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The Pediatric Forum
October 2007

A Need for Pediatric Genetics

Arch Pediatr Adolesc Med. 2007;161(10):1010. doi:10.1001/archpedi.161.10.1010-a

In his review of The American Pediatric Society History of Pediatric Subspecialties,1 Nelson mentions genetics as one of those subspecialties “not yet (nor likely to be) graced by an ABP [American Board of Pediatrics] subboard certifying examination . . . [as it is] a very new clinical focus.” He is absolutely correct in these statements and goes on to excerpt some trials and benefits of pediatric subspecialty evolution from editors Finberg and Stiehm.2 I would suggest that the escape of medical genetics from this paradigm of pediatric subspecialty development should be recognized as an unfortunate deviation that damages programs, trainees, and patients. Although most genetic disease presents in childhood (approximately 5 per 100 births with a defect, disability, or metabolic error), academic medical genetics and its governing board are heavily influenced by researchers and low-volume clinicians with minimal pediatric skills. Our certifying examinations require sparse knowledge of development, dysmorphology, or disability care with the result that qualifying faculty extol laboratory techniques at the expense of clinical recognition and anticipatory guidance. Most residents instinctively discern good pediatrician-teachers and thus grow into physicians who are rightfully skeptical about genetics as they are subjected to new obligations (like expanded newborn screening) without ready access to pediatrician geneticists. Nelson1 reviews accurately, but it is rather sad that he and the distinguished book editors do not define an important priority: pediatrics should recapture its portion of genetics and restore the precious and special perspective of child medicine.