C ounsyl, a genetic testing company based in Redwood City, California, is now marketing a test that screens for 100 genetic disorders to both consumers and physicians. At a cost of $349 per test, it is already cheaper than some tests that screen for far fewer disorders. Both Counsyl and test enthusiasts say the assay ushers in a new era of consumer-friendly genetic testing and increased demand for services from geneticists and genetic counselors, but others worry that the company's promotion of the test is misleading and preys upon prospective parents' fears.
Counsyl launched the "Universal Genetic Test" in February, just as the film Extraordinary Measures-which portrays a family affected by Pompe disease-opened in theaters. Counsyl's test detects genetic variants responsible for this disorder as well as cystic fibrosis, Tay-Sachs, sickle cell disease, spinal muscular atrophy (SMA), and many more.
For the test, consumers collect saliva samples at home and send them to Counsyl, which processes the samples in a Clinical Laboratory Improvement Amendments-certified lab. Within 3 weeks, the company provides an online report of carrier status. Consumers who want more explanation regarding results can talk to the company's genetic counselors, but the counselors only handle questions requiring quick responses, says Balaji S. Srinivasan, President of Counsyl. If a consumer wants more information, the company can refer him or her to one of its more than 100 partners-mostly fertility clinics-around the country.
Counsyl's Universal Genetic Test costs $349 and can be taken at home.