The DeKalb County couple recently underwent screening at the Marcus Jewish Community Center of Atlanta to see whether they carry the gene mutations that can lead to one or more of 19 diseases that as a group have a 1-in-4 carrier rate in the Ashkenazi Jewish community such as Tay-Sachs disease, cystic fibrosis and Canavan disease.
“We knew it was an important thing for us to do before trying to get pregnant,” said Robinson, a pre-school teacher who has been married since August 2007. “It’s become almost cultural. It’s something that’s talked about a lot.”
Both Robinson and her husband took blood tests for the screenings. They’re waiting for the results.
Genetic testing has been in the news lately since actress Angelina Jolie had a double mastectomy to reduce her inherited risk of breast cancer. But actually, genetic testing for other diseases has been around for decades.
And it may get easier for some groups.
Emory University’s department of human genetics recently received a two-year grant from the Marcus Foundation and other funders to launch an innovative, at-home screening program for aspiring Jewish parents. The program, called JScreen, will make screening for the 19 diseases convenient and affordable, said Karen Grinzaid, an instructor, senior genetic counselor and co-director of Emory’s Gene Screen program.
JScreen is expected to start in September, the same week as the Jewish observance of Rosh Hashanah. Brochures about the program will be distributed at local synagogues to encourage screening.
Initially, the program will be conducted in Georgia, five other states and the District of Columbia.
“Currently people are screened either through community screening, doctor’s offices or genetics centers,” Grinzaid said. “We know from market research that approximately 40 percent of people don’t even know the screening is available and (are) obviously not accessing (it). Our goal is to reach those people who are not hearing about screenings through traditional venues.”
The program will allow people to access information online. Then, if screening, using a mailed saliva test, determines that someone is a carrier, genetic counseling will be made available over the phone or through referrals.
Knowing whether you are a carrier could affect a couple’s reproductive decision or help with family planning.
Randy and Caroline Gold, founders of the Georgia-based Jewish Gene Screen, know the benefits and risks firsthand. The Golds’ work is the inspiration for the new program.
Before having children, Randy Gold was tested for two of the diseases and Caroline was tested for eight. Neither of them carried the same genetic mutation. Their first child was a healthy baby boy. Two years later, they had a second child and quickly realized something was wrong.
Their daughter, Eden, was not meeting developmental milestones. After numerous tests, Eden was diagnosed in August 2009 with Mucolipidosis Type IV, or ML4 disease, a genetic disease that affects development, causes retinal degeneration and limits life span. Doctors said Eden would never learn to walk or talk and have a maximum mental capacity of an 18-month-old.
“It was obviously the worst day of our lives,” Randy Gold said. “It took a couple of months to get our bearings back and to figure out what the rest of our lives were going to mean. We realized that we had a responsibility, and that responsibility was to make sure that Eden’s story didn’t happen to another family. We realized there was a real lack of information in the medical community and rabbinic community.” For instance, he said their rabbi never mentioned Jewish genetic disease screening before they were married.
Eden, 5, has made progress. She has developed her own way to communicate, receives therapy two hours a day and is learning to crawl.
The Golds have had a third child, who is healthy. They went through pre-implantation genetic diagnosis, which identifies genetic abnormalities in embryos created through in-vitro fertilization. The healthy ones can then be implanted in the womb.
“Science is moving forward so fast, and they’re identifying new diseases and creating screening for them,” Randy Gold said. The new program at Emory, he said, “is going to change the entire world of Jewish genetic diseases.”
Nancy Citrin, project coordinator of the Victor Center in Atlanta, estimates that more than 27,000 people in metro Atlanta between the ages of 18 and 40 could be targeted for screening, which is covered by most insurance policies.
But she said her organization, which participated in the community screenings at the MJCCA, has only reached a small number in that targeted group. Even if both members of a couple have the same genetic mutation, it doesn’t mean they will have an affected child. There is a 25 percent chance with each pregnancy, she said. Citrin said there are some people “who are frightened to know their status. And then there are those who are engaged or seeking to have a family in the future who definitely want to know. They usually become our biggest advocates.”
The information can help couples decide whether to have children, adopt, use an egg or sperm donor, or do pre-implantation genetic diagnosis, which is costly.
“We want to make the most educated decision that we can,” Robinson said. “It’s just peace of mind. It’s one less thing you have to worry about when you’re pregnant.”