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JScreen helps prospective parents determine risk for genetic diseases

Michael Chanin and Amanda Weinberg

When Michael Chanin moved back to Atlanta from Dallas, his great-aunt set him up on a blind date.

"There's a girl who just moved back to town," she said. "You should meet her. She's the granddaughter of one of my friends."

Though Chanin was skeptical of his great-aunt's matchmaking prowess, he agreed to meet Amanda Weinberg who, fresh from New York, agreed to meet him as well. "Our first date was phenomenal," Chanin says. Two years later, they got engaged.

Chanin and Weinberg started pre-marriage counseling at their synagogue with Rabbi Peter Berg. Along with discussing expectations, children, and potential areas of conflict with the couple, Rabbi Berg asked them to "get their JScreen."

A nonprofit public health initiative based at Emory's School of Medicine, JScreen is an at-home genetic screening program that allows individuals and couples to screen for more than 80 hereditary diseases, 19 of which are predominant in the Jewish community.

Rather than predicting an individual's own health risks, JScreen helps prospective parents learn about their risk for passing devastating and sometimes lethal genetic conditions on to their children. In addition, JScreen, which launched last fall, offers education and counseling to help people understand their results, says Karen Grinzaid, an instructor in Emory's Department of Human Genetics and JScreen's senior director of outreach initiatives.

Almost 80% of babies with a genetic disease are born to parents with no known family history. For Ashkenazi Jews like Chanin and Weinberg, the risk for genetic disease is higher than for the general population. Nearly one in four Ashkenazi Jews carries a gene for a serious genetic disease.

According to an Emory survey, an estimated 75% of American Jews of reproductive age have not been tested for genetic disease, and 24% aren't aware they have an elevated risk of having a child with a genetic disease.  

"Many women don't think about screening until they are pregnant, and that is a stressful time to screen and make decisions," says Tricia Page, director of Emory's Genetic Counseling Services and JScreen senior director. "There are two ways to find out if you are a carrier—to screen or to have an affected child. Our goal is preconception screening, which gives people the opportunity to plan."

The first online carrier screening program, JScreen allows people to request kits, learn about hereditary diseases, and speak to genetic counselors. While the program is focused on the Jewish population, those with mixed ancestry or even no Jewish ancestry can also be screened.

"It was easy," Weinberg says. "I filled out my name and insurance on the website and within a couple of weeks there was a package at the door." She did the saliva test and sent the kit back to the lab. Upon getting the results, Weinberg reviewed them with a genetics counselor over a private teleconference. She found that she was a carrier for Fanconi anemia and Niemann-Pick disease. "Jessica was wonderful," Weinberg says of her counselor. "I appreciate the time she took to discuss the diseases and answer my questions. It made the process as painless as possible."

Chanin also was tested, and found he was a carrier for Joubert syndrome. Because Chanin and Weinberg carry recessive genes for different diseases, the probability is that they would not have a problem. "It was a relief," Chanin says. "We can look forward to having kids with the comfort of knowing that we don't have to worry about genetic disease."


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