Until recently, genetic tests only scanned small parts of someone’s DNA, such as the parts carrying genes that can cause Huntington’s or Alzheimer’s or breast cancer. Whole genome sequencing spells out the entire genetic code — all 3 billion letters. It’s far from clear how often it will yield truly definitive, useful information. Vague results will send patients down long, frightening dead ends filled with lots of tests and useless treatments that themselves could be dangerous and expensive. “A huge question in front of the genetics community right now is: If you do sequencing for one purpose, what is your obligation to look and to report on findings elsewhere in the genome?” says Robert Green, an associate professor of medicine at Harvard Medical School.
While the experts try to sort all that out, whole genome sequencing is helping to save lives, and providing more patients with answers they’ve been seeking — often for years. Full story at NPR