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The Journey of Genetics From Newborn Screening to an Integral Part of Pediatric Primary Care

June 28, 2023

Commentary From the AAP Council on Genetics

The first group created within the American Academy of Pediatrics (AAP) that had a focus on genetics was the Committee on Congenital Malformations, formed in 1961 as an outgrowth of the Committee on Radiation Hazards and Epidemiology of Malformations. Although this committee was short-lived, the development of a new technique for population screening of newborns for phenylketonuria, published in 1963, highlighted the importance of genetic screening in pediatrics.1 Newborn screening infants for metabolic conditions led to the development of a task force whose report, published in November of 1976, clearly stated the need for pediatricians to be informed about genetic screening. 2 It was the opinion of this task force that a standing committee should be established to provide expertise for this new field. Thus, the Committee on Genetics became a permanent standing committee. The subsequent work of the Committee on Genetics and the Section on Genetics and Birth Defects combined in 2016 to form the present Council on Genetics.

The Journey of Genetics From Newborn Screening to an Integral Part of Pediatric Primary Care

Leah W. Burke, MD, FAAP1

Affiliation: 1Chair, AAP Council on Genetics; University of Vermont Larner College of Medicine

Highlighted Articles From Pediatrics

As the field of genetics has changed from chromosome studies to microarrays and now genome sequencing, the recommendations of the committee/council have changed to keep up with these developments. Utilizing genetics to establish an etiology for developmental delay and intellectual disability in children was an important step forward in incorporating genetics in general pediatrics. The first clinical report outlining the Clinical Genetic Evaluation of the Child With Mental Retardation or Developmental Delays was published in 2006.3 At that time, the first order test for a child suspected of having a genetic abnormality was a high-resolution karyotype. If the karyotype was not abnormal, fluorescence in situ hybridization (FISH) testing could be obtained to assay for specific gene regions. Today, the karyotype is rarely done in clinical genetics, and FISH testing is not done at all. Both of these tests have been replaced by more advanced genetic and genomic testing as technology has advanced. A forthcoming revision of this clinical report is in development to address these advancements. In addition, genomic sequencing has become recognized as an important part of the evaluation of a critically ill infant or child in the NICU and PICU.

With the increasing numbers of genetic conditions that are being identified and defined, it became important for the Committee on Genetics to provide clinical guidance for these conditions. One of the first of these clinical reports was for Down syndrome,4 a guidance that has been refined and expanded over the years from a 5-page document in 1994 to the 24 page document published in 2022. The Committee on Genetics has now published more than 15 clinical reports, giving health supervision guidelines for pediatricians who follow children with genetic conditions.

Genetic testing in children, in particular the use of genomic sequencing, raises ethical questions because of the possibility of identifying carrier status or susceptibility to adult onset conditions. The AAP Committee on Bioethics first identified this issue and provided initial recommendations in 2001.5 With the expansion of genomic sequencing, the Committee on Genetics joined the Committee on Bioethics with revised recommendations in 2013.

With the rapidly changing landscape of genetic and genomic testing and treatment of genetic conditions, contributions from the Council on Genetics will provide even more relevant guides to pediatric care in the future.


  1. La Du B, Howell RR, Michael PJ, Sober EK. A quantitative micromethod for the determination of phenylalanine and tyrosine in blood and its application in the diagnosis of phenylketonuria in infants. Pediatrics. 1963;31:39-46
  2. The Task Force on Genetic Screening. The pediatrician and genetic screening (Every pediatrician a geneticist). Pediatrics. 1976;58:757-764
  3. Moeschler JB, Shevell M, Committee on Genetics. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics. 2006;117:2304-2316
  4. Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 1994;93:855-859
  5. Committee on Bioethics. Ethical issues with genetic testing in pediatrics. Pediatrics. 2001;107:1451-1455
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