At-home saliva test screens for more than 200 disease genes

JScreen aims to help prospective parents have healthy children

Certain health conditions and risk factors could affect a woman or her unborn baby if she becomes pregnant. For this reason, physicians often advise women to practice good preconception health.

Taking folic acid, achieving a healthy weight, and making sure medical conditions are under control can help boost the odds of having a healthy pregnancy and baby. Now, prospective parents can take their efforts to have a healthy child a step further with the help of genetic testing and counseling.

An at-home saliva test called JScreen (affiliated with Emory University) is letting couples find out if they are carriers diseases that could be passed on to their children, such as Tay-Sachs, Spinal Muscular Atrophy, and Duchenne and Becker Muscular Dystrophy.

Screening and counseling

JScreen says its test -- which uses genetic sequencing technology to determine carrier status for diseases common in many ethnic groups, as well as in the general population -- is “significantly more comprehensive than other tests that can be ordered online.”

The test screens for more than 200 genetic diseases that could affect a couple’s future children. In addition to the saliva test, couples receive genetic counseling via phone or video conference.

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

Understanding the risks

To provide couples with a more complete understanding of their risk of passing on diseases, JScreen recently doubled its screening panel. The saliva test previously only screened for 100 disease genes.

The move comes in the wake of new recommendations by the American College of Obstetricians and Gynecologists (ACOG) that encourage doctors to discuss expanded carrier screenings with their patients.

“If families have information, they have choices,” Grinzaid told the Atlanta Jewish Times“You can have a conversation with your spouse about what you would or would not do if you were to have an affected child." 

"Our goal is to get to people preconception, as much as possible, so they can make decisions on different reproductive options, such as in vitro fertilization or adoption, and maximize their chances of having a healthy family," she concluded.

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