For Ellie and Jeremy Forman, getting married involved much more than walking down the aisle in fancy garb and saying their "I do's" in front of family and friends this past July.
Jeremy, 34, an entrepreneur, and Ellie, 29, a community relations manager for Mesirow Financial in the
"Jeremy and I come from mixed Jewish backgrounds — both Ashkenazi and Sephardic," Ellie Forman said. "My mother's parents are from Spanish and Greek descent, and Jeremy's mother was adopted as an infant, so we don't know a lot about his background on her side."
They did know, however, that Jeremy's blood tests at birth showed he is a carrier for beta thalassemia, a
"Given that I'm half-Greek and he is a carrier for this Greek disease," she said, "we knew that genetic testing would be very important."
For years, many pregnant Ashkenazi women have been screened for a battery of genetic diseases, including Tay-Sachs, which invariably leads to extreme disability and early death. Now, more Jewish couples are undergoing screening before starting families.
The Formans underwent testing through the Center for Jewish
The center sponsors genetic counseling for couples — typically between ages 25 and 40 — who are tested at synagogues throughout the city and suburbs, either before or after they get married. Most are Ashkenazi Jews, who descend from Central or Eastern Europe, because many of the
"When we started in 1999, you were only tested for four medical conditions, and now, we're testing for 18 because of advancements in genetics and technology," said Karen Litwack, director of the Center for Jewish Genetics.
In 2012, the center tested 250 people, and in 2013 it expects to double that number thanks to a significant donation from a private foundation," Litwack said.
The 18 disorders that the center screens for are autosomal recessive, meaning both parents must be carriers for a child to be affected, and include Canavan disease,
The Formans tested negative for those disorders. But based on their medical histories, they were also screened for beta thalassemia and factor XI deficiency, Ellie Forman said. They found out they were both carriers of factor XI deficiency, otherwise known as
"I'm glad to have this information because it allows us to go into child rearing with a lot of confidence," she said.
In addition to genetic screening for couples, the Center for Jewish Genetics offers an up-to-date list of genetic counselors in the Chicago area who offer testing for genetic disorders and hereditary cancers, such as BRCA gene mutations, whose carriers are at higher risk of developing breast and
The BRCA gene mutations increase a woman's risk of developing
"However, among Ashkenazi Jewish individuals, 1 in 40 people carry a BRCA mutation, making it over 10 times more prevalent in the Jewish population," Weissman said.
Ashkenazi Jewish women with a first- or second-degree relative with breast or ovarian cancer may be at an increased risk for carrying a BRCA gene mutation and should seek genetic counseling, said Weissman, who helps patients draw a medical history of their family.
"Exploring an individual's family history can help people determine what their risk is so they feel empowered about their health," Weissman said.