In a January 29, 2010 article in the New York Times, Andrew Pollock reports about home kits for genetic testing that are being sold by a new company called Counsyl. The company is reported to say that parents can test for 100 genetic disorders, including spinal muscular atrophy, Pompe's disease, and cystic fibrosis. Having cared for children with all these diseases and suffered with the parents as their children had serious problems, I can understand why parents want to know if they carry a gene that could cause a genetic disorder. However, a home kit is absolutely not the way to find this out. I am greatly concerned that the company started by non-medical Stanford students may create much grief and many unforeseen problems. The article states that these home kits do not have F.D.A. approval.
I was so concerned about these home kits that I e-mailed the world's expert in pediatric neuromuscular disorders. His response was immediate and he said "this is terrifying". The Professor said he has long warned about something like this occurring. It would be a tragedy if a healthy fetus was aborted or parents decided not to have a child because a genetic test was wrong. Every lab can make a mistake. My own internist did a blood panel on me in an accredited lab and the calcium value was reported as extremely high. The doctor said he didn't sleep well that night and immediately called the next morning asking me to repeat the test. It was perfectly normal. I always have a patient's lab test repeated, usually in another lab, when I receive an abnormal lab result. Medicine has become much too complicated to have non-medical people designing home kits that could cause tragic outcomes.