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Genetic Testing: Get Started at Home


by Jennifer Redmond, Editor-in-Chief, March 4, 2010

At risk populations are routinely tested for recessive diseases -- those passed on when both parents carry the gene -- such as Sickle Cell, Tay-Sachs and Cystic Fibrosis. “Over a decade ago universal Cystic Fibrosis screening began. The presence of cystic fibrosis in carriers is 1 in 25,” according to Steven J. Ory, M.D., fertility specialist at IVF Florida in Margate, FL. And, he adds, new data made available just last week shows that there’s been a reduction in Tay Sachs disease, “an implication that screening efforts are paying off.” Historically, those at risk of passing on a disease would have a blood test in their doctor’s office and meet with a genetic counselor. But new products are bringing genetic testing directly to the consumer. These aren’t “at home” tests – but your home is where the process begins. You order a kit online or purchase it at your physician’s office, send a saliva sample off to a lab, and, either online or through your doctor’s office, you find out whether your future child might be at risk for a genetic disease.

Dr. Ory believes one such product, the Counsyl Universal Genetic Test is an important tool for empowering fertility patients and providing information. And Michael Feinman, M.D., F.A.C.O.G., a fertility specialist at Huntington Reproductive Center in Encino, CA refers to himself as an “enthusiastic supporter” of the test. The fertility centers where both doctors work stock the Counsyl kits for their clinics. They both stressed that they do not have a financial interest in the company – but, rather, an interest in providing the best information to their patients.

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“IVF patients, those who’ve had multiple miscarriages and setbacks trying to conceive, are a very sensitized population seeking as much information to reduce future adverse outcomes,” Ory says. Genetic testing “greatly expands the amount of information we can present to them,” he adds.

Another plus? The tests are much more economical than in-office testing. According to Feinman, “Most insurance companies don’t cover genetic screening unless you’re pregnant.” For some, that’s too little, too late. The panel of tests for the Ashkenazi Jewish patients, who have a higher risk of Tay-Sachs disease, can cost $2,000 to $3,000, says Feinman. It’s $750 to pay out-of-pocket for the spinal muscular atrophy (SMA) test alone, according to Ory. The Counsyl test sells for $349.

The downside? The Counsyl test is not complete – it screens for 100+ disorders, but is not comprehensive. Feinman points out that the product doesn’t test for Huntington’s Disease, for one. The reason being, he says, is that a positive result is devastating. And while Counsyl tests for hemochromatosis, Feinman believes it shouldn’t. “People tend to get positive results and it doesn’t cause clinical illness,” he says. “Get it out of there,” is his advice.

Both doctors agree that results really should be reviewed by a doctor and discussed with a genetic counselor. “If an abnormality is uncovered, you need a more complete understanding of the finding and your treatment options,” Ory says.

If you use the Counsyl test, you have the option of purchasing it online and getting results via the web, or you can purchase it through a doctor’s office and have the results sent directly to your doctor. Both Ory and Feinman say their patients who use Counsyl get results through them.

Feinman refers to these tests as “consumer driven;” he says more patients are aware of these tests than doctors right now. He believes that in a year or two this type of genetic testing will be as common for women as getting a Pap smear.

Finding out whether your child is at risk before you get pregnant is a life saver, says Feinman. Finding out after you’re already pregnant can be devastating.