For Medical Professionals
Medical professionals, especially OB/GYNs and pediatricians, can play a vital role in promoting timely and accurate carrier screening for individuals of Jewish heritage. The JGDC strongly urges medical professionals to identify patients of Jewish heritage* (at least one grandparent) and interfaith couples in their childbearing years and counsel them about the importance of preconception carrier screening for the Jewish genetic diseases.
The Importance of Preconception Carrier Screening for Patients of Jewish Heritage and Interfaith Couples
Advances in genetic science has led to the identification of mutations linked to genetic diseases more prevalent in persons of Jewish heritage. The JGDC recommends that anyone of Jewish heritage* and interfaith couples, who are planning to start or add to their family, should be screened for the full panel of Jewish genetic diseases. If results indicate a carrier couple, they can be referred to a genetic counselor who can provide them with the reproductive options available to them.
Although carrier screening has become more widely accessible for the Jewish genetic diseases, there still remain dozens of children born every year affected by these devastating diseases. Patients turn to their healthcare professionals as trusted sources of information, therefore the JGDC asks for your help in promoting timely and accurate carrier screening so that every Jewish and interfaith couple are made aware of their carrier status.
*An estimated 90% of American Jews are Ashkenazi, tracing their heritage to Eastern Europe, France or Germany. The remaining 10% are Sephardic linking their heritage to the Mediterranean or Mizrahi tracing their heritage to Persia, Iran or the Middle East. Persons of Sephardic or Mizrahi background should be referred to a genetic counselor, as carrier screening is dependent on their country of origin, unlike Ashkenazi disease, where there is a more standard panel.
The JGDC has presented our Grand Rounds program to hospitals throughout the country. If you would like us to bring this program to your hospital, please contact the JGDC by emailing us at info@JewishGeneticDiseases.org or calling us at 855-642-6900.
The Role of the Healthcare Professional: Questions to Ask
Patients turn to their healthcare professionals as trusted sources of information. They expect to be told if they are in a particular risk group or if a particular test is right for them.
We would ask that you bring up the following questions with patients in their childbearing years. This advice is consistent with recommendations from the ACMG and ACOG in terms of patients from specific ethnic groups in which genetic diseases are at issue, although our updated disease lists are more comprehensive than their recommendations.
Individuals of Mixed Heritage
Given the rates of intermarriage among the American Jewish population, patients with mixed heritage may not consider themselves at risk for Jewish genetic diseases. For genetics purposes, a patient with even one grandparent of Jewish heritage is considered a candidate for carrier screening.
Couples of Mixed Heritage
In the case of a couple in which one member is born Jewish and the other is not, the general recommendation is to screen the Jewish partner first. If he or she is found to be a carrier, a genetic counselor can help the couple understand the screening options for the non-Jewish partner.
Screening when Donor Sperm or Egg is Utilized
In terms of a couple (mixed sex or same sex) or a single woman using donor sperm or eggs, it is important that any person who is providing either egg or sperm, who is of Jewish heritage, be screened for Jewish genetic diseases, whether parent or donor.