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Glenn Nichols, surrounded by his hospice team. The author is in yellow.

Genetic Linkage

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

February 22, 2013

Tags: genetic testing, American Academy of Pediatrics, American College of Medical Genetics and Genomics, direct-to-consumer genetic testing

Should kids have genetic tests? It depends. (NHGRI)
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 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 under 2 days 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. (You have to sign in to Medscape; it’s free.)

But wait.

Before we all run out to get our exomes and/or genomes sequenced, (more…)

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