New Guidelines on Testing Kids’ DNA–the Cliff’s Notes Version

By Ricki Lewis | February 21, 2013 |

Exomes are big news. Sequencing of the protein-encoding part of the genome is increasingly solving medical mysteries in children. It began with Nicholas Volker and his recovery from a devastating gastrointestinal disease with a stem cell transplant once his exome sequence revealed his problem.
And my recent Medscape assignments reveal the trend: 7 of 12 kids’ exomes leading to diagnosis at Duke University (from May 10, 2012); whole genomes of 5 infants from the neonatal intensive care unit at Children’s Mercy Hospital and Clinics in Kansas City, Missouri (from October 3), in just 50 hours each, focusing on 600 single-gene diseases; and 300 patients at the Whole Genome Laboratory at the Baylor College of Medicine, with 300 more waiting — 85% of them kids (from November 9, 2012).
But wait.

Before we all run out to get our exomes and/or genomes sequenced, it might be a good idea to slow down and look at how to handle existing, single-gene tests – especially in children. A policy statement issued from the American College of Medical Genetics and Genomics (ACMG) and the American Academy of Pediatrics (AAP) does just that, providing guidelines for health care providers while also succinctly and eloquently summarizing many genetic testing scenarios – some I hadn’t thought of, and I’ve been writing about genetic testing in my human genetics textbook since 1994, a heady time when the genes behind Mendelian disorders were revealing themselves at a fast pace as the genome project got underway.
You’ll have to read the ACMG and AAP papers for the compelling arguments, but here’s a Cliff’s Notes version of the recommendations.

SCENARIO: A child has symptoms of a known genetic disease.
ACMG/AAP: YES. It’s part of a normal diagnostic work-up.