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What is Jewish Genetic Screening

By: Syndication Cloud

February 24, 2025 at 15:49 PM EST

Originally Posted On: https://www.jscreen.org/blog/what-is-jewish-genetic-screening

What is Jewish Genetic Screening?

For the Ashkenazi Jewish population, genetic carrier screening is an important step in family planning and health management.

Approximately 1 in 4 individuals of Ashkenazi Jewish descent carries at least one genetic mutation that could affect future generations, and understanding the risks pertaining to those of Jewish ancestry can prove vital for making informed healthcare decisions, especially when it comes to pregnancy.

Statistics on Ashkenazi Jewish Genetic Conditions

The frequency of certain genetic conditions in the Ashkenazi Jewish population is notably higher than in the general population. This is often because Jews of Ashkenazi descent are more likely to be carriers of certain genetic conditions. For most genes, we are each born with two copies. When one autosomal recessive gene contains a mutation that shuts down the function of that gene, the other copy of the gene is typically sufficient, and a mutation carrier will not typically experience symptoms.

However, when two individuals who are both carriers of mutations in the same gene conceive together, there is a 25% chance with each pregnancy that both the mom and dad pass on the copy of the gene containing the mutation to their offspring. With neither copy of a given gene working properly, that child could have symptoms of the condition for which their parents are carriers.

Some of the most common conditions for which individuals of Ashkenazi Jewish descent are carriers include:

Tay-Sachs Disease: 1 in 27 carrier rate
Gaucher Disease: 1 in 15 carrier rate
Familial Dysautonomia: 1 in 31 carrier rate
Canavan Disease: 1 in 40 carrier rate

High carrier frequency in a particular population will also mean that without intervention, it is more likely for individuals in that population to be affected with the condition.

Mixed Heritage Considerations

It is important to note that having partial Jewish ancestry still warrants consideration for genetic screening for conditions more common in Jewish individuals.

For example:

Even one One Jewish grandparent is sufficient to be considered “Jewish” for the purpose of testing reasons for testing
Partners of Jewish individuals carriers should be tested as well consider screening
Expanded panels that are considered “pan-ethnic” are available for interfaith couples
Testing may be valuable regardless of known percentage of Jewish ancestry

Understanding BRCA Mutations

BRCA1 and BRCA2 mutations significantly impact cancer risk in the Ashkenazi Jewish population. In contrast to the conditions described above, in the case of BRCA mutations, even a single inherited mutation is sufficient to cause an increased risk of cancers.

Women with BRCA mutations face:

Up to an 85% lifetime risk of breast cancer
Up to a 46% risk of ovarian cancer
Increased risk of pancreatic cancer

Men with BRCA mutations may experience:

Higher risk of prostate cancer
Increased risk of male breast cancer
Elevated pancreatic cancer risk

The Testing Process

Genetic screening has evolved into a comprehensive yet straightforward process that includes these initial considerations:

Review of family history
Consideration of testing options
Risk assessment

With Sample Collection involving:

Simple saliva (or blood) sample
Non-invasive
Can be done pretty much anywhere!

‍And results and counseling concluding as follows:

Results within 2-4 weeks
Professional genetic counseling
Discussion of next steps

The Impact on Family Planning

In the case of autosomal recessive conditions, understanding your carrier status opens multiple pathways for family planning:

For Carriers:

Partner testing is highly encouraged
Preconception planning, especially if both partners are positive for mutations in the same gene
Prenatal testing choices, especially if an at-risk pregnancy is already underway
Reproductive technology alternatives, in order to allow for genetically healthy pregnancies

For Non-Carriers:

Peace of mind can provide its own value
Greater understanding of family risks
Informed healthcare decisions

Taking Action on Hereditary Cancer Screening

In the case of cancer predisposition genes, early identification of risks enables proactive health management through:

Enhanced cancer screening protocols
Risk-reducing procedures when appropriate or desired
Preventive medication options or targeted therapies
Lifestyle modifications
Family testing recommendations

Next Steps

The decision to pursue genetic screening represents a powerful step toward proactive health management. While mutations in certain genes are relatively common in the Jewish population, having access to this information enables informed decision-making and family planning.

Remember, genetic screening is about expanding options through knowledge, understanding and access. Whether you’re planning a family or are concerned about hereditary cancer risks, professional guidance is available to help you navigate your genetic health journey.

‍Contact our genetic counselors today to discuss your screening options and develop a personalized testing plan that addresses your specific needs and concerns.

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