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Bridging the Gap from N-of-One to N-of-Two

Posted by Anoop Grewal on Mar 17, 2016 10:00:00 AM

When I listened to a series of talks from those running clinical exome labs at the Next Generation Diagnostics Summit last year, one of my takeaways was that the information required to identify the causal variant among multiple candidate variants was sometimes fortuitously discovered. Avni Santani of the Children’s Hospital of Philadelphia spoke about how in one patient’s case, the causative gene was identified by a Google search linking to a Facebook page that had mentioned the gene, several search pages later. It turns out the father of another patient some distance away had posted the gene name likely to underlie his child’s rare disease, asking if anyone could help illuminate what this might mean. These two patients happened to have very similar phenotypes and thus, Santani’s patient turned out to have a more definitive exome interpretation as a consequence.

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Topics: Events & Conferences, genomics, ACMG, Matchmaker exchange, DECIPHER, genotype, phenotype, NGDx, GeneMatcher

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