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Genetic Testing for Jewish Families

For Jewish families, genetic testing is more than a medical procedure—it's a pathway to informed family planning and proactive health management. Certain genetic conditions are more prevalent in Jewish communities, in part, due to factors such as shared ancestry, making carrier screening and hereditary cancer testing particularly important.

Why This Matters:

About 1 in 30 Ashkenazi Jews carries a Tay-Sachs mutation, and many other genetic conditions affect Jewish communities at elevated rates.1 Carrier screening before or during family planning can help you make informed reproductive choices. This resource library guides you through what you need to know.

Ashkenazi Jewish Genetic Diseases: What You Should Know

Certain genetic diseases are more common in people of Ashkenazi Jewish descent due to founder mutations, which are changes in genes that were passed down through generations of ancestors.2 Understanding these diseases and your carrier status is the first step toward protecting your family.

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Tay-Sachs Disease

Carrier Frequency:

~1 in 15 Ashkenazi Jews3

Description:
A fatal, severe neurological disorder that usually appears in infancy and causes progressive loss of vision, hearing, and motor control.

Gaucher Disease

Carrier Frequency:

~1 in 15 Ashkenazi Jews3

Description:
A metabolic disorder where harmful substances build up in certain organs in the body. Severity ranges and may be diagnosed in childhood, as well as later-appearing forms.

Familial Dysautonomia (FD)

Carrier Frequency:

~1 in 30 Ashkenazi Jews3

Description:
A rare genetic disorder affecting the autonomic nervous system, causing problems with temperature regulation, taste, and pain sensation.

Canavan Disease

Carrier Frequency:

~1 in 20 Ashkenazi Jews3

Description:
A neurological disorder affecting white matter in the brain, causing developmental delays and progressive neurological symptoms.

Hereditary Cancer Risk in Jewish Communities

Ashkenazi Jews have a significantly higher prevalence of mutations in the BRCA1 and BRCA2 genes compared to the general population.4 These mutations increase the risk of breast, ovarian, pancreatic, prostate and other cancers. Genetic screening is a critical tool for early detection and personalized prevention strategies within the Jewish community. Identifying these risks early can transform a family history of cancer into an actionable roadmap for long-term health and prevention.

Did You Know?

Ashkenazi Jewish women and men have approximately a 1 in 40 chance of carrying a BRCA mutation, compared to 1 in 500 in the general population.4

What Is Carrier Status?

A carrier is a person who has inherited one copy of a recessive gene mutation but does not have the disease itself. Carriers are typically healthy and show no symptoms. However, if both parents are carriers of the same genetic disease, there is a 25% chance with each pregnancy that their child will inherit two copies of the mutation and have the condition.5

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When Both Partners Are Carriers

If genetic testing shows that both you and your partner carry mutations in the same gene, you face important decisions about family planning. Understanding options that are available to help you plan for the health of your future family is essential.

You Have Options

Modern reproductive medicine offers several pathways for couples who are both carriers. Our comprehensive resource covers topics such as in vitro fertilization (IVF) with preimplantation genetic testing (PGT), prenatal diagnosis, and other options.

The Role of Genetic Counseling

Genetic counseling is a vital part of the testing process. A certified genetic counselor will help you understand your test results, discuss what they mean for your health and family, explore your options, and provide emotional support.8

A genetic counselor will:

Help you understand your test results and their implications

Discuss how genetic conditions run in families and your specific risks

Explore family planning options and help you make informed decisions

Provide culturally sensitive support that respects your religious and personal beliefs

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Take Action: Your Next Steps

Ready to Get Screened?

Start with a reproductive carrier screening kit. Our at-home test covers 260+ genetic conditions. Certified genetic counselors are available to answer questions and review your results with you.

Questions About Genetic Cancer Risk?

This hereditary cancer kit tests for mutations in the BRCA genes and 60+ other genes linked to increased hereditary cancer risk.

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Explore More Resources

Browse our full blog library for in-depth articles on genetic diseases, family planning, inheritance patterns, and Jewish health topics:
Complete blog resource library
Learn about jscreen's mission and approach 

About jscreen's Mission

jscreen was founded on a simple but deeply held belief: that everyone deserves access to genetic testing that can protect themselves and their families from devastating genetic diseases. We are a national 501(c)(3) nonprofit organization dedicated to making comprehensive genetic screening accessible, affordable, and empowering for Jewish families and beyond.
Read more about us and the important work we’re committed to. 
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References

  1. National Institutes of Health, National Library of Medicine. Tay-Sachs disease. MedlinePlus. https://medlineplus.gov/taysachsdisease.html.  Accessed April 2024.‍
  2. Dana-Farber Cancer Institute. What's the connection between BRCA and Ashkenazi Jewish ancestry? Published June 2023. https://blog.dana-farber.org/insight/2023/06/whats-the-connection-between-brca-and-ashkenazi-jewish-ancestry/.  Accessed April 2024.
  3. Mayo Clinic. Gaucher disease; Familial dysautonomia; Canavan disease. Mayo Clinic Patient Education. https://www.mayoclinic.org.  Accessed April 2024.
  4. National Cancer Institute. BRCA mutations and Jewish ancestry. National Cancer Institute. https://www.cancer.gov.  Accessed April 2024.
  5. American College of Obstetricians and Gynecologists. Screening for genetic disorders. ACOG Fact Sheet. Published 2023. https://www.acog.org.  Accessed April 2024.
  6. American College of Obstetricians and Gynecologists. Prenatal diagnostic testing for genetic disorders. ACOG Practice Bulletin No. 188. Obstet Gynecol. 2018;131(4):e73-e97.
  7. Society for Assisted Reproductive Technology. Information about preimplantation genetic testing. https://www.sart.org. Accessed April 2024.
  8. National Society of Genetic Counselors. Genetic counseling. https://www.nsgc.org. Accessed April 2024.