The Truth on Online Gene Testing.
A 29-year-old radiology resident at Baylor University Medical Center, Dr. Joshua Clayton sent in a sample of his saliva to 23andMe in hopes of learning more about his ancestry. 23andMe is one genetics testing company out of many where people can send in DNA samples and get quick results for a decent price. However, many physicians are arguing that is may be doing more harm than good. After Dr. Clayton’s results came back ordinary, he sent the same sample of DNA to a separate genetics testing company called Promethease which advertises to do a more in-depth analysis. The results of the analysis came back positive for Lynch syndrome, a genetic disorder that can lead to deadly cancers at an early age. Frightened by this, Dr. Clayton reached out to a company with expertise in medical diagnostics and found that the results from Promethease were actually a false positive. Although he knew false positives were common in these genetic testings, many consumers do not understand how debatable their results may be. In a small study performed by Ambry Genetics, it was found that 40% of the results from these companies were erroneous. These testing companies do state that their results are not intended for medical purposes yet this can be very confusing when the consumer is expecting to have accurate results.
Personally, I do not see the harm in participating in these genetic testing activities, however, one should never rely solely on the validity of the results. If there is a chance a mutation is hereditary than one should be examined by a certified clinical laboratory. Possibly having a genetic disorder is worrisome enough so why take the chance of being misdiagnosed.