R. Rodney Howell, MD

Newborn screening has long been considered one of the most successful public health programs in the United States. The Centers for Disease Control and Prevention has recognized improvements in newborn screening technology and the endorsement of the uniform newborn screening panel, which has led to life-saving treatments and interventions, as one of its Ten Great Public Health Achievements in the United States from 2001 to 2010. New technologies for the detection of serious congenital conditions, coupled with better available treatments, have facilitated a rapid expansion of the conditions included in state newborn screening programs. For this public health program to work properly, the primary care pediatrician and the medical home must be an integral part of the system.

In 2005, the American Academy of Pediatrics (AAP) endorsed a Health Resources and Services Administration–funded report from the American College of Medical Genetics (ACMG). The report recommended that all states screen for the 29 serious, treatable conditions on its core panel, and report on an additional 25 conditions detected during the course of identifying the core conditions (Genet. Med. 2006;8[suppl. 1]:1S-252). The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children later adopted this report and recommended the addition of severe combined immune deficiency (SCID) and cyanotic congenital heart disease to the core panel. Following the adoption of this report, the secretary of HHS recommended the panel of these conditions as the national standard in newborn screening.

Virtually all of the conditions on the newborn screening panel are either rare, or very rare. Beyond congenital hypothyroidism and congenital hearing loss, even the well-trained general pediatrician will not know most conditions screened. This means that the confirmatory testing, and usually the treatment plan will need to be developed in conjunction with a highly-trained specialist, usually in genetic-metabolic diseases, pulmonology, hematology, immunology, cardiology, or audiology. However, it is critical that the primary care pediatrician remain centrally involved in the diagnosis and follow-up of these children.

The majority of mothers first learn about newborn screening after they give birth in the hospital – a very busy time, and one not well-suited to education. It is vital that information about newborn screening be a part of the education pediatricians provide to expectant mothers. Pediatricians should stress that these are indeed "screening" tests and that follow-up tests may be required if the original screening tests are out of range. Most states (in addition to federal and private agencies such as Save Babies Through Screening Foundation) have excellent educational materials available for the general physician.

Pediatricians also should educate families on the great value in states securely retaining the dried blood spots that remain following the newborn screening process. Dried blood spots from the state’s repositories have led to the diagnosis in children with unexplained deaths and provide other valuable uses for the child and their families. The dried blood spots and their potential future value to the patient, the family, and the laboratories for quality assurance and the development of new tests should be emphasized.

The medical home should ensure that all infants in their practice have had newborn screening tests done. Currently, over 4 million babies in the United States are screened each year, but there is always the rare situation when an infant is missed. In addition, with the expansion of newborn screening programs, it is almost guaranteed that the individual pediatrician will one day have a newborn screening test that is out of range. The technologies have improved enormously, so that the false-positive rate has declined dramatically, and this means that out-of-range values must be very carefully followed.

The AAP published an excellent guidance document in 2008, which provides a carefully constructed algorithm for the primary care pediatrician that outlines the responsibilities of the pediatrician and various members of their team. The document also lists resources that provide support for the primary care pediatrician in this effort (Pediatrics 2008;121:192-217). These materials include the web-based action (ACT) sheets maintained by the ACMG. The ACT sheets are excellent, one-page documents that provide pediatricians with a summary of differential diagnoses, descriptions of the conditions and actions to be taken. They also offer guidance for clinical considerations, and a brief list of additional reference materials. Many states use these sheets and supplement them with the materials that all state laboratories have both in the screening laboratory and follow-up sections of state screening programs.

Each year about 12,500 infants are diagnosed with one of these serious but treatable disorders. The treatments, if begun early enough, can prevent profound mental delay that occurs as a result of disorders such as phenylketonuria or even be lifesaving as in the case of SCID. The primary care pediatrician and the medical home can and should continue to play a crucial role in maintaining this essential public health program.

Dr. Howell is professor of pediatrics, and chairman emeritus, at the school of medicine at the University of Miami. Board certified both in pediatrics and in clinical biochemical genetics, Dr. Howell has long been active in the diagnosis and treatment of inherited metabolic disease. He was the founding chair of the congressionally mandated Advisory Committee on Heritable Diseases in Newborns and Children, established to advise the Secretary of Health and Human Services about genetic testing in children, with particular emphasis on newborn screening. Dr. Howell is chairman of the board of the Muscular Dystrophy Association. He said he had no relevant financial disclosures.

Newborn screening has long been considered one of the most successful public health programs in the United States. The Centers for Disease Control and Prevention has recognized improvements in newborn screening technology and the endorsement of the uniform newborn screening panel, which has led to life-saving treatments and interventions, as one of its Ten Great Public Health Achievements in the United States from 2001 to 2010. New technologies for the detection of serious congenital conditions, coupled with better available treatments, have facilitated a rapid expansion of the conditions included in state newborn screening programs. For this public health program to work properly, the primary care pediatrician and the medical home must be an integral part of the system.

In 2005, the American Academy of Pediatrics (AAP) endorsed a Health Resources and Services Administration–funded report from the American College of Medical Genetics (ACMG). The report recommended that all states screen for the 29 serious, treatable conditions on its core panel, and report on an additional 25 conditions detected during the course of identifying the core conditions (Genet. Med. 2006;8[suppl. 1]:1S-252). The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children later adopted this report and recommended the addition of severe combined immune deficiency (SCID) and cyanotic congenital heart disease to the core panel. Following the adoption of this report, the secretary of HHS recommended the panel of these conditions as the national standard in newborn screening.

Virtually all of the conditions on the newborn screening panel are either rare, or very rare. Beyond congenital hypothyroidism and congenital hearing loss, even the well-trained general pediatrician will not know most conditions screened. This means that the confirmatory testing, and usually the treatment plan will need to be developed in conjunction with a highly-trained specialist, usually in genetic-metabolic diseases, pulmonology, hematology, immunology, cardiology, or audiology. However, it is critical that the primary care pediatrician remain centrally involved in the diagnosis and follow-up of these children.

The majority of mothers first learn about newborn screening after they give birth in the hospital – a very busy time, and one not well-suited to education. It is vital that information about newborn screening be a part of the education pediatricians provide to expectant mothers. Pediatricians should stress that these are indeed "screening" tests and that follow-up tests may be required if the original screening tests are out of range. Most states (in addition to federal and private agencies such as Save Babies Through Screening Foundation) have excellent educational materials available for the general physician.

Pediatricians also should educate families on the great value in states securely retaining the dried blood spots that remain following the newborn screening process. Dried blood spots from the state’s repositories have led to the diagnosis in children with unexplained deaths and provide other valuable uses for the child and their families. The dried blood spots and their potential future value to the patient, the family, and the laboratories for quality assurance and the development of new tests should be emphasized.

The medical home should ensure that all infants in their practice have had newborn screening tests done. Currently, over 4 million babies in the United States are screened each year, but there is always the rare situation when an infant is missed. In addition, with the expansion of newborn screening programs, it is almost guaranteed that the individual pediatrician will one day have a newborn screening test that is out of range. The technologies have improved enormously, so that the false-positive rate has declined dramatically, and this means that out-of-range values must be very carefully followed.

The AAP published an excellent guidance document in 2008, which provides a carefully constructed algorithm for the primary care pediatrician that outlines the responsibilities of the pediatrician and various members of their team. The document also lists resources that provide support for the primary care pediatrician in this effort (Pediatrics 2008;121:192-217). These materials include the web-based action (ACT) sheets maintained by the ACMG. The ACT sheets are excellent, one-page documents that provide pediatricians with a summary of differential diagnoses, descriptions of the conditions and actions to be taken. They also offer guidance for clinical considerations, and a brief list of additional reference materials. Many states use these sheets and supplement them with the materials that all state laboratories have both in the screening laboratory and follow-up sections of state screening programs.

Each year about 12,500 infants are diagnosed with one of these serious but treatable disorders. The treatments, if begun early enough, can prevent profound mental delay that occurs as a result of disorders such as phenylketonuria or even be lifesaving as in the case of SCID. The primary care pediatrician and the medical home can and should continue to play a crucial role in maintaining this essential public health program.

Dr. Howell is professor of pediatrics, and chairman emeritus, at the school of medicine at the University of Miami. Board certified both in pediatrics and in clinical biochemical genetics, Dr. Howell has long been active in the diagnosis and treatment of inherited metabolic disease. He was the founding chair of the congressionally mandated Advisory Committee on Heritable Diseases in Newborns and Children, established to advise the Secretary of Health and Human Services about genetic testing in children, with particular emphasis on newborn screening. Dr. Howell is chairman of the board of the Muscular Dystrophy Association. He said he had no relevant financial disclosures.

Newborn screening has long been considered one of the most successful public health programs in the United States. The Centers for Disease Control and Prevention has recognized improvements in newborn screening technology and the endorsement of the uniform newborn screening panel, which has led to life-saving treatments and interventions, as one of its Ten Great Public Health Achievements in the United States from 2001 to 2010. New technologies for the detection of serious congenital conditions, coupled with better available treatments, have facilitated a rapid expansion of the conditions included in state newborn screening programs. For this public health program to work properly, the primary care pediatrician and the medical home must be an integral part of the system.

In 2005, the American Academy of Pediatrics (AAP) endorsed a Health Resources and Services Administration–funded report from the American College of Medical Genetics (ACMG). The report recommended that all states screen for the 29 serious, treatable conditions on its core panel, and report on an additional 25 conditions detected during the course of identifying the core conditions (Genet. Med. 2006;8[suppl. 1]:1S-252). The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children later adopted this report and recommended the addition of severe combined immune deficiency (SCID) and cyanotic congenital heart disease to the core panel. Following the adoption of this report, the secretary of HHS recommended the panel of these conditions as the national standard in newborn screening.

Virtually all of the conditions on the newborn screening panel are either rare, or very rare. Beyond congenital hypothyroidism and congenital hearing loss, even the well-trained general pediatrician will not know most conditions screened. This means that the confirmatory testing, and usually the treatment plan will need to be developed in conjunction with a highly-trained specialist, usually in genetic-metabolic diseases, pulmonology, hematology, immunology, cardiology, or audiology. However, it is critical that the primary care pediatrician remain centrally involved in the diagnosis and follow-up of these children.

The majority of mothers first learn about newborn screening after they give birth in the hospital – a very busy time, and one not well-suited to education. It is vital that information about newborn screening be a part of the education pediatricians provide to expectant mothers. Pediatricians should stress that these are indeed "screening" tests and that follow-up tests may be required if the original screening tests are out of range. Most states (in addition to federal and private agencies such as Save Babies Through Screening Foundation) have excellent educational materials available for the general physician.

Pediatricians also should educate families on the great value in states securely retaining the dried blood spots that remain following the newborn screening process. Dried blood spots from the state’s repositories have led to the diagnosis in children with unexplained deaths and provide other valuable uses for the child and their families. The dried blood spots and their potential future value to the patient, the family, and the laboratories for quality assurance and the development of new tests should be emphasized.

The medical home should ensure that all infants in their practice have had newborn screening tests done. Currently, over 4 million babies in the United States are screened each year, but there is always the rare situation when an infant is missed. In addition, with the expansion of newborn screening programs, it is almost guaranteed that the individual pediatrician will one day have a newborn screening test that is out of range. The technologies have improved enormously, so that the false-positive rate has declined dramatically, and this means that out-of-range values must be very carefully followed.

The AAP published an excellent guidance document in 2008, which provides a carefully constructed algorithm for the primary care pediatrician that outlines the responsibilities of the pediatrician and various members of their team. The document also lists resources that provide support for the primary care pediatrician in this effort (Pediatrics 2008;121:192-217). These materials include the web-based action (ACT) sheets maintained by the ACMG. The ACT sheets are excellent, one-page documents that provide pediatricians with a summary of differential diagnoses, descriptions of the conditions and actions to be taken. They also offer guidance for clinical considerations, and a brief list of additional reference materials. Many states use these sheets and supplement them with the materials that all state laboratories have both in the screening laboratory and follow-up sections of state screening programs.

Each year about 12,500 infants are diagnosed with one of these serious but treatable disorders. The treatments, if begun early enough, can prevent profound mental delay that occurs as a result of disorders such as phenylketonuria or even be lifesaving as in the case of SCID. The primary care pediatrician and the medical home can and should continue to play a crucial role in maintaining this essential public health program.

Dr. Howell is professor of pediatrics, and chairman emeritus, at the school of medicine at the University of Miami. Board certified both in pediatrics and in clinical biochemical genetics, Dr. Howell has long been active in the diagnosis and treatment of inherited metabolic disease. He was the founding chair of the congressionally mandated Advisory Committee on Heritable Diseases in Newborns and Children, established to advise the Secretary of Health and Human Services about genetic testing in children, with particular emphasis on newborn screening. Dr. Howell is chairman of the board of the Muscular Dystrophy Association. He said he had no relevant financial disclosures.