More than 25 percent of Ashkenazi Jews in Pittsburgh are carriers of a genetic mutation for at least one of 19 recessive genetic diseases prevalent among Jews of Eastern European descent.
That was the finding of a community initiative launched in 2010 that, through collaboration with the Victor Center for Jewish Genetic Diseases at Philadelphia’s Einstein Healthcare Network, has performed preconception genetic screening here for more than 500 people between the ages of 18 and 40.
These are serious diseases; many are terminal, while others cause discomfort and pain throughout their victims’ lives. The only way to know for sure whether one is a carrier of any of these diseases is to be screened for those genes or to have a baby who is stricken with disease.
That is why genetic screenings for Jews of childbearing age are crucial, said Kara Levine, a licensed and certified genetic counselor who was one of the speakers last Sunday morning at the communitywide symposium, “I Inherited What?? You and Your Genes: The Explosive New World of Genetics.”
Held at Magee-Womens Hospital of UPMC, the program aimed to develop an appreciation among the Jewish community of the “genetic explosion,” said Dodie Roskies, director of JGenes Pittsburgh and the event’s moderator.
While one who is a carrier of a recessive disease mutation does not show symptoms of the disease herself, if her partner also is a carrier, the couple has a 25 percent risk with each pregnancy of passing on that disease to a child. But once armed with the information as to whether both partners are carriers for a specific Jewish genetic disease, they can then explore ways in which to have a healthy baby, Roskies said. Those options include sperm or egg donation; in vitro fertilization with pre-implantation genetic screening; or adoption.
Genetic screenings are a proven method to arrest the prevalence of diseases passed on by genetics. A push in the 1970s for Jewish couples to be screened for Tay-Sachs disease, for example, has resulted in a 90 percent reduction of cases of that disease.
All individuals of child-bearing age with some Jewish heritage should be screened through a simple blood test for the full panel of Jewish genetic diseases, Levine said, even if only one grandparent was Jewish, as should individuals of unknown ancestry. Interfaith couples should be screened as well.
The best time to screen, said Levine, is before a couple conceives a child, but screening should be updated between pregnancies because the numbers of Jewish genetic diseases on the panel are growing. The current panel of 19 Jewish genetic diseases already has been expanded to 38 in some areas, she noted.
A woman may be screened by her obstetrician/gynecologist, Levine said, and a man may be screened by his primary care physician. Individuals may also be screened at various area hospitals, including Magee, and hospitals in the Allegheny Health Network as well as at community screenings such as those sponsored by JGenes Pittsburgh.
“The cost of testing has come way down,” Levine said, adding that it is covered by most insurance providers, including both Highmark and UPMC, requiring only a prescription from a physician.
The next community screening, for those between the ages of 18 and 40, will be held on March 31 from 2 p.m. to 6 p.m. at the Hillel-Jewish University Center.
Genetic screenings — whether of the parents prior to conception or of the fetus in utero — are critical in ensuring early intervention treatments for children who are afflicted with a debilitating disease, noted Dr. Mark Diamond, a local pediatrician who was in the audience.
“The earlier the diagnosis, the better the treatment,” Diamond explained.
“So, it’s important to do the screening. If we know from day one that a child has a disease, the quality of the care improves.”
Other speakers at Sunday’s symposium included Dr. David Finegold, a professor of pediatrics, medicine and human genetics at the University of Pittsburgh, who spoke of the high risk of breast cancer for those individuals with BRCA1 and BRCA2 genetic mutations as well as the dramatic advances of genomic medicine. Rachel Golden, an education ambassador for Bright Pink — a nonprofit organization focused on the early detection and prevention of breast cancer — emphasized the importance of young women becoming aware of their family health histories as well as their genetic make-up.
“If detected early,” she said, “the five-year survival rate for breast cancer is 92 percent.”
Dr. Harold Wiesenfeld addressed the imperative of ensuring that children obtain the HPV vaccine. The HPV virus — which the vaccine is 100 percent effective in preventing — can cause a variety of cancers, including cervical cancer, anal cancer and penile cancer, he noted. Sue Steele, a program coordinator for the Jewish Healthcare Foundation, spoke of the JHF’s initiative to increase HPV vaccination rates through a communitywide effort, including “utilizing our grandmothers to educate our community.”
Symposium sponsors were Bright Pink, the Jewish Women’s Foundation of Greater Pittsburgh, Ladies Hospital Aid Society, Magee-Womens Hospital of UPMC, National Council of Jewish Women Pittsburgh Section, Jewish Community Center, NA’AMAT USA, Hadassah, Jewish Federation of Greater Pittsburgh Women’s Philanthropy, the Jewish Healthcare Foundation, JGenesPgh and Stern Family Foundation.
Toby Tabachnick can be reached at email@example.com.