For Medical Professionals

The medical professional, especially the OB/GYN and the pediatrician, can be vital in promoting timely and appropriate carrier screening for individuals of Jewish heritage.  The JGDC strongly urges medical professionals to identify patients of Jewish heritage in their childbearing years and counsel them about the benefits of preconception carrier screening.

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The Importance of Preconception Genetic Screening for Patients of Jewish Heritage

In the past few years, advances in genetic science have led to the identification of dozens of mutations linked to genetic diseases which affect persons of Jewish heritage. The JGDC  believes that anyone of Jewish heritage who wants to start or add to a family should know their carrier status and, if necessary, be counseled about the reproductive options available to them.

Despite the widespread availability of testing and counseling for Jewish genetic diseases, there are still thousands of Jewish couples who become pregnant each year without having been screened for carrier status, and dozens of children born every year with serious, life-threatening, life-altering or even fatal diseases.

A few simple questions on an intake form or during a patient interview will help you to identify patients of Jewish heritage (or patient with a Jewish partner), and to identify individuals or couples who are planning to start or add to a family.

For the OB/GYN and the Pediatrician


The OB/GYN should identify patients with Jewish heritage (even one Jewish grandparent), or non-Jewish patients with a Jewish partner, who are planning to start a family, and counsel them about the availability of carrier screening. The best way to start a conversation may be to give the patient a copy of the JGDC patient-education brochure. Please contact us for a supply of brochures.

The Pediatrician

The pediatrician should identify older patients of Jewish heritage, and explain the value of genetic screening before pregnancy. The patient may be given a copy of the JGDC brochure, and told that when the time comes, they should seek screening.

The pediatrician should also identify parents of Jewish heritage who are still in their childbearing years, who may never have been screened, or whose screening may not be up to date, due to the new diseases for which screening has become available. These parents can be given a copy of the JGDC brochure and be told to speak to their own doctors about screening.

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?

Special Cases

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.

Ashkenazi Jews

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.

Download Ashkenazi Disease List as a PDF

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.

Download Sephardic and Mizrahi Diseases Charts as PDF

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.

Training for Medical Professionals

The JGDC has brought our Grand Rounds presentation to over a hundred locations around the country. If you would like us to bring the presentation to your hospital, practice or community, please contact us to discuss the Grand Rounds program.

Our advisors are available to answer particular questions about Jewish genetic diseases and the screening process. Please feel free to contact us with your question.