prescription agent if needed, such as a secretagogue or prokinetic.⁷

Vaginal splinting is a technique that can be used in patients with rectocele, whereby a finger is inserted into the vagina and pressure is applied on the posterior vaginal wall toward the rectum. Reducing the rectocele can facilitate emptying stool from the rectum and prevent leakage of retained stool.⁸ Similarly, use of rectal irrigation enemas can also help clear retained stool.

Pelvic floor physical therapists examine the strength, coordination, and tone of the pelvic floor muscles. When hypertonic musculature is present, manual interventions may be performed including trigger point release, myofascial release, and dry needling.⁹ When hypotonic musculature or dyssynergia is present, strengthening and neuromuscular re-education are recommended. Biofeedback can be administered via surface electromyography and/or balloon training to improve rectal sensitivity. Proper defecation techniques, including positioning, breathing, and behavioral modifications, improve clinical outcomes.

University of Texas Medical Branch

Diagnostic Testing

For patients who do not improve with conservative management, further testing is recommended to characterize the underlying pathology. Typically, anorectal manometry (ARM) is performed in conjunction with the balloon expulsion test and imaging. Each modality has its strengths and limitations (see Table 1).

ARM allows for the assessment of rectal sensation and recto-anal pressures and coordination.¹⁰

Dynamic imaging, by barium defecography under fluoroscopy or MRI, captures anatomy at rest and with simulated defecation to identify pelvic organ prolapse, compartmental defects, and organ mobility.¹¹ Endoanal ultrasonography is considered in patients experiencing fecal incontinence to evaluate the integrity of the anal sphincter muscles.
 

Minimally Invasive Procedures and Surgical Options for PFD

Functional abnormalities such as dyssynergia often coexist with structural abnormalities. Because structural abnormalities are commonly found in asymptomatic patients, noninvasive functional therapy, such as pelvic floor physical therapy and anorectal biofeedback, are preferred prior to surgical repair of a structural finding. For patients with fecal incontinence, sacral nerve stimulation (SNS) has emerged as a preferred therapy due to demonstrated efficacy in symptom improvement.¹² Sphincteroplasty is reserved for those with acute sphincter injury or failure of SNS.

University of Texas Medical Branch

In patients with findings of intussusception, prolapse, or rectocele that have not responded to conservative therapy, referral for surgical repair may be considered. While the specific surgical approach will depend on many factors, the goal is typically excision and/or suspension of rectal tissue and reinforcement of the rectovaginal septum.

Pelvic floor disorders and related gastrointestinal complaints are very common, and likely to increase with increasing longevity and an aging population. It is critical that we are equipped with the available knowledge and tools to provide these patients with optimal care.

Dr. Khan, Dr. Menon, Dr. Allen, and Dr. Corning are based at the University of Texas Medical Branch in Galveston, Texas. They report no conflicts of interest.

References

1. Grimes WR and Stratton M. Pelvic floor dysfunction. 2023 Jun 26. In: StatPearls [Internet]. Treasure Island (Fla.): StatPearls Publishing; 2024 Jan. PMID: 32644672.

2. Nygaard I et al. Prevalence of symptomatic pelvic floor disorders in US women. JAMA. 2008 Sep 17. doi: 10.1001/jama.300.11.1311.

3. Lawrence JM et al. Pelvic floor disorders, diabetes, and obesity in women: Findings from the Kaiser Permanente Continence Associated Risk Epidemiology Study. Diabetes Care. 2007 Oct. doi: 10.2337/dc07-0262.

4. Barber MD et al. Short forms of two condition-specific quality-of-life questionnaires for women with pelvic floor disorders (PFDI-20 and PFIQ-7). Am J Obstet Gynecol. 2005 Jul. doi: 10.1016/j.ajog.2004.12.025.

5. Persu C et al. Pelvic Organ Prolapse Quantification System (POP-Q) — A new era in pelvic prolapse staging. J Med Life. 2011 Jan-Mar. PMID: 21505577.

6. Wald A et al. ACG Clinical Guidelines: Management of benign anorectal disorders. Am J Gastroenterol. 2021 Oct 1. doi: 10.14309/ajg.0000000000001507.

7. Bharucha AE and Lacy BE. Mechanisms, evaluation, and management of chronic constipation. Gastroenterology. 2020 Apr. doi: 10.1053/j.gastro.2019.12.034.

8. Menees S and Chey WD. Fecal incontinence: Pathogenesis, diagnosis, and updated treatment strategies. Gastroenterol Clin North Am. 2022 Mar. doi: 10.1016/j.gtc.2021.10.005.

9. Wallace SL et al. Pelvic floor physical therapy in the treatment of pelvic floor dysfunction in women. Curr Opin Obstet Gynecol. 2019 Dec. doi: 10.1097/GCO.0000000000000584.

10. Carrington EV et al. The international anorectal physiology working group (IAPWG) recommendations: Standardized testing protocol and the London classification for disorders of anorectal function. Neurogastroenterol Motil. 2020 Jan. doi: 10.1111/nmo.13679.

11. El Sayed RF et al. Magnetic resonance imaging of pelvic floor dysfunction — Joint recommendations of the ESUR and ESGAR Pelvic Floor Working Group. Eur Radiol. 2017 May. doi: 10.1007/s00330-016-4471-7.

12. Thaha MA et al. Sacral nerve stimulation for faecal incontinence and constipation in adults. Cochrane Database Syst Rev. 2015 Aug 24. doi: 10.1002/14651858.CD004464.pub3.

13. Chiarioni G et al. Biofeedback benefits only patients with outlet dysfunction, not patients with isolated slow transit constipation. Gastroenterology. 2005 Jul. doi: 10.1053/j.gastro.2005.05.015.

14. Grossi U et al. Diagnostic accuracy study of anorectal manometry for diagnosis of dyssynergic defecation. Gut. 2016 Mar. doi: 10.1136/gutjnl-2014-308835.

15. Albuquerque A. Endoanal ultrasonography in fecal incontinence: Current and future perspectives. World J Gastrointest Endosc. 2015 Jun 10. doi: 10.4253/wjge.v7.i6.575.

Dear Friends,

The prevailing theme of this issue is “Success.” I have learned that “success” is personal and personalized. What “success” looked like 10, or even 5, years ago to me is very different from how I perceive it now; and I know it may be different 5 years from now. My definition of success should not look like another’s — that was the best advice I have gotten over the years and it has kept me constantly redefining what is important to me and placing value on where I want to allocate my time and efforts, at work and at home.

This issue of The New Gastroenterologist highlights topics from successful GIs within their own realms of expertise, offering insights on advancing in academic medicine, navigating financial wellness with a financial adviser, and becoming a future leader in GI.

Yours truly,

Judy A. Trieu, MD, MPH

Editor-in-Chief
Interventional Endoscopy, Division of Gastroenterology
Washington University in St. Louis

Dear Friends,

The prevailing theme of this issue is “Success.” I have learned that “success” is personal and personalized. What “success” looked like 10, or even 5, years ago to me is very different from how I perceive it now; and I know it may be different 5 years from now. My definition of success should not look like another’s — that was the best advice I have gotten over the years and it has kept me constantly redefining what is important to me and placing value on where I want to allocate my time and efforts, at work and at home.

This issue of The New Gastroenterologist highlights topics from successful GIs within their own realms of expertise, offering insights on advancing in academic medicine, navigating financial wellness with a financial adviser, and becoming a future leader in GI.

Yours truly,

Judy A. Trieu, MD, MPH

Editor-in-Chief
Interventional Endoscopy, Division of Gastroenterology
Washington University in St. Louis

Dear Friends,

The prevailing theme of this issue is “Success.” I have learned that “success” is personal and personalized. What “success” looked like 10, or even 5, years ago to me is very different from how I perceive it now; and I know it may be different 5 years from now. My definition of success should not look like another’s — that was the best advice I have gotten over the years and it has kept me constantly redefining what is important to me and placing value on where I want to allocate my time and efforts, at work and at home.

This issue of The New Gastroenterologist highlights topics from successful GIs within their own realms of expertise, offering insights on advancing in academic medicine, navigating financial wellness with a financial adviser, and becoming a future leader in GI.

Yours truly,

Judy A. Trieu, MD, MPH

Editor-in-Chief
Interventional Endoscopy, Division of Gastroenterology
Washington University in St. Louis

In gastroenterology, a good bedside manner is a vital attribute. Visiting with an anxious patient before a colonoscopy, Adjoa Anyane-Yeboa, MD, MPH, knew what to say to calm him down.

“I could tell he was really nervous about the procedure, even though he wasn’t letting on,” said Dr. Anyane-Yeboa, a gastroenterologist with Massachusetts General Hospital in Boston. She put him at ease by cracking jokes and making him smile during the consent process. After it was over, he thanked her for making him feel more comfortable.

“I will have it done again, and I’ll come back to you next time,” said the patient.

Courtesy Commonwealth Fund

GI doctors perform colonoscopies all day, every day, “so we sometimes forget how nervous people are. But it’s nice to be able to connect with people and put them at ease,” she said.

Interacting with patients gives her joy. Addressing health disparities is her long-term goal. Dr. Anyane-Yeboa’s research has focused on the barriers to colorectal cancer screening in the Black population, as well as disparities in inflammatory bowel disease (IBD).

“I think there’s a lot that still needs to be done around colorectal cancer screening,” she said.

In an interview, she talks more in depth about her research and her ongoing work to increase public knowledge and awareness about colorectal cancer screening.
 

Q: Why did you choose GI?

Dr. Anyane-Yeboa: When I got to residency, GI was the rotation that was the most fun. I was the most excited to read about it, the most excited to go to work the next day.

I remember people saying, “You should look at the people who are in the field and look at their personalities, and then think about which personalities match you best.” In residency I considered hematology, cardiology, and GI. The cardiologists were so serious, so intense, talking about research methods all the time. Whereas, the GI folks were joking, laughing, making fart jokes. I felt like these were my people, lighthearted and easy-going. And I genuinely enjoyed going to work every day and learning about the disorders of the GI tract. I still do to this day.
 

Q: Let’s discuss your research with IBD in Black populations and colorectal cancer screening.

Dr. Anyane-Yeboa: My two main areas of work are in IBD and minority populations, predominantly Black populations, and in colorectal cancer screening in minority populations, and again, mostly in historically marginalized populations.

With colon cancer, we know that there are disparities with incidence in mortality. Black individuals have had the second highest incidence in mortality from colorectal cancer. For me, being a Black female physician and seeing people who look like me, time and time again, being diagnosed with colorectal cancer and dying is really what drives me, because in GI, colon cancer screening is our bread and butter.

Some of the work that I’m doing now around colorectal cancer is in predominantly Black community health centers, working on increasing colorectal cancer screening rates in this population, and figuring out what the barriers are to screening and how we can address them, and what are some strategies that will work in a health center setting to get people screened.
 

Q: One study of yours surveyed unscreened Black individuals age ≥ 45 and found age-specific barriers to CRC screening in this population, as well as a lack of targeted messaging to incentivize screening.

Dr. Anyane-Yeboa: That mixed method study was done in partnership with the National Colorectal Cancer Roundtable and American Cancer Society.

In that study, we found that the most common barrier to screening was self-procrastination or delay of screening, meaning, “I’m going to get screened, just not right now.” It’s not a priority. What was unique about this is we looked at it from age breakdown, so 45-49, 50-54, 55-plus. With the younger 45-49 group, we don’t know as much about how to get them screened. We also saw that healthcare providers weren’t starting conversations about screening with these younger newly eligible patients.

We also described effective messages to get people screened in that paper as well.
 

Q: What changes would you like to see going forward with screening? What still needs to happen?

Dr. Anyane-Yeboa: In some of the other work that I’ve done, particularly with the health centers and younger populations interviewed in focus groups, I’m seeing that those who are younger don’t really know much about colorectal cancer screening. Those who do know about it have seen commercials about popular stool-based testing brands, and that’s how they’ve learned about screening.

What I would like to see is ways to increase the knowledge and awareness about colorectal cancer screening and colorectal cancer on a broad scale, on a more national, public-facing scale. Because I’m realizing that if they’re healthy young folks who aren’t going to the physician, who don’t have a primary care provider, then they might not even really hear about colorectal cancer screening. We need ways to educate the general public so individuals can advocate for themselves around screening.

I also want to see more providers discussing screening with all patients, starting from those 45-49, and younger if they have a family history. Providers should screen every single patient that they see. We know that every single person should be screened at 45 and older, and not all providers, surprisingly, are discussing it with their patients.
 

Q: When you’re not being a GI, how do you spend your free weekend afternoons?

Dr. Anyane-Yeboa: Saturday morning is my favorite time of the week. I’m either catching up on my TV shows, or I might be on a walk with my dog, particularly in the afternoon. I live near an arboretum, so I usually walk through there on the weekend afternoons. I also might be trying out a new restaurant with my friends. I love traveling, so I might also be sightseeing in another country.

Lightning Round

Texting or talking?

Texting

Favorite junk food?

Cookies

Cat or dog person?

Both; love cats, have a dog

If you weren’t a gastroenterologist, what would you be?

Fashion boutique owner

Best place you’ve traveled to?

Morocco

How many cups of coffee do you drink per day?

Two

Favorite ice cream?

Don’t eat ice cream, only cookies

Favorite sport?

Tennis

Optimist or pessimist?

Optimist (glass half full)

In gastroenterology, a good bedside manner is a vital attribute. Visiting with an anxious patient before a colonoscopy, Adjoa Anyane-Yeboa, MD, MPH, knew what to say to calm him down.

“I could tell he was really nervous about the procedure, even though he wasn’t letting on,” said Dr. Anyane-Yeboa, a gastroenterologist with Massachusetts General Hospital in Boston. She put him at ease by cracking jokes and making him smile during the consent process. After it was over, he thanked her for making him feel more comfortable.

“I will have it done again, and I’ll come back to you next time,” said the patient.

Courtesy Commonwealth Fund

GI doctors perform colonoscopies all day, every day, “so we sometimes forget how nervous people are. But it’s nice to be able to connect with people and put them at ease,” she said.

Interacting with patients gives her joy. Addressing health disparities is her long-term goal. Dr. Anyane-Yeboa’s research has focused on the barriers to colorectal cancer screening in the Black population, as well as disparities in inflammatory bowel disease (IBD).

“I think there’s a lot that still needs to be done around colorectal cancer screening,” she said.

In an interview, she talks more in depth about her research and her ongoing work to increase public knowledge and awareness about colorectal cancer screening.
 

Q: Why did you choose GI?

Dr. Anyane-Yeboa: When I got to residency, GI was the rotation that was the most fun. I was the most excited to read about it, the most excited to go to work the next day.

I remember people saying, “You should look at the people who are in the field and look at their personalities, and then think about which personalities match you best.” In residency I considered hematology, cardiology, and GI. The cardiologists were so serious, so intense, talking about research methods all the time. Whereas, the GI folks were joking, laughing, making fart jokes. I felt like these were my people, lighthearted and easy-going. And I genuinely enjoyed going to work every day and learning about the disorders of the GI tract. I still do to this day.
 

Q: Let’s discuss your research with IBD in Black populations and colorectal cancer screening.

Dr. Anyane-Yeboa: My two main areas of work are in IBD and minority populations, predominantly Black populations, and in colorectal cancer screening in minority populations, and again, mostly in historically marginalized populations.

With colon cancer, we know that there are disparities with incidence in mortality. Black individuals have had the second highest incidence in mortality from colorectal cancer. For me, being a Black female physician and seeing people who look like me, time and time again, being diagnosed with colorectal cancer and dying is really what drives me, because in GI, colon cancer screening is our bread and butter.

Some of the work that I’m doing now around colorectal cancer is in predominantly Black community health centers, working on increasing colorectal cancer screening rates in this population, and figuring out what the barriers are to screening and how we can address them, and what are some strategies that will work in a health center setting to get people screened.
 

Q: One study of yours surveyed unscreened Black individuals age ≥ 45 and found age-specific barriers to CRC screening in this population, as well as a lack of targeted messaging to incentivize screening.

Dr. Anyane-Yeboa: That mixed method study was done in partnership with the National Colorectal Cancer Roundtable and American Cancer Society.

In that study, we found that the most common barrier to screening was self-procrastination or delay of screening, meaning, “I’m going to get screened, just not right now.” It’s not a priority. What was unique about this is we looked at it from age breakdown, so 45-49, 50-54, 55-plus. With the younger 45-49 group, we don’t know as much about how to get them screened. We also saw that healthcare providers weren’t starting conversations about screening with these younger newly eligible patients.

We also described effective messages to get people screened in that paper as well.
 

Q: What changes would you like to see going forward with screening? What still needs to happen?

Dr. Anyane-Yeboa: In some of the other work that I’ve done, particularly with the health centers and younger populations interviewed in focus groups, I’m seeing that those who are younger don’t really know much about colorectal cancer screening. Those who do know about it have seen commercials about popular stool-based testing brands, and that’s how they’ve learned about screening.

What I would like to see is ways to increase the knowledge and awareness about colorectal cancer screening and colorectal cancer on a broad scale, on a more national, public-facing scale. Because I’m realizing that if they’re healthy young folks who aren’t going to the physician, who don’t have a primary care provider, then they might not even really hear about colorectal cancer screening. We need ways to educate the general public so individuals can advocate for themselves around screening.

I also want to see more providers discussing screening with all patients, starting from those 45-49, and younger if they have a family history. Providers should screen every single patient that they see. We know that every single person should be screened at 45 and older, and not all providers, surprisingly, are discussing it with their patients.
 

Q: When you’re not being a GI, how do you spend your free weekend afternoons?

Dr. Anyane-Yeboa: Saturday morning is my favorite time of the week. I’m either catching up on my TV shows, or I might be on a walk with my dog, particularly in the afternoon. I live near an arboretum, so I usually walk through there on the weekend afternoons. I also might be trying out a new restaurant with my friends. I love traveling, so I might also be sightseeing in another country.

Lightning Round

Texting or talking?

Texting

Favorite junk food?

Cookies

Cat or dog person?

Both; love cats, have a dog

If you weren’t a gastroenterologist, what would you be?

Fashion boutique owner

Best place you’ve traveled to?

Morocco

How many cups of coffee do you drink per day?

Two

Favorite ice cream?

Don’t eat ice cream, only cookies

Favorite sport?

Tennis

Optimist or pessimist?

Optimist (glass half full)

In gastroenterology, a good bedside manner is a vital attribute. Visiting with an anxious patient before a colonoscopy, Adjoa Anyane-Yeboa, MD, MPH, knew what to say to calm him down.

“I could tell he was really nervous about the procedure, even though he wasn’t letting on,” said Dr. Anyane-Yeboa, a gastroenterologist with Massachusetts General Hospital in Boston. She put him at ease by cracking jokes and making him smile during the consent process. After it was over, he thanked her for making him feel more comfortable.

“I will have it done again, and I’ll come back to you next time,” said the patient.

Courtesy Commonwealth Fund

GI doctors perform colonoscopies all day, every day, “so we sometimes forget how nervous people are. But it’s nice to be able to connect with people and put them at ease,” she said.

Interacting with patients gives her joy. Addressing health disparities is her long-term goal. Dr. Anyane-Yeboa’s research has focused on the barriers to colorectal cancer screening in the Black population, as well as disparities in inflammatory bowel disease (IBD).

“I think there’s a lot that still needs to be done around colorectal cancer screening,” she said.

In an interview, she talks more in depth about her research and her ongoing work to increase public knowledge and awareness about colorectal cancer screening.
 

Q: Why did you choose GI?

Dr. Anyane-Yeboa: When I got to residency, GI was the rotation that was the most fun. I was the most excited to read about it, the most excited to go to work the next day.

I remember people saying, “You should look at the people who are in the field and look at their personalities, and then think about which personalities match you best.” In residency I considered hematology, cardiology, and GI. The cardiologists were so serious, so intense, talking about research methods all the time. Whereas, the GI folks were joking, laughing, making fart jokes. I felt like these were my people, lighthearted and easy-going. And I genuinely enjoyed going to work every day and learning about the disorders of the GI tract. I still do to this day.
 

Q: Let’s discuss your research with IBD in Black populations and colorectal cancer screening.

Dr. Anyane-Yeboa: My two main areas of work are in IBD and minority populations, predominantly Black populations, and in colorectal cancer screening in minority populations, and again, mostly in historically marginalized populations.

With colon cancer, we know that there are disparities with incidence in mortality. Black individuals have had the second highest incidence in mortality from colorectal cancer. For me, being a Black female physician and seeing people who look like me, time and time again, being diagnosed with colorectal cancer and dying is really what drives me, because in GI, colon cancer screening is our bread and butter.

Some of the work that I’m doing now around colorectal cancer is in predominantly Black community health centers, working on increasing colorectal cancer screening rates in this population, and figuring out what the barriers are to screening and how we can address them, and what are some strategies that will work in a health center setting to get people screened.
 

Q: One study of yours surveyed unscreened Black individuals age ≥ 45 and found age-specific barriers to CRC screening in this population, as well as a lack of targeted messaging to incentivize screening.

Dr. Anyane-Yeboa: That mixed method study was done in partnership with the National Colorectal Cancer Roundtable and American Cancer Society.

In that study, we found that the most common barrier to screening was self-procrastination or delay of screening, meaning, “I’m going to get screened, just not right now.” It’s not a priority. What was unique about this is we looked at it from age breakdown, so 45-49, 50-54, 55-plus. With the younger 45-49 group, we don’t know as much about how to get them screened. We also saw that healthcare providers weren’t starting conversations about screening with these younger newly eligible patients.

We also described effective messages to get people screened in that paper as well.
 

Q: What changes would you like to see going forward with screening? What still needs to happen?

Dr. Anyane-Yeboa: In some of the other work that I’ve done, particularly with the health centers and younger populations interviewed in focus groups, I’m seeing that those who are younger don’t really know much about colorectal cancer screening. Those who do know about it have seen commercials about popular stool-based testing brands, and that’s how they’ve learned about screening.

What I would like to see is ways to increase the knowledge and awareness about colorectal cancer screening and colorectal cancer on a broad scale, on a more national, public-facing scale. Because I’m realizing that if they’re healthy young folks who aren’t going to the physician, who don’t have a primary care provider, then they might not even really hear about colorectal cancer screening. We need ways to educate the general public so individuals can advocate for themselves around screening.

I also want to see more providers discussing screening with all patients, starting from those 45-49, and younger if they have a family history. Providers should screen every single patient that they see. We know that every single person should be screened at 45 and older, and not all providers, surprisingly, are discussing it with their patients.
 

Q: When you’re not being a GI, how do you spend your free weekend afternoons?

Dr. Anyane-Yeboa: Saturday morning is my favorite time of the week. I’m either catching up on my TV shows, or I might be on a walk with my dog, particularly in the afternoon. I live near an arboretum, so I usually walk through there on the weekend afternoons. I also might be trying out a new restaurant with my friends. I love traveling, so I might also be sightseeing in another country.

Lightning Round

Texting or talking?

Texting

Favorite junk food?

Cookies

Cat or dog person?

Both; love cats, have a dog

If you weren’t a gastroenterologist, what would you be?

Fashion boutique owner

Best place you’ve traveled to?

Morocco

How many cups of coffee do you drink per day?

Two

Favorite ice cream?

Don’t eat ice cream, only cookies

Favorite sport?

Tennis

Optimist or pessimist?

Optimist (glass half full)

Release of our May issue coincides with our annual pilgrimage to Digestive Disease Week^® (DDW), this year held in our nation’s capital of Washington, D.C.

As we peruse the preliminary program in planning our meeting coverage, I am always amazed at the breadth and depth of programming offered as part of a relatively brief, 4-day meeting — this is a testament to the hard work of the AGA Council and DDW organizing committees, who have the gargantuan task of ensuring an engaging, seamless meeting each year.

University of Michigan

This year’s conference features over 400 original scientific sessions and 4,300 oral abstract and poster presentations, in addition to the always well-attended AGA Postgraduate Course. This year’s AGA Presidential Plenary, which will feature a series of thought-provoking panel discussions on the future of GI healthcare and innovations in how we treat, disseminate, and teach, also is not to be missed. Beyond DDW, I hope you will join me in taking advantage of some of D.C.’s amazing cultural offerings, including the Smithsonian museums, National Gallery, Kennedy Center for the Performing Arts, and many others.

In this month’s issue of GIHN, we highlight an important AGA expert consensus commentary published in Clinical Gastroenterology and Hepatology examining the role of blood-based tests (“liquid biopsy”) in colorectal cancer screening. This guidance, which recognizes the promise of such tests but also urges caution in their adoption, is particularly important considering recently published data from the ECLIPSE study (also covered in this issue) evaluating the performance of Guardant’s ctDNA liquid biopsy compared to a screening colonoscopy. Also relevant to CRC screening, we highlight data on the performance of the “next gen” Cologuard test compared with FIT, which was recently published in NEJM. In our May Member Spotlight, we feature gastroenterologist Adjoa Anyane-Yeboa, MD, MPH, who shares her passion for addressing barriers to CRC screening for Black patients. Finally, GIHN Associate Editor Dr. Avi Ketwaroo introduces our quarterly Perspectives column highlighting emerging applications of AI in GI endoscopy and hepatology. We hope you enjoy all the exciting content featured in this issue and look forward to seeing you in Washington, D.C. (or virtually) for DDW.
 

Megan A. Adams, MD, JD, MSc

Editor-in-Chief

Release of our May issue coincides with our annual pilgrimage to Digestive Disease Week^® (DDW), this year held in our nation’s capital of Washington, D.C.

As we peruse the preliminary program in planning our meeting coverage, I am always amazed at the breadth and depth of programming offered as part of a relatively brief, 4-day meeting — this is a testament to the hard work of the AGA Council and DDW organizing committees, who have the gargantuan task of ensuring an engaging, seamless meeting each year.

University of Michigan

This year’s conference features over 400 original scientific sessions and 4,300 oral abstract and poster presentations, in addition to the always well-attended AGA Postgraduate Course. This year’s AGA Presidential Plenary, which will feature a series of thought-provoking panel discussions on the future of GI healthcare and innovations in how we treat, disseminate, and teach, also is not to be missed. Beyond DDW, I hope you will join me in taking advantage of some of D.C.’s amazing cultural offerings, including the Smithsonian museums, National Gallery, Kennedy Center for the Performing Arts, and many others.

In this month’s issue of GIHN, we highlight an important AGA expert consensus commentary published in Clinical Gastroenterology and Hepatology examining the role of blood-based tests (“liquid biopsy”) in colorectal cancer screening. This guidance, which recognizes the promise of such tests but also urges caution in their adoption, is particularly important considering recently published data from the ECLIPSE study (also covered in this issue) evaluating the performance of Guardant’s ctDNA liquid biopsy compared to a screening colonoscopy. Also relevant to CRC screening, we highlight data on the performance of the “next gen” Cologuard test compared with FIT, which was recently published in NEJM. In our May Member Spotlight, we feature gastroenterologist Adjoa Anyane-Yeboa, MD, MPH, who shares her passion for addressing barriers to CRC screening for Black patients. Finally, GIHN Associate Editor Dr. Avi Ketwaroo introduces our quarterly Perspectives column highlighting emerging applications of AI in GI endoscopy and hepatology. We hope you enjoy all the exciting content featured in this issue and look forward to seeing you in Washington, D.C. (or virtually) for DDW.
 

Megan A. Adams, MD, JD, MSc

Editor-in-Chief

Release of our May issue coincides with our annual pilgrimage to Digestive Disease Week^® (DDW), this year held in our nation’s capital of Washington, D.C.

As we peruse the preliminary program in planning our meeting coverage, I am always amazed at the breadth and depth of programming offered as part of a relatively brief, 4-day meeting — this is a testament to the hard work of the AGA Council and DDW organizing committees, who have the gargantuan task of ensuring an engaging, seamless meeting each year.

University of Michigan

This year’s conference features over 400 original scientific sessions and 4,300 oral abstract and poster presentations, in addition to the always well-attended AGA Postgraduate Course. This year’s AGA Presidential Plenary, which will feature a series of thought-provoking panel discussions on the future of GI healthcare and innovations in how we treat, disseminate, and teach, also is not to be missed. Beyond DDW, I hope you will join me in taking advantage of some of D.C.’s amazing cultural offerings, including the Smithsonian museums, National Gallery, Kennedy Center for the Performing Arts, and many others.

In this month’s issue of GIHN, we highlight an important AGA expert consensus commentary published in Clinical Gastroenterology and Hepatology examining the role of blood-based tests (“liquid biopsy”) in colorectal cancer screening. This guidance, which recognizes the promise of such tests but also urges caution in their adoption, is particularly important considering recently published data from the ECLIPSE study (also covered in this issue) evaluating the performance of Guardant’s ctDNA liquid biopsy compared to a screening colonoscopy. Also relevant to CRC screening, we highlight data on the performance of the “next gen” Cologuard test compared with FIT, which was recently published in NEJM. In our May Member Spotlight, we feature gastroenterologist Adjoa Anyane-Yeboa, MD, MPH, who shares her passion for addressing barriers to CRC screening for Black patients. Finally, GIHN Associate Editor Dr. Avi Ketwaroo introduces our quarterly Perspectives column highlighting emerging applications of AI in GI endoscopy and hepatology. We hope you enjoy all the exciting content featured in this issue and look forward to seeing you in Washington, D.C. (or virtually) for DDW.
 

Megan A. Adams, MD, JD, MSc

Editor-in-Chief

Companies selling gut microbiome tests directly to consumers offer up a variety of claims to promote their products.

“We analyze the trillions of microbes in your gut microflora and craft a unique formula for your unique gut needs,” one says. “Get actionable dietary, supplement, and lifestyle recommendations from our microbiome experts based on your results, tailored to mom and baby’s biomarkers. ... Any family member like dads or siblings are welcome too,” says another.

The companies assert that they can improve gut health by offering individuals personalized treatments based on their gut microbiome test results. The trouble is, no provider, company, or technology can reliably do that yet.
 

Clinical Implications, Not Applications

The microbiome is the “constellation of microorganisms that call the human body home,” including many strains of bacteria, fungi, and viruses. That constellation comprises some 39 trillion cells.

Although knowledge is increasing on the oral, cutaneous, and vaginal microbiomes, the gut microbiome is arguably the most studied. However, while research is increasingly demonstrating that the gut microbiome has clinical implications, much work needs to be done before reliable applications based on that research are available.

But lack of scientific evidence and validity hasn’t stopped a growing number of companies across the globe from offering direct-to-consumer (DTC) microbiome tests, Erik C. von Rosenvinge, MD, AGAF, a professor at the University of Maryland School of Medicine and chief of gastroenterology at the VA Maryland Health Care System, Baltimore, said in an interview.

“If you go to their websites, even if it’s not stated overtly, these companies at least give the impression that they’re providing actionable, useful information,” he said. “The sites recommend microbiome testing, and often supplements, probiotics, or other products that they sell. And consumers are told they need to be tested again once they start taking any of these products to see if they’re receiving any benefit.”

Dr. von Rosenvinge and colleagues authored a recent article in Science  arguing that DTC microbiome tests “lack analytical and clinical validity” — and yet regulation of the industry has been “generally ignored.” They identified 31 companies globally, 17 of which are based in the United States, claiming to have products and/or services aimed at changing the intestinal microbiome.
 

Unreliable, Unregulated

The lack of reliability has been shown by experts who have tested the tests.

“People have taken the same stool sample, sent it to multiple companies, and gotten different results back,” Dr. von Rosenvinge said. “People also have taken a stool sample and sent it to the same company under two different names and received two different results. If the test is unreliable at its foundational level, it’s hard to use it in any clinical way.”

Test users’ methods and the companies’ procedures can affect the results, Dina Kao, MD, a professor at the University of Alberta, Edmonton, Alberta, Canada, said in an interview.

“So many biases can be introduced at every single step of the way, starting from how the stool sample was collected and how it’s preserved or not being preserved, because that can introduce a lot of noise that would change the analyses. Which primer they’re using to amplify the signals and which bioinformatic pipeline they use are also important,” said Dr. Kao, who presented at the recent Gut Microbiota for Health World Summit, organized by the American Gastroenterological Association (AGA) and the European Society of Neurogastroenterology and Motility (ESNM).

Different investigators and companies use different technologies, so it’s very difficult to compare them and to create a standard, said Mahmoud Ghannoum, PhD, a professor in the dermatology and pathology departments at Case Western Reserve University School of Medicine and director of the Center for Medical Mycology at University Hospitals in Cleveland.

The complexity of the gut microbiome makes test standardization more difficult than it is when just one organism is involved, Dr. Ghannoum, who chaired the antifungal subcommittee at the Clinical and Laboratory Standards Institute, said in an interview.

“Even though many researchers are focusing on bacteria, we also have fungi and viruses. We need standardization of methods for testing these organisms if we want to have regulations,” said Dr. Ghannoum, a cofounder of BIOHM, a microbiome company that offers nondiagnostic tests and markets a variety of probiotics, prebiotics, and immunity supplements. BIOHM is one of the 31 companies identified by Dr. von Rosenvinge and colleagues, as noted above.

Dr. Ghannoum believes that taking a systematic approach could facilitate standardization and, ultimately, regulation of the DTC microbiome testing products. He and his colleagues described such an approach by outlining the stages for designing probiotics capable of modulating the microbiome in chronic diseases, using Crohn’s disease as a model. Their strategy involved the following steps:

• Using primary microbiome data to identify, by abundance, the microorganisms underlying dysbiosis.
• Gaining insight into the interactions among the identified pathogens.
• Conducting a correlation analysis to identify potential lead probiotic strains that antagonize these pathogens and discovering metabolites that can interrupt their interactions.
• Creating a prototype formulation for testing.
• Validating the efficacy of the candidate formulation via preclinical in vitro and in vivo testing.
• Conducting clinical testing.

Dr. Ghannoum recommends that companies use a similar process “to provide evidence that what they are doing will be helpful, not only for them but also for the reputation of the whole industry.”
 

Potential Pitfalls

Whether test results from commercial companies are positioned as wellness aids or diagnostic tools, providing advice based on the results “is where the danger can really come in,” Dr. Kao said. “There is still so much we don’t know about which microbial signatures are associated with each condition.”

“Even when we have a solution, like the Crohn’s exclusion diet, a physician doesn’t know enough of the nuances to give advice to a patient,” she said. “That really should be done under the guidance of an expert dietitian. And if a company is selling probiotics, I personally feel that’s not ethical. I’m pretty sure there’s always going to be some kind of conflict of interest.”

Supplements and probiotics are generally safe, but negative consequences can occur, Dr. von Rosenvinge noted.

“We occasionally see people who end up with liver problems as a result of certain supplements, and rarely, probiotics have been associated with infections from those organisms, usually in those with a compromised immune system,” he said.

Other risks include people taking supplements or probiotics when they actually have a medically treatable condition or delays in diagnosis of a potentially serious underlying condition, such as colon cancer, he said. Some patients may stop taking their traditional medication in favor of taking supplements or may experience a drug-supplement interaction if they take both.
 

What to Tell Patients

“Doctors should be advising against this testing for their patients,” gastroenterologist Colleen R. Kelly, MD, AGAF, Brigham and Women’s Hospital, Boston, said in an interview. “I explain to patients that these tests are not validated and are clinically meaningless data and not worth the money. There is a reason they are not covered by insurance.

“Recommendations to purchase probiotics or supplements manufactured by the testing company to ‘restore a balanced or healthy microbiome’ clearly seem like a scam,” she added. “I believe some of these companies are capitalizing on patients who are desperate for answers to explain chronic symptoms, such as bloating in irritable bowel syndrome.”

Dr. von Rosenvinge said that the message to patients “is that the science isn’t there yet to support using the results of these tests in a meaningful way. We believe the microbiome is very important in health and disease, but the tests themselves in their current state are not as reliable and reproducible as we would like.”

When patients come in with test results, the first question a clinician should ask is what led them to seek out this type of information in the first place, Dr. von Rosenvinge said.

“Our patient focus groups suggested that many have not gotten clear, satisfactory answers from traditional medicine,” he said. “We don’t have a single test that says, yes, you have irritable bowel syndrome, or no, you don’t. We might suggest things that are helpful for some people and are less helpful for others.”

Dr. Kelly said she worries that “there are snake oil salesmen and cons out there who will gladly take your money. These may be smart people, capable of doing very high-level testing, and even producing very detailed and accurate results, but that doesn’t mean we know what to do with them.”

She hopes to see a microbiome-based diagnostic test in the future, particularly if the ability to therapeutically manipulate the gut microbiome in various diseases becomes a reality.
 

Educate Clinicians, Companies

More education is needed on the subject, so we can become “microbial clinicians,” Dr. Kao said.

“The microbiome never came up when I was going through my medical education,” she said. But we, and the next generation of physicians, “need to at least be able to understand the basics.

“Hopefully, one day, we will be in a position where we can have meaningful interpretations of the test results and make some kind of meaningful dietary interventions,” Dr. Kao added.

As for clinicians who are currently ordering these tests and products directly from the DTC companies, Dr. Kao said, “I roll my eyes.”

Dr. Ghannoum reiterated that companies offering microbiome tests and products also need to be educated and encouraged to use systematic approaches to product development and interpretation.

“Companies should be open to calls from clinicians and be ready to explain findings on a report, as well as the basis for any recommendations,” he said.

Dr. von Rosenvinge, Dr. Kao, and Dr. Kelly had no relevant conflicts of interest. Dr. Ghannoum is a cofounder of BIOHM.

A version of this article appeared on Medscape.com.

Companies selling gut microbiome tests directly to consumers offer up a variety of claims to promote their products.

“We analyze the trillions of microbes in your gut microflora and craft a unique formula for your unique gut needs,” one says. “Get actionable dietary, supplement, and lifestyle recommendations from our microbiome experts based on your results, tailored to mom and baby’s biomarkers. ... Any family member like dads or siblings are welcome too,” says another.

The companies assert that they can improve gut health by offering individuals personalized treatments based on their gut microbiome test results. The trouble is, no provider, company, or technology can reliably do that yet.
 

Clinical Implications, Not Applications

The microbiome is the “constellation of microorganisms that call the human body home,” including many strains of bacteria, fungi, and viruses. That constellation comprises some 39 trillion cells.

Although knowledge is increasing on the oral, cutaneous, and vaginal microbiomes, the gut microbiome is arguably the most studied. However, while research is increasingly demonstrating that the gut microbiome has clinical implications, much work needs to be done before reliable applications based on that research are available.

But lack of scientific evidence and validity hasn’t stopped a growing number of companies across the globe from offering direct-to-consumer (DTC) microbiome tests, Erik C. von Rosenvinge, MD, AGAF, a professor at the University of Maryland School of Medicine and chief of gastroenterology at the VA Maryland Health Care System, Baltimore, said in an interview.

“If you go to their websites, even if it’s not stated overtly, these companies at least give the impression that they’re providing actionable, useful information,” he said. “The sites recommend microbiome testing, and often supplements, probiotics, or other products that they sell. And consumers are told they need to be tested again once they start taking any of these products to see if they’re receiving any benefit.”

Dr. von Rosenvinge and colleagues authored a recent article in Science  arguing that DTC microbiome tests “lack analytical and clinical validity” — and yet regulation of the industry has been “generally ignored.” They identified 31 companies globally, 17 of which are based in the United States, claiming to have products and/or services aimed at changing the intestinal microbiome.
 

Unreliable, Unregulated

The lack of reliability has been shown by experts who have tested the tests.

“People have taken the same stool sample, sent it to multiple companies, and gotten different results back,” Dr. von Rosenvinge said. “People also have taken a stool sample and sent it to the same company under two different names and received two different results. If the test is unreliable at its foundational level, it’s hard to use it in any clinical way.”

Test users’ methods and the companies’ procedures can affect the results, Dina Kao, MD, a professor at the University of Alberta, Edmonton, Alberta, Canada, said in an interview.

“So many biases can be introduced at every single step of the way, starting from how the stool sample was collected and how it’s preserved or not being preserved, because that can introduce a lot of noise that would change the analyses. Which primer they’re using to amplify the signals and which bioinformatic pipeline they use are also important,” said Dr. Kao, who presented at the recent Gut Microbiota for Health World Summit, organized by the American Gastroenterological Association (AGA) and the European Society of Neurogastroenterology and Motility (ESNM).

Different investigators and companies use different technologies, so it’s very difficult to compare them and to create a standard, said Mahmoud Ghannoum, PhD, a professor in the dermatology and pathology departments at Case Western Reserve University School of Medicine and director of the Center for Medical Mycology at University Hospitals in Cleveland.

The complexity of the gut microbiome makes test standardization more difficult than it is when just one organism is involved, Dr. Ghannoum, who chaired the antifungal subcommittee at the Clinical and Laboratory Standards Institute, said in an interview.

“Even though many researchers are focusing on bacteria, we also have fungi and viruses. We need standardization of methods for testing these organisms if we want to have regulations,” said Dr. Ghannoum, a cofounder of BIOHM, a microbiome company that offers nondiagnostic tests and markets a variety of probiotics, prebiotics, and immunity supplements. BIOHM is one of the 31 companies identified by Dr. von Rosenvinge and colleagues, as noted above.

Dr. Ghannoum believes that taking a systematic approach could facilitate standardization and, ultimately, regulation of the DTC microbiome testing products. He and his colleagues described such an approach by outlining the stages for designing probiotics capable of modulating the microbiome in chronic diseases, using Crohn’s disease as a model. Their strategy involved the following steps:

• Using primary microbiome data to identify, by abundance, the microorganisms underlying dysbiosis.
• Gaining insight into the interactions among the identified pathogens.
• Conducting a correlation analysis to identify potential lead probiotic strains that antagonize these pathogens and discovering metabolites that can interrupt their interactions.
• Creating a prototype formulation for testing.
• Validating the efficacy of the candidate formulation via preclinical in vitro and in vivo testing.
• Conducting clinical testing.

Dr. Ghannoum recommends that companies use a similar process “to provide evidence that what they are doing will be helpful, not only for them but also for the reputation of the whole industry.”
 

Potential Pitfalls

Whether test results from commercial companies are positioned as wellness aids or diagnostic tools, providing advice based on the results “is where the danger can really come in,” Dr. Kao said. “There is still so much we don’t know about which microbial signatures are associated with each condition.”

“Even when we have a solution, like the Crohn’s exclusion diet, a physician doesn’t know enough of the nuances to give advice to a patient,” she said. “That really should be done under the guidance of an expert dietitian. And if a company is selling probiotics, I personally feel that’s not ethical. I’m pretty sure there’s always going to be some kind of conflict of interest.”

Supplements and probiotics are generally safe, but negative consequences can occur, Dr. von Rosenvinge noted.

“We occasionally see people who end up with liver problems as a result of certain supplements, and rarely, probiotics have been associated with infections from those organisms, usually in those with a compromised immune system,” he said.

Other risks include people taking supplements or probiotics when they actually have a medically treatable condition or delays in diagnosis of a potentially serious underlying condition, such as colon cancer, he said. Some patients may stop taking their traditional medication in favor of taking supplements or may experience a drug-supplement interaction if they take both.
 

What to Tell Patients

“Doctors should be advising against this testing for their patients,” gastroenterologist Colleen R. Kelly, MD, AGAF, Brigham and Women’s Hospital, Boston, said in an interview. “I explain to patients that these tests are not validated and are clinically meaningless data and not worth the money. There is a reason they are not covered by insurance.

“Recommendations to purchase probiotics or supplements manufactured by the testing company to ‘restore a balanced or healthy microbiome’ clearly seem like a scam,” she added. “I believe some of these companies are capitalizing on patients who are desperate for answers to explain chronic symptoms, such as bloating in irritable bowel syndrome.”

Dr. von Rosenvinge said that the message to patients “is that the science isn’t there yet to support using the results of these tests in a meaningful way. We believe the microbiome is very important in health and disease, but the tests themselves in their current state are not as reliable and reproducible as we would like.”

When patients come in with test results, the first question a clinician should ask is what led them to seek out this type of information in the first place, Dr. von Rosenvinge said.

“Our patient focus groups suggested that many have not gotten clear, satisfactory answers from traditional medicine,” he said. “We don’t have a single test that says, yes, you have irritable bowel syndrome, or no, you don’t. We might suggest things that are helpful for some people and are less helpful for others.”

Dr. Kelly said she worries that “there are snake oil salesmen and cons out there who will gladly take your money. These may be smart people, capable of doing very high-level testing, and even producing very detailed and accurate results, but that doesn’t mean we know what to do with them.”

She hopes to see a microbiome-based diagnostic test in the future, particularly if the ability to therapeutically manipulate the gut microbiome in various diseases becomes a reality.
 

Educate Clinicians, Companies

More education is needed on the subject, so we can become “microbial clinicians,” Dr. Kao said.

“The microbiome never came up when I was going through my medical education,” she said. But we, and the next generation of physicians, “need to at least be able to understand the basics.

“Hopefully, one day, we will be in a position where we can have meaningful interpretations of the test results and make some kind of meaningful dietary interventions,” Dr. Kao added.

As for clinicians who are currently ordering these tests and products directly from the DTC companies, Dr. Kao said, “I roll my eyes.”

Dr. Ghannoum reiterated that companies offering microbiome tests and products also need to be educated and encouraged to use systematic approaches to product development and interpretation.

“Companies should be open to calls from clinicians and be ready to explain findings on a report, as well as the basis for any recommendations,” he said.

Dr. von Rosenvinge, Dr. Kao, and Dr. Kelly had no relevant conflicts of interest. Dr. Ghannoum is a cofounder of BIOHM.

A version of this article appeared on Medscape.com.

Companies selling gut microbiome tests directly to consumers offer up a variety of claims to promote their products.

“We analyze the trillions of microbes in your gut microflora and craft a unique formula for your unique gut needs,” one says. “Get actionable dietary, supplement, and lifestyle recommendations from our microbiome experts based on your results, tailored to mom and baby’s biomarkers. ... Any family member like dads or siblings are welcome too,” says another.

The companies assert that they can improve gut health by offering individuals personalized treatments based on their gut microbiome test results. The trouble is, no provider, company, or technology can reliably do that yet.
 

Clinical Implications, Not Applications

The microbiome is the “constellation of microorganisms that call the human body home,” including many strains of bacteria, fungi, and viruses. That constellation comprises some 39 trillion cells.

Although knowledge is increasing on the oral, cutaneous, and vaginal microbiomes, the gut microbiome is arguably the most studied. However, while research is increasingly demonstrating that the gut microbiome has clinical implications, much work needs to be done before reliable applications based on that research are available.

But lack of scientific evidence and validity hasn’t stopped a growing number of companies across the globe from offering direct-to-consumer (DTC) microbiome tests, Erik C. von Rosenvinge, MD, AGAF, a professor at the University of Maryland School of Medicine and chief of gastroenterology at the VA Maryland Health Care System, Baltimore, said in an interview.

“If you go to their websites, even if it’s not stated overtly, these companies at least give the impression that they’re providing actionable, useful information,” he said. “The sites recommend microbiome testing, and often supplements, probiotics, or other products that they sell. And consumers are told they need to be tested again once they start taking any of these products to see if they’re receiving any benefit.”

Dr. von Rosenvinge and colleagues authored a recent article in Science  arguing that DTC microbiome tests “lack analytical and clinical validity” — and yet regulation of the industry has been “generally ignored.” They identified 31 companies globally, 17 of which are based in the United States, claiming to have products and/or services aimed at changing the intestinal microbiome.
 

Unreliable, Unregulated

The lack of reliability has been shown by experts who have tested the tests.

“People have taken the same stool sample, sent it to multiple companies, and gotten different results back,” Dr. von Rosenvinge said. “People also have taken a stool sample and sent it to the same company under two different names and received two different results. If the test is unreliable at its foundational level, it’s hard to use it in any clinical way.”

Test users’ methods and the companies’ procedures can affect the results, Dina Kao, MD, a professor at the University of Alberta, Edmonton, Alberta, Canada, said in an interview.

“So many biases can be introduced at every single step of the way, starting from how the stool sample was collected and how it’s preserved or not being preserved, because that can introduce a lot of noise that would change the analyses. Which primer they’re using to amplify the signals and which bioinformatic pipeline they use are also important,” said Dr. Kao, who presented at the recent Gut Microbiota for Health World Summit, organized by the American Gastroenterological Association (AGA) and the European Society of Neurogastroenterology and Motility (ESNM).

Different investigators and companies use different technologies, so it’s very difficult to compare them and to create a standard, said Mahmoud Ghannoum, PhD, a professor in the dermatology and pathology departments at Case Western Reserve University School of Medicine and director of the Center for Medical Mycology at University Hospitals in Cleveland.

The complexity of the gut microbiome makes test standardization more difficult than it is when just one organism is involved, Dr. Ghannoum, who chaired the antifungal subcommittee at the Clinical and Laboratory Standards Institute, said in an interview.

“Even though many researchers are focusing on bacteria, we also have fungi and viruses. We need standardization of methods for testing these organisms if we want to have regulations,” said Dr. Ghannoum, a cofounder of BIOHM, a microbiome company that offers nondiagnostic tests and markets a variety of probiotics, prebiotics, and immunity supplements. BIOHM is one of the 31 companies identified by Dr. von Rosenvinge and colleagues, as noted above.

Dr. Ghannoum believes that taking a systematic approach could facilitate standardization and, ultimately, regulation of the DTC microbiome testing products. He and his colleagues described such an approach by outlining the stages for designing probiotics capable of modulating the microbiome in chronic diseases, using Crohn’s disease as a model. Their strategy involved the following steps:

• Using primary microbiome data to identify, by abundance, the microorganisms underlying dysbiosis.
• Gaining insight into the interactions among the identified pathogens.
• Conducting a correlation analysis to identify potential lead probiotic strains that antagonize these pathogens and discovering metabolites that can interrupt their interactions.
• Creating a prototype formulation for testing.
• Validating the efficacy of the candidate formulation via preclinical in vitro and in vivo testing.
• Conducting clinical testing.

Dr. Ghannoum recommends that companies use a similar process “to provide evidence that what they are doing will be helpful, not only for them but also for the reputation of the whole industry.”
 

Potential Pitfalls

Whether test results from commercial companies are positioned as wellness aids or diagnostic tools, providing advice based on the results “is where the danger can really come in,” Dr. Kao said. “There is still so much we don’t know about which microbial signatures are associated with each condition.”

“Even when we have a solution, like the Crohn’s exclusion diet, a physician doesn’t know enough of the nuances to give advice to a patient,” she said. “That really should be done under the guidance of an expert dietitian. And if a company is selling probiotics, I personally feel that’s not ethical. I’m pretty sure there’s always going to be some kind of conflict of interest.”

Supplements and probiotics are generally safe, but negative consequences can occur, Dr. von Rosenvinge noted.

“We occasionally see people who end up with liver problems as a result of certain supplements, and rarely, probiotics have been associated with infections from those organisms, usually in those with a compromised immune system,” he said.

Other risks include people taking supplements or probiotics when they actually have a medically treatable condition or delays in diagnosis of a potentially serious underlying condition, such as colon cancer, he said. Some patients may stop taking their traditional medication in favor of taking supplements or may experience a drug-supplement interaction if they take both.
 

What to Tell Patients

“Doctors should be advising against this testing for their patients,” gastroenterologist Colleen R. Kelly, MD, AGAF, Brigham and Women’s Hospital, Boston, said in an interview. “I explain to patients that these tests are not validated and are clinically meaningless data and not worth the money. There is a reason they are not covered by insurance.

“Recommendations to purchase probiotics or supplements manufactured by the testing company to ‘restore a balanced or healthy microbiome’ clearly seem like a scam,” she added. “I believe some of these companies are capitalizing on patients who are desperate for answers to explain chronic symptoms, such as bloating in irritable bowel syndrome.”

Dr. von Rosenvinge said that the message to patients “is that the science isn’t there yet to support using the results of these tests in a meaningful way. We believe the microbiome is very important in health and disease, but the tests themselves in their current state are not as reliable and reproducible as we would like.”

When patients come in with test results, the first question a clinician should ask is what led them to seek out this type of information in the first place, Dr. von Rosenvinge said.

“Our patient focus groups suggested that many have not gotten clear, satisfactory answers from traditional medicine,” he said. “We don’t have a single test that says, yes, you have irritable bowel syndrome, or no, you don’t. We might suggest things that are helpful for some people and are less helpful for others.”

Dr. Kelly said she worries that “there are snake oil salesmen and cons out there who will gladly take your money. These may be smart people, capable of doing very high-level testing, and even producing very detailed and accurate results, but that doesn’t mean we know what to do with them.”

She hopes to see a microbiome-based diagnostic test in the future, particularly if the ability to therapeutically manipulate the gut microbiome in various diseases becomes a reality.
 

Educate Clinicians, Companies

More education is needed on the subject, so we can become “microbial clinicians,” Dr. Kao said.

“The microbiome never came up when I was going through my medical education,” she said. But we, and the next generation of physicians, “need to at least be able to understand the basics.

“Hopefully, one day, we will be in a position where we can have meaningful interpretations of the test results and make some kind of meaningful dietary interventions,” Dr. Kao added.

As for clinicians who are currently ordering these tests and products directly from the DTC companies, Dr. Kao said, “I roll my eyes.”

Dr. Ghannoum reiterated that companies offering microbiome tests and products also need to be educated and encouraged to use systematic approaches to product development and interpretation.

“Companies should be open to calls from clinicians and be ready to explain findings on a report, as well as the basis for any recommendations,” he said.

Dr. von Rosenvinge, Dr. Kao, and Dr. Kelly had no relevant conflicts of interest. Dr. Ghannoum is a cofounder of BIOHM.

A version of this article appeared on Medscape.com.

TOPLINE:

The time interval between onset of interstitial lung disease (ILD) and diagnosis of anti–melanoma differentiation-associated gene 5 (MDA5) antibody-positive dermatomyositis (DM) “has not been well described,” the authors say.

METHODOLOGY:

• MDA5 antibody-positive DM is a rare DM subtype associated with ILD, which is categorized into rapidly progressive ILD (RPILD) and chronic ILD, with the former having a particularly high mortality rate.
• In this retrospective cohort study using electronic medical records, researchers evaluated 774 patients with DM between 2008 and 2023 to learn more about the time interval between ILD and the time of an MDA5 antibody-positive DM diagnosis, which has not been well described.
• The primary outcome was ILD diagnosis and time in days between documented ILD and MDA5 antibody-positive DM diagnoses.

TAKEAWAY:

• Overall, 14 patients with DM (1.8%) were diagnosed with MDA5 antibody-positive DM in dermatology, rheumatology, or pulmonology departments (nine women and five men; age, 24-77 years; 79% were White and 7% were Black).
• ILD was diagnosed in 9 of the 14 patients (64%); 6 of the 14 (43%) met the criteria for RPILD. Two cases were diagnosed concurrently and two prior to MDA5 antibody-positive DM diagnosis.
• The median time between ILD and MDA5 antibody-positive DM diagnoses was 163 days.
• Gottron papules/sign and midfacial erythema were the most common dermatologic findings, and no association was seen between cutaneous signs and type of ILD.

IN PRACTICE:

“Establishing an accurate timeline between MDA5 antibody-positive DM and ILD can promote urgency among dermatologists to evaluate extracutaneous manifestations in their management of patients with DM for more accurate risk stratification and appropriate treatment,” the authors wrote.

SOURCE:

This study, led by Rachel R. Lin, from the University of Miami, Miami, Florida, was published online as a research letter in JAMA Dermatology.

LIMITATIONS:

Study limitations were the study’s retrospective design and small sample size.

DISCLOSURES:

No information on study funding was provided. One author reported personal fees from argenX outside this submitted work. Other authors did not disclose any competing interests.

A version of this article appeared on Medscape.com.

TOPLINE:

The time interval between onset of interstitial lung disease (ILD) and diagnosis of anti–melanoma differentiation-associated gene 5 (MDA5) antibody-positive dermatomyositis (DM) “has not been well described,” the authors say.

METHODOLOGY:

• MDA5 antibody-positive DM is a rare DM subtype associated with ILD, which is categorized into rapidly progressive ILD (RPILD) and chronic ILD, with the former having a particularly high mortality rate.
• In this retrospective cohort study using electronic medical records, researchers evaluated 774 patients with DM between 2008 and 2023 to learn more about the time interval between ILD and the time of an MDA5 antibody-positive DM diagnosis, which has not been well described.
• The primary outcome was ILD diagnosis and time in days between documented ILD and MDA5 antibody-positive DM diagnoses.

TAKEAWAY:

• Overall, 14 patients with DM (1.8%) were diagnosed with MDA5 antibody-positive DM in dermatology, rheumatology, or pulmonology departments (nine women and five men; age, 24-77 years; 79% were White and 7% were Black).
• ILD was diagnosed in 9 of the 14 patients (64%); 6 of the 14 (43%) met the criteria for RPILD. Two cases were diagnosed concurrently and two prior to MDA5 antibody-positive DM diagnosis.
• The median time between ILD and MDA5 antibody-positive DM diagnoses was 163 days.
• Gottron papules/sign and midfacial erythema were the most common dermatologic findings, and no association was seen between cutaneous signs and type of ILD.

IN PRACTICE:

“Establishing an accurate timeline between MDA5 antibody-positive DM and ILD can promote urgency among dermatologists to evaluate extracutaneous manifestations in their management of patients with DM for more accurate risk stratification and appropriate treatment,” the authors wrote.

SOURCE:

This study, led by Rachel R. Lin, from the University of Miami, Miami, Florida, was published online as a research letter in JAMA Dermatology.

LIMITATIONS:

Study limitations were the study’s retrospective design and small sample size.

DISCLOSURES:

No information on study funding was provided. One author reported personal fees from argenX outside this submitted work. Other authors did not disclose any competing interests.

A version of this article appeared on Medscape.com.

TOPLINE:

The time interval between onset of interstitial lung disease (ILD) and diagnosis of anti–melanoma differentiation-associated gene 5 (MDA5) antibody-positive dermatomyositis (DM) “has not been well described,” the authors say.

METHODOLOGY:

• MDA5 antibody-positive DM is a rare DM subtype associated with ILD, which is categorized into rapidly progressive ILD (RPILD) and chronic ILD, with the former having a particularly high mortality rate.
• In this retrospective cohort study using electronic medical records, researchers evaluated 774 patients with DM between 2008 and 2023 to learn more about the time interval between ILD and the time of an MDA5 antibody-positive DM diagnosis, which has not been well described.
• The primary outcome was ILD diagnosis and time in days between documented ILD and MDA5 antibody-positive DM diagnoses.

TAKEAWAY:

• Overall, 14 patients with DM (1.8%) were diagnosed with MDA5 antibody-positive DM in dermatology, rheumatology, or pulmonology departments (nine women and five men; age, 24-77 years; 79% were White and 7% were Black).
• ILD was diagnosed in 9 of the 14 patients (64%); 6 of the 14 (43%) met the criteria for RPILD. Two cases were diagnosed concurrently and two prior to MDA5 antibody-positive DM diagnosis.
• The median time between ILD and MDA5 antibody-positive DM diagnoses was 163 days.
• Gottron papules/sign and midfacial erythema were the most common dermatologic findings, and no association was seen between cutaneous signs and type of ILD.

IN PRACTICE:

“Establishing an accurate timeline between MDA5 antibody-positive DM and ILD can promote urgency among dermatologists to evaluate extracutaneous manifestations in their management of patients with DM for more accurate risk stratification and appropriate treatment,” the authors wrote.

SOURCE:

This study, led by Rachel R. Lin, from the University of Miami, Miami, Florida, was published online as a research letter in JAMA Dermatology.

LIMITATIONS:

Study limitations were the study’s retrospective design and small sample size.

DISCLOSURES:

No information on study funding was provided. One author reported personal fees from argenX outside this submitted work. Other authors did not disclose any competing interests.

A version of this article appeared on Medscape.com.

TOPLINE:

Signals for keratoacanthoma and cutaneous squamous cell carcinoma (cSCC) with programmed cell death 1 (PD-1) and programmed cell death ligand 1 (PD-L1) inhibitors were detected in an analysis of adverse events (AEs) reported to the US Food and Drug Administration (FDA).

METHODOLOGY:

• The risk for dermatologic immune-related side effects may be increased with immunologic-modifying drugs.
• To determine if there are significant signals between keratoacanthomas and cSCCs and PD-1/PD-L1 inhibitors, researchers analyzed AEs associated with these agents reported to the FDA’s Adverse Event Reporting System (FAERS) between January 2004 and May 2023.
• Pharmacovigilance signals were identified, and a significant signal was defined as the lower 95% CI of a reporting odds ratio (ROR) greater than one or the lower 95% CI of an information component (IC) greater than 0.

TAKEAWAY:

• Of the 158,000 reports of PD-1/PD-L1 inhibitor use, 43 were in patients who developed a keratoacanthoma (mean age, 77 years; 39% women) and 83 were in patients who developed cSCC (mean age, 71 years; 41% women). Patients aged 60-79 years were most likely to develop keratoacanthomas and cSCC on these treatments.
• A PD-1/PD-L1 inhibitor was listed as the suspect drug in all 43 keratoacanthoma reports and in 70 of 83 cSCC reports (the remaining 13 listed them as the concomitant drug).
• Significant signals were reported for both keratoacanthoma (ROR, 9.7; IC, 1.9) and cSCC (ROR, 3.0; IC, 0.9) with PD-1/PD-L1 inhibitor use.
• Of the reports where this information was available, all 10 cases of PD-1/PD-L1 inhibitor–linked keratoacanthoma and 10 of 17 cases (59%) of PD-1/PD-L1 inhibitor–linked cSCC, resolution was noted following discontinuation or dose reduction of the inhibitor.

IN PRACTICE:

“Given the large number of patients receiving immunotherapy, FAERS recording only 43 patients developing keratoacanthoma and 83 patients developing cSCC highlights that these conditions are relatively rare adverse events,” the authors wrote but added that more studies are needed to confirm these results.

SOURCE:

The study, led by Pushkar Aggarwal, MD, MBA, of the Department of Dermatology, University of Cincinnati, Cincinnati, Ohio, was published online in JAMA Dermatology.

LIMITATIONS:

The data obtained from FAERS did not contain information on all AEs from drugs. In addition, a causal association could not be determined.

DISCLOSURES:

The funding source was not reported. The authors did not report any conflicts of interest.

A version of this article appeared on Medscape.com.

TOPLINE:

Signals for keratoacanthoma and cutaneous squamous cell carcinoma (cSCC) with programmed cell death 1 (PD-1) and programmed cell death ligand 1 (PD-L1) inhibitors were detected in an analysis of adverse events (AEs) reported to the US Food and Drug Administration (FDA).

METHODOLOGY:

• The risk for dermatologic immune-related side effects may be increased with immunologic-modifying drugs.
• To determine if there are significant signals between keratoacanthomas and cSCCs and PD-1/PD-L1 inhibitors, researchers analyzed AEs associated with these agents reported to the FDA’s Adverse Event Reporting System (FAERS) between January 2004 and May 2023.
• Pharmacovigilance signals were identified, and a significant signal was defined as the lower 95% CI of a reporting odds ratio (ROR) greater than one or the lower 95% CI of an information component (IC) greater than 0.

TAKEAWAY:

• Of the 158,000 reports of PD-1/PD-L1 inhibitor use, 43 were in patients who developed a keratoacanthoma (mean age, 77 years; 39% women) and 83 were in patients who developed cSCC (mean age, 71 years; 41% women). Patients aged 60-79 years were most likely to develop keratoacanthomas and cSCC on these treatments.
• A PD-1/PD-L1 inhibitor was listed as the suspect drug in all 43 keratoacanthoma reports and in 70 of 83 cSCC reports (the remaining 13 listed them as the concomitant drug).
• Significant signals were reported for both keratoacanthoma (ROR, 9.7; IC, 1.9) and cSCC (ROR, 3.0; IC, 0.9) with PD-1/PD-L1 inhibitor use.
• Of the reports where this information was available, all 10 cases of PD-1/PD-L1 inhibitor–linked keratoacanthoma and 10 of 17 cases (59%) of PD-1/PD-L1 inhibitor–linked cSCC, resolution was noted following discontinuation or dose reduction of the inhibitor.

IN PRACTICE:

“Given the large number of patients receiving immunotherapy, FAERS recording only 43 patients developing keratoacanthoma and 83 patients developing cSCC highlights that these conditions are relatively rare adverse events,” the authors wrote but added that more studies are needed to confirm these results.

SOURCE:

The study, led by Pushkar Aggarwal, MD, MBA, of the Department of Dermatology, University of Cincinnati, Cincinnati, Ohio, was published online in JAMA Dermatology.

LIMITATIONS:

The data obtained from FAERS did not contain information on all AEs from drugs. In addition, a causal association could not be determined.

DISCLOSURES:

The funding source was not reported. The authors did not report any conflicts of interest.

A version of this article appeared on Medscape.com.

TOPLINE:

Signals for keratoacanthoma and cutaneous squamous cell carcinoma (cSCC) with programmed cell death 1 (PD-1) and programmed cell death ligand 1 (PD-L1) inhibitors were detected in an analysis of adverse events (AEs) reported to the US Food and Drug Administration (FDA).

METHODOLOGY:

• The risk for dermatologic immune-related side effects may be increased with immunologic-modifying drugs.
• To determine if there are significant signals between keratoacanthomas and cSCCs and PD-1/PD-L1 inhibitors, researchers analyzed AEs associated with these agents reported to the FDA’s Adverse Event Reporting System (FAERS) between January 2004 and May 2023.
• Pharmacovigilance signals were identified, and a significant signal was defined as the lower 95% CI of a reporting odds ratio (ROR) greater than one or the lower 95% CI of an information component (IC) greater than 0.

TAKEAWAY:

• Of the 158,000 reports of PD-1/PD-L1 inhibitor use, 43 were in patients who developed a keratoacanthoma (mean age, 77 years; 39% women) and 83 were in patients who developed cSCC (mean age, 71 years; 41% women). Patients aged 60-79 years were most likely to develop keratoacanthomas and cSCC on these treatments.
• A PD-1/PD-L1 inhibitor was listed as the suspect drug in all 43 keratoacanthoma reports and in 70 of 83 cSCC reports (the remaining 13 listed them as the concomitant drug).
• Significant signals were reported for both keratoacanthoma (ROR, 9.7; IC, 1.9) and cSCC (ROR, 3.0; IC, 0.9) with PD-1/PD-L1 inhibitor use.
• Of the reports where this information was available, all 10 cases of PD-1/PD-L1 inhibitor–linked keratoacanthoma and 10 of 17 cases (59%) of PD-1/PD-L1 inhibitor–linked cSCC, resolution was noted following discontinuation or dose reduction of the inhibitor.

IN PRACTICE:

“Given the large number of patients receiving immunotherapy, FAERS recording only 43 patients developing keratoacanthoma and 83 patients developing cSCC highlights that these conditions are relatively rare adverse events,” the authors wrote but added that more studies are needed to confirm these results.

SOURCE:

The study, led by Pushkar Aggarwal, MD, MBA, of the Department of Dermatology, University of Cincinnati, Cincinnati, Ohio, was published online in JAMA Dermatology.

LIMITATIONS:

The data obtained from FAERS did not contain information on all AEs from drugs. In addition, a causal association could not be determined.

DISCLOSURES:

The funding source was not reported. The authors did not report any conflicts of interest.

A version of this article appeared on Medscape.com.

BY DEEPA VARMA

TOPLINE:

In patients with polycystic ovary syndrome (PCOS), laser and light therapies, alone or in combination with pharmacological agents, improve hirsutism and psychological well-being in women, according to the results of a systematic review.

METHODOLOGY:

• Hirsutism, which affects 70%-80% of women with PCOS, is frequently marginalized as a cosmetic issue by healthcare providers, despite its significant psychological repercussions, including diminished self-esteem, reduced quality of life, and heightened depression.
• The 2023 international evidence-based PCOS guideline considers managing hirsutism a priority in women with PCOS.
• Researchers reviewed six studies (four randomized controlled trials and two cohort studies), which included 423 patients with PCOS who underwent laser or light-based hair reduction therapies, published through 2022.
• The studies evaluated the alexandrite laser, diode laser, and intense pulsed light (IPL) therapy, with and without pharmacological treatments. The main outcomes were hirsutism severity, psychological outcome, and adverse events.

TAKEAWAY:

• Alexandrite laser (wavelength, 755 nm) showed effective hair reduction and improved patient satisfaction (one study); high-fluence treatment yielded better outcomes than low-fluence treatment (one study). Alexandrite laser 755 nm also showed longer hair-free intervals and greater hair reduction than IPL therapy at 650-1000 nm (one study).
• Combined IPL (600 nm) and metformin therapy improved hirsutism and hair count reduction compared with IPL alone, but with more side effects (one study).
• Diode laser treatments (810 nm) with combined oral contraceptives improved hirsutism and related quality of life measures compared with diode laser alone or with metformin (one study).
• Comparing two diode lasers (wavelengths, 810 nm), low-fluence, high repetition laser showed superior hair width reduction and lower pain scores than high fluence, low-repetition laser (one study).

IN PRACTICE:

Laser and light treatments alone or combined with other treatments have demonstrated “encouraging results in reducing hirsutism severity, enhancing psychological well-being, and improving overall quality of life for affected individuals,” the authors wrote, noting that additional high-quality trials evaluating these treatments, which include more patients with different skin tones, are needed.

SOURCE:

The first author of the review is Katrina Tan, MD, Monash Health, Department of Dermatology, Melbourne, Victoria, Australia, and it was published online in JAMA Dermatology.

LIMITATIONS:

Limitations include low certainty of evidence because of the observational nature of some of the studies, the small number of studies, and underrepresentation of darker skin types, limiting generalizability.

DISCLOSURES:

The review is part of an update to the PCOS guideline, which was funded by the Australian National Health and Medical Research Council through various organizations. Several authors reported receiving grants and personal fees outside this work. Dr. Tan was a member of the 2023 PCOS guideline evidence team. Other authors declared no conflicts of interest.

A version of this article appeared on Medscape.com.

BY DEEPA VARMA

TOPLINE:

In patients with polycystic ovary syndrome (PCOS), laser and light therapies, alone or in combination with pharmacological agents, improve hirsutism and psychological well-being in women, according to the results of a systematic review.

METHODOLOGY:

• Hirsutism, which affects 70%-80% of women with PCOS, is frequently marginalized as a cosmetic issue by healthcare providers, despite its significant psychological repercussions, including diminished self-esteem, reduced quality of life, and heightened depression.
• The 2023 international evidence-based PCOS guideline considers managing hirsutism a priority in women with PCOS.
• Researchers reviewed six studies (four randomized controlled trials and two cohort studies), which included 423 patients with PCOS who underwent laser or light-based hair reduction therapies, published through 2022.
• The studies evaluated the alexandrite laser, diode laser, and intense pulsed light (IPL) therapy, with and without pharmacological treatments. The main outcomes were hirsutism severity, psychological outcome, and adverse events.

TAKEAWAY:

• Alexandrite laser (wavelength, 755 nm) showed effective hair reduction and improved patient satisfaction (one study); high-fluence treatment yielded better outcomes than low-fluence treatment (one study). Alexandrite laser 755 nm also showed longer hair-free intervals and greater hair reduction than IPL therapy at 650-1000 nm (one study).
• Combined IPL (600 nm) and metformin therapy improved hirsutism and hair count reduction compared with IPL alone, but with more side effects (one study).
• Diode laser treatments (810 nm) with combined oral contraceptives improved hirsutism and related quality of life measures compared with diode laser alone or with metformin (one study).
• Comparing two diode lasers (wavelengths, 810 nm), low-fluence, high repetition laser showed superior hair width reduction and lower pain scores than high fluence, low-repetition laser (one study).

IN PRACTICE:

Laser and light treatments alone or combined with other treatments have demonstrated “encouraging results in reducing hirsutism severity, enhancing psychological well-being, and improving overall quality of life for affected individuals,” the authors wrote, noting that additional high-quality trials evaluating these treatments, which include more patients with different skin tones, are needed.

SOURCE:

The first author of the review is Katrina Tan, MD, Monash Health, Department of Dermatology, Melbourne, Victoria, Australia, and it was published online in JAMA Dermatology.

LIMITATIONS:

Limitations include low certainty of evidence because of the observational nature of some of the studies, the small number of studies, and underrepresentation of darker skin types, limiting generalizability.

DISCLOSURES:

The review is part of an update to the PCOS guideline, which was funded by the Australian National Health and Medical Research Council through various organizations. Several authors reported receiving grants and personal fees outside this work. Dr. Tan was a member of the 2023 PCOS guideline evidence team. Other authors declared no conflicts of interest.

A version of this article appeared on Medscape.com.

BY DEEPA VARMA

TOPLINE:

In patients with polycystic ovary syndrome (PCOS), laser and light therapies, alone or in combination with pharmacological agents, improve hirsutism and psychological well-being in women, according to the results of a systematic review.

METHODOLOGY:

• Hirsutism, which affects 70%-80% of women with PCOS, is frequently marginalized as a cosmetic issue by healthcare providers, despite its significant psychological repercussions, including diminished self-esteem, reduced quality of life, and heightened depression.
• The 2023 international evidence-based PCOS guideline considers managing hirsutism a priority in women with PCOS.
• Researchers reviewed six studies (four randomized controlled trials and two cohort studies), which included 423 patients with PCOS who underwent laser or light-based hair reduction therapies, published through 2022.
• The studies evaluated the alexandrite laser, diode laser, and intense pulsed light (IPL) therapy, with and without pharmacological treatments. The main outcomes were hirsutism severity, psychological outcome, and adverse events.

TAKEAWAY:

• Alexandrite laser (wavelength, 755 nm) showed effective hair reduction and improved patient satisfaction (one study); high-fluence treatment yielded better outcomes than low-fluence treatment (one study). Alexandrite laser 755 nm also showed longer hair-free intervals and greater hair reduction than IPL therapy at 650-1000 nm (one study).
• Combined IPL (600 nm) and metformin therapy improved hirsutism and hair count reduction compared with IPL alone, but with more side effects (one study).
• Diode laser treatments (810 nm) with combined oral contraceptives improved hirsutism and related quality of life measures compared with diode laser alone or with metformin (one study).
• Comparing two diode lasers (wavelengths, 810 nm), low-fluence, high repetition laser showed superior hair width reduction and lower pain scores than high fluence, low-repetition laser (one study).

IN PRACTICE:

Laser and light treatments alone or combined with other treatments have demonstrated “encouraging results in reducing hirsutism severity, enhancing psychological well-being, and improving overall quality of life for affected individuals,” the authors wrote, noting that additional high-quality trials evaluating these treatments, which include more patients with different skin tones, are needed.

SOURCE:

The first author of the review is Katrina Tan, MD, Monash Health, Department of Dermatology, Melbourne, Victoria, Australia, and it was published online in JAMA Dermatology.

LIMITATIONS:

Limitations include low certainty of evidence because of the observational nature of some of the studies, the small number of studies, and underrepresentation of darker skin types, limiting generalizability.

DISCLOSURES:

The review is part of an update to the PCOS guideline, which was funded by the Australian National Health and Medical Research Council through various organizations. Several authors reported receiving grants and personal fees outside this work. Dr. Tan was a member of the 2023 PCOS guideline evidence team. Other authors declared no conflicts of interest.

A version of this article appeared on Medscape.com.