Imagine you were diagnosed, seemingly out of the blue, with hypertrophic cardiomyopathy, a condition that is caused by mutations in genes involved in the heart’s muscle cells and is the most common cause of sudden death in young people. If given the chance, would you have your entire genome analyzed to understand more about your genetics and the condition? That's the decision Julie Prillinger faced and, in the end, she embraced the opportunity to untangle the mystery of her DNA. "This is the right thing to do for our family - and our friends and family have been very supportive,” she said in a Stanford Medicine News story.
As described in the piece, Prillinger's genome was among the first to be sequenced through a pilot program of the new Clinical Genomics Service at Stanford Hospital & Clinics. The pilot phase of the service is limited to specific patient groups, including: children with mystery diseases, patients with unexplained hereditary cancer risk, patients with inherited cardiovascular or neurological disease and those with severe, unexplained drug reactions. More details about the service from the article:
Stanford’s service will apply a highly integrated approach that includes professional genetic counseling, the most advanced genome sequencing technology available, and expert interpretation by molecular genetic pathologists and other physicians with expertise in this emerging and complex field.
The new service will be tied closely to other diagnostic genetic testing programs currently offered at the two hospitals. Those programs, which include molecular genetic pathology, cytogenetics and clinical biochemical genetics, have an outstanding record of compliance with the extensive regulatory requirements for diagnostic genetic testing.
In addition to providing Prillinger and her family with crucial information about their personal health, the results could reveal undiscovered information related to the condition encoded in the human genome, which may enable the expansion of current tests.
Previously: Using genetic testing to enhance students’ knowledge of personalized medicine, Ask Stanford Med: Genetics chair answers your questions on genomics and personalized medicine and Direct-to-consumer genetic testing: A commentary