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For Medical Professionals

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

The Importance of Preconception Genetic Screening

In the past few years, advances in genetic science have led to the identification of scores of mutations linked to genetic diseases. The Canavan Foundation believes that anyone 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 carrier screening and counseling for genetic diseases, there are still many 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.

For the OB/GYN, The Pediatrician and the Primary Care Provider

We distribute free patient-education brochures (view sample) published by the Jewish Genetic Disease Consortium, of which we are a member.  Please contact us for a supply.   

The OB/GYN should identify patients with Jewish heritage (even one Jewish grandparent), non-Jewish patients with a Jewish partner, and others at risk 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 brochure.

The pediatrician and the primary care provider may see patients who will become pregnant before ever seeing an Ob-Gyn. They should identify patients of Jewish heritage, or from other risk groups, 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, or other risk groups, 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.


Questions to Ask Your Patients

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.

  • Do they have Jewish heritage? Ascertain as far as possible whether it is Ashkenazi (German/Eastern European) or Sephardic or 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 and Couples of Mixed Heritage

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

It is important to understand a patient's genetic heritage in order to recommend the proper screening.   Learn more about Jewish heritage and identify in the United States.

Resources and Training for Medical Professionals

We distribute free patient-education brochures published by teh Jewish Genetic Disease Consortium, of which we are a member.  Please contact us for a supply.  

There are a number of journal articles with useful information on genetic carrier screening for Jewish genetic diseases:

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