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Pediatrics. 2013 Dec;132:S198-202. doi: 10.1542/peds.2013-1032C.

Genetic and genomic literacy in pediatric primary care.


Robert A Saul


  1. FAAP, FACMG, Children's Hospital, Greenville Health System, 701 Grove Rd, Greenville, SC 29605. [email protected].

PMID: 24298127 DOI: 10.1542/peds.2013-1032C


A colloquium on genetic literacy in pediatric primary care sponsored by the Health Resources and Services Administration Maternal and Child Health Bureau was held at the American Academy of Pediatrics headquarters on October 2-3, 2012. The overarching goal of the colloquium was to provide context for delivery of genetics-related services in day-to-day pediatric primary care practice, encompassing 3 dimensions of medicine: prevention, diagnosis, and management. Participants considered the whole spectrum of disease, from rare disorders to common disorders, the genetics-related components of which are often overlooked. Specific topics included family history, genomics, genetic literacy and competency, epigenetics, and a focused view of primary care and genetics. A consensus statement was developed to provide recommendations for integration of genetics into pediatric primary care.

Keywords: epigenetics; family history; genetic competency; genetic literacy; genetics; genomics; pediatric primary care; public health

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