Information for Healthcare Professionals

Healthcare professionals are often the “gatekeepers” to genetic screening for their patients. It is important for health care providers to stay up-to-date on the latest advances in genetic diseases and genetic screening.

 

Major Jewish Subgroups

Ashkenazi Jews refer to the group of Jewish people whose ancestors lived in Eastern or Central Europe (i.e. Poland, Russia, Germany, Lithuania, etc.) It is estimated that greater than 90% of Jews in the United States and Canada are Ashkenazi.

Sephardic Jews refer to the group of Jewish people whose ancestors lived in Spain and Portugal, but also include the Jews of Northern Africa and the Middle East. Sephardic Jews are at increased risk to carry mutations in genes for different diseases than Ashkenazi Jews. These include Beta Thalassemia, Familial Mediterranean Fever, and Glucose-6-Phosphate-Dehydrogenase (G6PD) deficiency. Additionally, Jews of Northern African descent are at increased risk to carry a gene mutation for Glycogen Storage Disease type III. Genetic screening is available for some of these disorders.

Other small groups include Yemenite Jews, Ethiopian Jews and Oriental Jews.

 

Identifying Jewish Patients

Asking patients about their ethnic or religious identities can be a very sensitive issue for physicians. Most physicians rely on self-identity of their patients, but some patients are not aware of their family’s ethnic origins. Helping patients identify their roots is crucial for proper diagnosis.

 

Questions to ask prior to carrier screening

• What is your ethnicity?
• What is your religion?
• Are both parents Jewish?
• What countries did your ancestors come from?
• If Israel, did they migrate there from Eastern Europe? Or from a Middle Eastern country?
• Are you Ashkenazi or Sephardic?

 

American College of Obstetrics and Gynecology (ACOG) Recommendations for screening

ACOG now recommends that all Ashkenazi Jewish individuals be offered carrier screening for Tay-Sachs disease, Canavan disease, Cystic Fibrosis and Familial Dysautonomia as part of routine obstetrical care. ACOG recommends that the screening be offered prior to conception or in early pregnancy to optimize the time for couples to consider reproductive and testing options.

If only one member of a couple is Ashkenazi, it is recommended that that person be screened first. If that person is found to be a carrier, the non-Ashkenazi partner can be screened, although carrier detection rates in the non-Ashkenazi population will vary by disease.

If a patient is only part Ashkenazi they should still be offered screening. It is important to understand that their chances to be a carrier would be less than those who are 100 % Ashkenazi, and their residual risk after negative carrier testing will also be different than those who are 100% Ashkenazi.

It is also recommended that health care providers discuss carrier screening for the other disorders found to be more prevalent among Ashkenazi Jews. Physicians may wish to refer patients for genetic counseling for a more comprehensive discussion of these disorders.

 

American College of Medical Genetics Statement on Direct-to-Consumer Genetic Testing

…“Due to the complexities of genetic testing and counseling, the self-ordering of genetic tests by patients over the telephone or the Internet, and their use of genetic “home testing” kits, is potentially harmful. Potential harms include inappropriate test utilization, misinterpretation of test results, lack of necessary follow-up, and other adverse consequences.”