J-Screen helps couples have healthy babies | Wisconsin Jewish Chronicle

J-Screen helps couples have healthy babies

Rachel Rosenfeld and her husband Brad Goldstein first learned about JScreen at a Moishe House event that was sponsored by the Jewish genetic screening organization. 

When it came time for them to consider having children, the Madison couple decided to find out if they were carriers of any genetic diseases common in Jewish communities. They turned to JScreen, a national online service that is based at Emory University School of Medicine in Atlanta. 

The nine-year-old nonprofit organization is designed to help couples have healthy babies. “There are abnormalities that are common in the Jewish and other populations,” said Karen Grinzaid, executive director of JScreen and assistant professor of human genetics at Emory University School of Medicine. “We screen for over 200 different genetic diseases that could impact a couple’s future children,” she said. 

After mailing in a simple saliva test, Rosenfeld learned she had an abnormality in her blood clotting properties, which is relatively common in the Ashkenazi Jewish population.  

The news of the abnormality brought a hematologist on board her obstetric care team. The couple decided to take extra precautions in the delivery by inducing labor for a more controlled environment, said Goldstein, who is an employment attorney.  

In August 2020, Izzy, a healthy baby boy was born. 

“There’s a lot of good information you can find out before you decide to have a child,” said Rosenfeld, who is a doctoral student in sociology at University of Wisconsin. “It is helpful connecting the dots and just being meticulous in terms of connecting family histories. We highly recommend it and we’re big advocates for it.” 

Grinzaid said that many people think that because there’s no history of these diseases in the family, they don’t need to worry about it. “This is, of course, not true. These things stay hidden and seem to show up out of nowhere, although there have been carriers in the family all along.” 

Tay-Sachs is one of the genetic diseases commonly found in the Jewish population as well as in other ethnic groups. One in 30 Ashkenazi Jews are carriers of Tay-Sachs and one in 300 people in the general population are carriers. 

Couples who are both carriers have a 25 percent chance of having a baby with Tay-Sachs. The infant usually develops normally for the first few months, but as the disease advances there is progressive neurological damage. Children with Tay-Sachs often die before the age of five. 

For couples who are at risk, there are options to help them. They may decide to pursue in vitro fertilization and screen the embryos for that particular genetic disease prior to implantation, Grinzaid said. They would use unaffected embryos for the pregnancy. 

JScreen’s genetic screening and counseling are accessible and affordable at $149, according to the organization. Financial assistance is available. 

Genetics counselors review the results with those screened and discuss next steps they can take with their local health care provider, Grinzaid said. “We have an entire team of medical geneticists who are helping us with the program.” 

“We want to make sure that people have access to comprehensive, accurate carrier screening and they’re accessing it prior to pregnancy,” Grinzaid said. “I think a lot of people don’t realize they’re afraid of the information. But they also don’t realize there are more options available to them for family planning.” 

Two years ago, JScreen launched a separate test for hereditary cancer risk. The cost is $199. “Also in the Jewish community there’s a high risk of mutations in the BRCA genes, which increases risks for not only breast and ovarian cancer but also prostate, pancreatic cancer and melanoma,” Grinzaid said. “With this knowledge, there are things that you can do to help prevent cancer or detect it in an early treatable stage. 

“This kind of information is important for other family members who are at risk as well,” she said. 

JScreen is funded by several family foundations, individual donors, disease and cancer support organizations as well as pharmaceutical companies. 

“Our mission is to help the Jewish community ensure the health of this generation and future generations by making this kind of testing accessible,” Grinzaid said. 

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Jewish ancestry can raise health issues when having children, and J-Screen reports it can help, including help for one local couple. For more information, visit JScreen.org. 

MEDICINE IN AMERICA 2023: This story is part of our occasional series on healthcare today.