Professional organizations that represent medical specialties offer practice guidelines to their members in an attempt to keep them up to date and to standardize care. Guidelines may vary by specialty, and guidelines for Jewish genetic disease carrier screening fall into this category.
The American Congress of Obstetrics and Gynecology (ACOG) guidelines currently recommend screening for the following 4 diseases in the Ashkenazi Jewish population: Tay- Sachs Disease, Canavan Disease, Familial Dysautonomia and Cystic Fibrosis. The guidelines call for information to be provided about other diseases as the patient requests.
The American College of Genetics and Genomics (ACMG) guidelines currently suggest screening for the following 9 diseases: Tay- Sachs Disease, Canavan Disease, Familial Dysautonomia, Cystic Fibrosis, Niemann-Pick Type A, Bloom Syndrome, Fanconi Anemia Group C, Mucolipidosis IV, and Gaucher Disease. The ACMG guidelines acknowledge more disease mutations will be discovered and provides a framework for adding more diseases.
The Victor Center follows guidelines set forth by the ACMG for inclusion of disorders on the Ashkenazi Jewish screening panel. Screening is recommended for diseases that have a 1% (1 in 100) or higher carrier frequency, are severe and have a high detection rate in the Ashkenazi Jewish population. The diseases below are listed in carrier frequency order. Some of these diseases are no more prevalent in Ashkenazi Jews than in the general population. Some diseases are rare, but all have high carrier detection rates in individuals of Ashkenazi heritage.
An expanded list of diseases is available for Ashkenazi Jewish individuals; however, many of these additional disorders do not yet meet ACMG guidelines and are based on research from one genetic testing lab only.
Learn more about Jewish genetic diseases, preconception screening and reproductive options, and about the questions most frequently asked by young adults, couples and their families.
Advances in genetic technology have led to significant changes in genetic screening and screening panels. Ethnic background and insurance coverage may have a bearing on your patient or couple’s screening options. A genetics professional can provide your patient the information she/he needs to make informed health decisions for their family’s future. The Victor Center can provide assistance in finding a genetic counselor in your area. Additionally, our clinical partners sponsor local community screenings.
Many insurance providers cover preconception screening although coverage and costs to patients can vary depending on their plan and the screening panel selected (e.g., lab, deductible and co-insurance requirements). Check with your patient’s insurance provider for more information.
Complete the contact form and submit to the Victor Center if you:
- Have questions or would like to learn more about preconception screening and counseling or Jewish genetic diseases
- Need to find your patient a genetics professional that isn’t included on our website
- Are interested in shaping our outreach and education efforts
- Want to join or establish a Victor Center partnership in your community