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Identifying Barriers in Germline Genetic Testing Referrals for Breast Cancer: A Single-Center Experience
Background
Purpose: to review the number of genetic testing referrals for breast cancer at the Stratton VA Medical Center and identify barriers that hinder testing, aiming to improve risk reduction strategies and therapeutic options for patients. National guidelines recommend genetic testing for breast cancer susceptibility genes in specific patient populations, such as those under 50, those with a high-risk family history, high-risk pathology, male breast cancer, or Ashkenazi Jewish ancestry. Despite efforts to adhere to these guidelines, several barriers persist that limit testing rates among eligible patients.
Methods
The medical oncology team selected breast cancer as the focus for reviewing adherence to germline genetic testing referrals in the Stratton VA Medical Center. With assistance from cancer registrars, a list of genetics referrals for breast cancer from January to December 2023 was compiled. Descriptive analysis was conducted to assess referral rates, evaluation visit completion rates, genetic testing outcomes, and reasons for non-completion of genetic testing.
Results
During the study period, 32 patients were referred for germline genetic testing for breast cancer. Of these, 26 (81%) completed the evaluation visit, and 11 (34%) underwent genetic testing. Of these, 7 patients had noteworthy results, and 2 patients (6%) were found to carry pathogenic variants: BRCA2 and CDH1. Reasons for non-completion included perceived irrelevance without biological children, need for additional time to consider testing, fear of exacerbating self-harm thoughts, and fear of losing service connection. Additionally, 2 patients did not meet the guidelines for testing per genetic counselor.
Conclusions
This project marks the initial step in identifying barriers to germline genetic testing for breast cancer based on an extensive review of patients diagnosed and treated at a single VA site. Despite the removal of the service connection clause from the consent form, some veterans still declined testing due to fear of losing their service connection. The findings emphasize the importance of educating providers on counseling techniques and education of veterans to enhance risk reduction strategies and patient care. Further research is essential to quantify the real-world outcomes and longterm impacts of improving genetic counseling rates on patient management and outcomes.
Background
Purpose: to review the number of genetic testing referrals for breast cancer at the Stratton VA Medical Center and identify barriers that hinder testing, aiming to improve risk reduction strategies and therapeutic options for patients. National guidelines recommend genetic testing for breast cancer susceptibility genes in specific patient populations, such as those under 50, those with a high-risk family history, high-risk pathology, male breast cancer, or Ashkenazi Jewish ancestry. Despite efforts to adhere to these guidelines, several barriers persist that limit testing rates among eligible patients.
Methods
The medical oncology team selected breast cancer as the focus for reviewing adherence to germline genetic testing referrals in the Stratton VA Medical Center. With assistance from cancer registrars, a list of genetics referrals for breast cancer from January to December 2023 was compiled. Descriptive analysis was conducted to assess referral rates, evaluation visit completion rates, genetic testing outcomes, and reasons for non-completion of genetic testing.
Results
During the study period, 32 patients were referred for germline genetic testing for breast cancer. Of these, 26 (81%) completed the evaluation visit, and 11 (34%) underwent genetic testing. Of these, 7 patients had noteworthy results, and 2 patients (6%) were found to carry pathogenic variants: BRCA2 and CDH1. Reasons for non-completion included perceived irrelevance without biological children, need for additional time to consider testing, fear of exacerbating self-harm thoughts, and fear of losing service connection. Additionally, 2 patients did not meet the guidelines for testing per genetic counselor.
Conclusions
This project marks the initial step in identifying barriers to germline genetic testing for breast cancer based on an extensive review of patients diagnosed and treated at a single VA site. Despite the removal of the service connection clause from the consent form, some veterans still declined testing due to fear of losing their service connection. The findings emphasize the importance of educating providers on counseling techniques and education of veterans to enhance risk reduction strategies and patient care. Further research is essential to quantify the real-world outcomes and longterm impacts of improving genetic counseling rates on patient management and outcomes.
Background
Purpose: to review the number of genetic testing referrals for breast cancer at the Stratton VA Medical Center and identify barriers that hinder testing, aiming to improve risk reduction strategies and therapeutic options for patients. National guidelines recommend genetic testing for breast cancer susceptibility genes in specific patient populations, such as those under 50, those with a high-risk family history, high-risk pathology, male breast cancer, or Ashkenazi Jewish ancestry. Despite efforts to adhere to these guidelines, several barriers persist that limit testing rates among eligible patients.
Methods
The medical oncology team selected breast cancer as the focus for reviewing adherence to germline genetic testing referrals in the Stratton VA Medical Center. With assistance from cancer registrars, a list of genetics referrals for breast cancer from January to December 2023 was compiled. Descriptive analysis was conducted to assess referral rates, evaluation visit completion rates, genetic testing outcomes, and reasons for non-completion of genetic testing.
Results
During the study period, 32 patients were referred for germline genetic testing for breast cancer. Of these, 26 (81%) completed the evaluation visit, and 11 (34%) underwent genetic testing. Of these, 7 patients had noteworthy results, and 2 patients (6%) were found to carry pathogenic variants: BRCA2 and CDH1. Reasons for non-completion included perceived irrelevance without biological children, need for additional time to consider testing, fear of exacerbating self-harm thoughts, and fear of losing service connection. Additionally, 2 patients did not meet the guidelines for testing per genetic counselor.
Conclusions
This project marks the initial step in identifying barriers to germline genetic testing for breast cancer based on an extensive review of patients diagnosed and treated at a single VA site. Despite the removal of the service connection clause from the consent form, some veterans still declined testing due to fear of losing their service connection. The findings emphasize the importance of educating providers on counseling techniques and education of veterans to enhance risk reduction strategies and patient care. Further research is essential to quantify the real-world outcomes and longterm impacts of improving genetic counseling rates on patient management and outcomes.
A Rare Case of Leptomeningeal Carcinomatosis From Gastroesophageal Adenocarcinoma Masquerading as Polyneuropathy
INTRODUCTION
Leptomeningeal metastasis (LM) is an extremely rare complication of gastroesophageal (GE) cancer. Diagnosis is challenging due to frequently nonspecific clinical presentations, limited sensitivity of diagnostic testing, and potential overlap with neurologic immune-related adverse events (irAE). We describe a case of metastatic gastroesophageal cancer on immunotherapy presenting with LM masquerading as polyneuropathy.
CASE REPORT
A 74-year-old male with HER2+ GE junction cancer with peritoneal metastases diagnosed 6 months ago, on maintenance trastuzumab/pembrolizumab and with no previous history of cranial or spinal disease, presented with worsening ataxia, headache, and diplopia for one month with multiple negative outpatient MRIs. Examination showed left abducens nerve palsy, dysmetria and absent deep tendon reflexes in upper and lower extremities. CT head was unremarkable, and MRI showed non-specific mild enhancement of the right optic nerve, symmetrical lumbosacral nerve roots and cauda equina concerning for paraneoplastic versus immunotherapy-related polyneuropathy. He was started on empiric high-dose corticosteroids. PET-CT was negative for FDG-avid lesions. Cerebrospinal fluid (CSF) analysis revealed moderate pleocytosis with many large atypical cells, elevated protein (118 mg/dL) and LDH (28 IU/L). Immunohistochemistry was positive for CDX2, CA 19-9, CK7, and pankeratin, consistent with metastatic adenocarcinoma, negative for HER2 in contrast to the original tumor. He subsequently developed hydrocephalus requiring a ventriculoperitoneal shunt. He received ten fractions of whole brain irradiation before electing to pursue hospice care.
DISCUSSION
LM is an extremely rare complication of GE cancer with an incidence of <0.2% and carries a poor prognosis. Differentiation between LM and irAE in patients on immunotherapy can be challenging. Diagnosis relies mostly on CSF cytology, and lumbar puncture should not be delayed in patients with new neurologic symptoms. Treatment options are intrathecal chemotherapy, radiation and steroids. A recent phase II trial has shown promise for intrathecal trastuzumab in patients with HER2+ cancers, but options for HER2 negative disease remain mostly palliative.
CONCLUSIONS
Our case highlights the need for suspecting this rare metastatic site, as early diagnosis and genetic characterization allow for exploring more treatment options including targeted therapies which may improve overall survival and quality of life.
INTRODUCTION
Leptomeningeal metastasis (LM) is an extremely rare complication of gastroesophageal (GE) cancer. Diagnosis is challenging due to frequently nonspecific clinical presentations, limited sensitivity of diagnostic testing, and potential overlap with neurologic immune-related adverse events (irAE). We describe a case of metastatic gastroesophageal cancer on immunotherapy presenting with LM masquerading as polyneuropathy.
CASE REPORT
A 74-year-old male with HER2+ GE junction cancer with peritoneal metastases diagnosed 6 months ago, on maintenance trastuzumab/pembrolizumab and with no previous history of cranial or spinal disease, presented with worsening ataxia, headache, and diplopia for one month with multiple negative outpatient MRIs. Examination showed left abducens nerve palsy, dysmetria and absent deep tendon reflexes in upper and lower extremities. CT head was unremarkable, and MRI showed non-specific mild enhancement of the right optic nerve, symmetrical lumbosacral nerve roots and cauda equina concerning for paraneoplastic versus immunotherapy-related polyneuropathy. He was started on empiric high-dose corticosteroids. PET-CT was negative for FDG-avid lesions. Cerebrospinal fluid (CSF) analysis revealed moderate pleocytosis with many large atypical cells, elevated protein (118 mg/dL) and LDH (28 IU/L). Immunohistochemistry was positive for CDX2, CA 19-9, CK7, and pankeratin, consistent with metastatic adenocarcinoma, negative for HER2 in contrast to the original tumor. He subsequently developed hydrocephalus requiring a ventriculoperitoneal shunt. He received ten fractions of whole brain irradiation before electing to pursue hospice care.
DISCUSSION
LM is an extremely rare complication of GE cancer with an incidence of <0.2% and carries a poor prognosis. Differentiation between LM and irAE in patients on immunotherapy can be challenging. Diagnosis relies mostly on CSF cytology, and lumbar puncture should not be delayed in patients with new neurologic symptoms. Treatment options are intrathecal chemotherapy, radiation and steroids. A recent phase II trial has shown promise for intrathecal trastuzumab in patients with HER2+ cancers, but options for HER2 negative disease remain mostly palliative.
CONCLUSIONS
Our case highlights the need for suspecting this rare metastatic site, as early diagnosis and genetic characterization allow for exploring more treatment options including targeted therapies which may improve overall survival and quality of life.
INTRODUCTION
Leptomeningeal metastasis (LM) is an extremely rare complication of gastroesophageal (GE) cancer. Diagnosis is challenging due to frequently nonspecific clinical presentations, limited sensitivity of diagnostic testing, and potential overlap with neurologic immune-related adverse events (irAE). We describe a case of metastatic gastroesophageal cancer on immunotherapy presenting with LM masquerading as polyneuropathy.
CASE REPORT
A 74-year-old male with HER2+ GE junction cancer with peritoneal metastases diagnosed 6 months ago, on maintenance trastuzumab/pembrolizumab and with no previous history of cranial or spinal disease, presented with worsening ataxia, headache, and diplopia for one month with multiple negative outpatient MRIs. Examination showed left abducens nerve palsy, dysmetria and absent deep tendon reflexes in upper and lower extremities. CT head was unremarkable, and MRI showed non-specific mild enhancement of the right optic nerve, symmetrical lumbosacral nerve roots and cauda equina concerning for paraneoplastic versus immunotherapy-related polyneuropathy. He was started on empiric high-dose corticosteroids. PET-CT was negative for FDG-avid lesions. Cerebrospinal fluid (CSF) analysis revealed moderate pleocytosis with many large atypical cells, elevated protein (118 mg/dL) and LDH (28 IU/L). Immunohistochemistry was positive for CDX2, CA 19-9, CK7, and pankeratin, consistent with metastatic adenocarcinoma, negative for HER2 in contrast to the original tumor. He subsequently developed hydrocephalus requiring a ventriculoperitoneal shunt. He received ten fractions of whole brain irradiation before electing to pursue hospice care.
DISCUSSION
LM is an extremely rare complication of GE cancer with an incidence of <0.2% and carries a poor prognosis. Differentiation between LM and irAE in patients on immunotherapy can be challenging. Diagnosis relies mostly on CSF cytology, and lumbar puncture should not be delayed in patients with new neurologic symptoms. Treatment options are intrathecal chemotherapy, radiation and steroids. A recent phase II trial has shown promise for intrathecal trastuzumab in patients with HER2+ cancers, but options for HER2 negative disease remain mostly palliative.
CONCLUSIONS
Our case highlights the need for suspecting this rare metastatic site, as early diagnosis and genetic characterization allow for exploring more treatment options including targeted therapies which may improve overall survival and quality of life.