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Prospective parents can now be screened for more than 200 genetic diseases

On the heels of March 2017 recommendations by the American College of Obstetricians and Gynecologists (ACOG) that encourage physicians to discuss expanded carrier screening with their patients, JScreen increased its testing panel from 100 to more than 200 disease genes that could affect a couple’s future children.

JScreen, which is based at Emory University School of Medicine’s Department of Human Genetics, provides convenient, affordable access to help singles and couples throughout the United States plan for healthy families before pregnancy.

Through a simple, at-home saliva test, JScreen allows prospective parents to find out if they are carriers for severe and often lethal diseases, such as Tay-Sachs, Spinal Muscular Atrophy and Duchenne and Becker Muscular Dystrophy, that could be passed on to their children. Participants register online for screening kits and mail their saliva samples to the lab for testing.

With JScreen, prospective parents have a unique opportunity to access screening at a low cost. JScreen’s test is significantly more comprehensive than other tests that can be ordered online. And, in contrast to other screening programs, JScreen functions under the direction of an MD specializing in genetics, and the cost includes genetic counseling via phone or secure video-conference. Through genetic counseling, couples found to be at increased risk gain an understanding of their risks and available options to help them have healthy children.

“Genetic testing alone is not enough. Counseling is a necessary part of the process. Labs that report results directly to consumers put people at risk for misinterpreting the information they need to make family planning decisions,” says Karen Grinzaid, Emory University Genetics faculty, and JScreen’s Executive Director.

The JScreen test uses state-of-the-art genetic sequencing technology to determine carrier status for diseases common in many ethnic groups and is the national leader in providing easy access to comprehensive genetic testing for people of Ashkenazi, Sephardic and Mizrahi Jewish backgrounds. In addition, JScreen’s test includes genetic diseases common in the general population, making the test applicable to everyone

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