Genetic testing hits the home market

Being an oncologist, I am often asked the question by family members accompanying the patient whether cancer is hereditary and if they should be tested for a predisposition towards it. Even though the answer in most cases is unknown or in the negative, some malignancies do manifest an inherited genetic component and it could be potentially useful to test family members for the presence of known marker genes. So far, such testing is a complicated and expensive process, and even when results show a predisposition towards developing a particular kind of cancer, it is difficult to decide what steps to take. The following report for the Associated Press by Paul Elias provides some interesting alternatives:

An increasing number of online startups are marketing tests that can show predisposition to any number of maladies, from breast cancer to blood clotting. They are exploiting the blizzard of genetic discoveries reported almost daily since scientists published the complete map of all human genes five years ago. The tests are cheap, easy to administer, often just a cotton swab inside the cheek, and the results are available online, cutting out the visit to the doctor’s office.
Plus, the companies note, the test results aren’t usually jotted down on official medical histories, which keeps sensitive information away from insurance companies. “We are empowering patients with knowledge,” said Ryan Phelan, who recently launched the San Francisco-based testing company DNA Direct.The company currently offers genetic testing, a la carte with prices ranging from $199 to $380, for a predisposition to cystic fibrosis, blood clotting, iron overload and a heightened risk for lung and liver diseases. Testing positive can help customers make lifestyle changes to prevent the onset of disease.
This week, in a small but dramatic move validating the popularity of the online approach, DNA Direct will begin offering two popular breast cancer tests created and conducted by Myriad Genetics, the most visible player in the field of “predictive medicine.”
“As often is the case, science is running ahead of public policy,” said Dr. Francis Collins, the head of the National Human Genome Research Institute and leader of the government team that published the human genetic map.

The map was a scientific milestone that has made many of these companies possible. Collins said most patients still need doctors and genetic counselors to help them interpret their test results, services most online companies don’t offer. He said it appears DNA Direct is a cut above most genetic testing companies because it employs doctors and genetic counselors.