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 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 855-632-6900.
OB/GYNs and Pediatricians
OB/GYNs should identify patients with Jewish heritage (even one Jewish grandparent), or interfaith couples, who are planning to start a family, and counsel them about carrier screening for Jewish genetic diseases.
Pediatricians should identify older patients of Jewish heritage, and explain the importance of preconception carrier screening. It is also important to inform parents of Jewish heritage who are still in their childbearing years about carrier screening for Jewish genetic diseases. They may have never been screened before or their screening may not be up to date.
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.
Ask your patients:
Do they have Jewish heritage? Ascertain as far as possible whether it is Ashkenazi (German/Eastern European) or Sephardic/Mizrahi (Mediterranean, Persian or Middle Eastern). Even one grandparent of Jewish heritage is enough to warrant consideration of genetic screening.
Are they considering becoming pregnant?
Do they know of any inherited genetic conditions in their family?
Have they ever been screened for Jewish genetic diseases? If so, do have they access to their screening reports?
Do they understand the reason for preconception carrier screening? Do they know about the reproductive options available to them even if they are both found to be carriers of the same disease?
Do they know that the fetus cannot be screened for Jewish genetic diseases unless the parents have first been screened and the mutations they carry have been identified?
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.
Understanding Jewish Heritage and Identity in the United States
Most persons of Jewish heritage in the United States trace their ancestry to Germany or Eastern Europe (Ashkenazi), the Mediterranean (Sephardic) or Iran/Persia and the Middle East (Mizrahi). In order to understand which diseases a patient should be screened for, you need to identify a patient’s genetic heritage.
The majority of Jews in the United States trace their ancestry to Germany and Eastern Europe. These Jews are known as Ashkenazi, from the medieval Hebrew term for Germany. It is estimated at 90% of the Jews in the United States are Ashkenazi, most with ancestors who emigrated in the late 19th and early 20th century.
They share a common genetic heritage and risk from well-defined group of genetic diseases. Tay-Sachs Disease was the first disease identified and screened for in Ashkenazi Jews and is still the one most often known in the general public.
At this point there are 17 genetic diseases common to Ashkenazi Jews for which preconception carrier screening is recommended, plus Cystic Fibrosis and Spinal Muscular Atrophy, for which carrier screening is recommended for all populations. Ashkenazi Jews are generally aware of the concept of inherited genetic diseases, but often do not understand the need for preconception carrier screening, and rarely know the entire list of diseases for which they should be screened.
Sephardic and Mizrahi Jews
The two non-Ashkenazi Jewish populations in the United States are generally identified by the terms Sephardic and Mizrahi. Sephardic, from the Hebrew term for Spain, generally refers to the Jews who trace their heritage back to the expulsion of the Jews from Spain in 1492, at which point they emigrated to other points around the Mediterranean, including North Africa. Mizrahi, from the Hebrew terms for “East,” generally refers to Jews of Persian (Iranian) and Middle Eastern heritage.
The two terms are used somewhat imprecisely and often overlap when referring to country of origin, religious practice or genetic heritage. Persian Jews generally refer to themselves as such, while others who come from Middle Eastern countries may use the term Sephardic as a catch-all for non-Ashkenazi Jewish heritage and practice. In our materials, the JGDC utilizes the umbrella term Sephardic/Mizrahi to refer to non-Ashkenazi Jews and attempts to specify country or region of origin for each disease.
Due to the diverse genetic heritage of the Sephardic/Ashkenazi Jewish population, the smaller size of this group (estimated at only 10% of the Jews in the United States) and the fact that less research has been done, screening recommendations are still in a state of development. In our materials, the JGDC lists 16 diseases for which preconception screening should be considered, depending on country or region of origin, although no one individual would be screened for all 16.
Due to the rarity of some of the Sephardic/Mizrahi conditions, and the rapidly advancing state of research into these populations, tests are not as widely available and fewer genetic counselors are training to work with these populations. Given the concentration of the Persian Jewish emigrant populations on the North Shore of Long Island in Los Angeles, the genetics program at North Shore LIJ in Manhasset and Cedars-Sinai in Los Angeles can be useful resources for information and testing.
The Movements of American Judaism
American Jews generally identify with one of four movements: Reform, Reconstructionist, Conservative and Orthodox. Religious practice and engagement with the mainstream population varies among the four, with Orthodox offering more guidelines and structures for daily living. Orthodox Judaism itself has a wide spectrum of practice, from those Jews referred to as Modern Orthodox to the more observant Haredi or Ultra-Orthodox, who tend to live in their own communities.
The more observant Orthodox community has a genetic screening program called Dor Yeshorim (Upright Generation), based in Brooklyn. Young adults are screened before considering marriage, and carrier couples are discouraged from marrying. They perform screening for 9 Ashkenazi diseases unless additional tests are requested and results are not released to the patient. Both men and women are screened anonymously at Dor Yeshorim and their results are stored until the time of the match making process.
Family Heritage, Not Religious Practice, Determine Genetic Risk
Jewish family heritage, not religious practice, is the risk factor for inherited genetic disease. It is quite possible that a patient who does not identify as Jewish in a religious sense is Jewish in terms of genetic heritage. Questions should be phrased in terms of geographic and religious identification of parents and grandparents, not synagogue membership.
Carrier Screening and Jewish Ethics
All streams of Judaism in the United States have given their support to preconception genetic screening, starting with the Tay-Sachs screening programs in the 1970s.