Genetic Screening Offered to Students of Ashkenazi Descent

On August 28, 2012, the Program for Jewish Genetic Health of Yeshiva University and Einstein offered a screening for Ashkenazi Jewish genetic diseases to Einstein and Ferkauf students who are of Ashkenazi descent.  The students were screened for each of the 18 known Jewish genetic diseases, since they are at greater risk than other ethnic groups for carrying these diseases, with 1 in 3 Ashkenazim being a potential carrier for at least one Jewish genetic disease.

"Carriers will only know of their status after a screening, or if they have a child who is affected with the disease," explained Tirtza Spiegel, a second-year student who is president of the medical genetics interest group at Einstein. "It’s important to educate the community about the availability of these tests."

Indeed, with the introduction of community screening programs in the 1970s and private testing at physician’s offices, Tay-Sachs disease – a deadly disease of the nervous system for which approximately 1 in 27 Ashkenazim is a carrier  –  has been nearly eradicated in the Ashkenazi Jewish population.

"We’re pleased to be able to offer carrier screening to students in our community," said Dr. Susan Klugman, the program’s medical director and associate professor of obstetrics & gynecology and women’s health. "It’s important because there are so many autosomal recessive conditions that have mutations solely in the Ashkenazi Jewish population."

During the event, which took place in the Max & Sadie Friedman Lounge, students’ blood samples were drawn; they will be analyzed at accredited laboratories for genetic mutations and enzyme levels associated with carrier status. Each student was screened for 18 diseases that are common in the Ashkenazi Jewish population, plus spinal muscular atrophy, which has a high carrier frequency in all ethnic groups. In addition, women were offered screening for fragile X syndrome, a mental retardation syndrome that is passed from women to their sons. 

"Those with positive results will be encouraged to share their results with direct relatives, since those with a mutation have a higher chance of being a carrier than those in the general population," noted Estie Rose, a genetic counselor for the program. "And if both members of a couple are found to be carriers for the same disease, counseling will be offered to discuss the possible options for family planning."

The YU Program for Jewish Genetic Health was established last year, with the goal that nobody in the Jewish community facing a genetic health issue be deprived of proper care due to lack of awareness, financial barriers or difficulty in navigating the healthcare system. The student screenings, which were subsidized by Michael Stoler and the Foundation for Medical Evaluation and Early Detection, also represent an attempt to develop a centralized resource for the Jewish community, to address Jewish genetic health concerns and offer support and solutions. For more information about the program, visit YU Program for Jewish Genetic Health.

Dr. Susan Klugman, medical director of the YU Program for Jewish Genetic Health
Dr. Susan Klugman, medical director of the YU Program for Jewish Genetic Health
Second-year medical student Tirtza Spiegel, president of the medical genetics interest group, records test application information
Second-year medical student Tirtza Spiegel, president of the medical genetics interest group, records test application information
The tell-tale test
The tell-tale test
 

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