By Stephanie Wood
For most parents to be, there's no such thing as "too much information" when it comes to their future children's health and well-being. Whether you're just thinking about getting pregnant or already have a baby on the way, you've no doubt considered the pros and cons of the prenatal tests available that screen for chromosomal abnormalities such as Down Syndrome.
When I had my three children, I chose to only have screenings and not to undergo anything invasive like CVS or amniocentesis because of the risks involved. But now there's a new testing option that I would have seriously considered, and you should too: Jscreen is a saliva-based, at-home genetic testing kit that indicates if you are a carrier for over 80 different genetic disorders.
Developed at Emory University's Department of Human Genetics in Atlanta, the test was originally created for the Jewish population, which is at a higher risk for 40 genetic disorders. Now, however, Jscreen has an expanded panel that screens for over 80 disorders common in the general populations as well, including Cystic Fibrosis, Fragile X syndrome (the most common known cause of autism spectrum disorders), and Sickle Cell Anemia.
Why genetic testing matters
Even if you don't know of any cases of genetic disorders in your or your partner's family, you should still take this seriously. According to Emory University genetic counselor and Jscreen program senior director Karen Grinzaid, 80 percent of babies born with a serious genetic disorder have no family history of that disorder. And if you and your partner both turn out to be carriers of a genetic illness, each of your children will have a 25 percent risk for actually having the disorder. "The vast majority of people will have a perfectly clean genetic history," notes Grinzaid, "so Jscreen is most likely going to provide peace of mind." But if the results do indicate you are carriers, a genetic counselor will help you understand your options, such as using invitro fertilization (IVF) or an egg or sperm donor. Other carriers will decide to take no action at all, but will be prepared in case their child is born with a genetic disorder.
How Jscreen works
Jscreen is covered by most insurance, which means you will not likely have to pay more than the $99 testing kit fee. All results are reviewed by a Jscreen physician or you may choose to have them sent directly to your own doctor. If you or your partner has tested positive for a genetic disease, follow-up counseling is included via phone, videoconferencing, or a local genetic counselor who is part of the Jscreen network. Once you return your saliva samples, you'll receive the results in four weeks or less. Other direct-to-consumer tests on the market have been controversial because they don't provide any guidance about the results, but the medical community has been supportive of Jscreen because of the doctor involvement and follow-up counseling, notes Grinzaid. And your privacy is not at stake—all the results are kept in a secure database that only you can access.
Your First Prenatal Visit and Tests
Image: Colorful DNA strand via Shutterstock