Newswise For the first time, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) spoke with one voice and released a set of recommendations and guidelines on best practices for genetic testing and screening of children. Genetic screening is done more on children than on any other group, with about 4 million newborns screened every year for nearly 40 metabolic and endocrine disorders including phenylketonuria, cystic fibrosis and hypothyroidism, as well as hemoglobinopathies, such as sickle cell disease. Most states have adopted the uniform panel, although some states include a variety of additional conditions. Despite gains in technology and the study of genetics, such guidelines had not been updated by either group in at least a decade. We now have geneticists, pediatricians and ethicists all in consensus about what are the best guidelines for genetic testing and screening of children, said pediatrician Lainie Ross, MD, PhD, Carolyn and Matthew Bucksbaum professor and associate director at the MacLean Center for Clinical Medical Ethics at the University of Chicago. Ross is the lead author of the policy statement, published by AAP, and the companion technical paper, published by the ACMG. The new guidelines were released … Continue reading
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