In the keynote presentation of this month’s Bio-IT World Conference and Expo, Dr. Heidi Rehm, Chief Laboratory Director at Partners Healthcare Personalized Medicine, emphasized the need to publicly share genetic variant information to advance patient care. She candidly told the story where her lab at Partners Healthcare reported the result of a genetic test for a fetus at risk for Noonan syndrome as “pathogenic”, only to find out later that there was conflicting evidence and the gene mutation should not be ruled as pathogenic in certain ethnic groups. When she contacted the physician to present the new finding, she was told that the parents had terminated the pregnancy.
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.