All you should know about Ashkenazi Jewish genetic testing before marriage

Planning a life together is more than shared dreams. For couples with Ashkenazi Jewish heritage, there’s a crucial layer to consider — a higher prevalence of inherited genetic conditions within the community. 

Knowing your carrier status before marriage lets you understand the potential risks if you plan to grow your family. By undergoing Jewish genetic testing before marriage, you can step confidently into your future and give your future family a healthy start.

In this guide, we’ll walk you through everything you need to know about Ashkenazi Jewish genetic testing, answer your questions, and explain the procedures involved. 

We will also introduce you to Nucleus, a trusted genetic testing service that provides an in-depth look into your genetic predispositions, including genetic risks prevalent in the Ashkenazi Jewish community. 

Why is Ashkenazi Jewish genetic testing necessary?

Ashkenazi Jewish genetic testing is a way to determine whether you have rare genetic variations related to the Ashkenazi Jewish population that could result in health issues or end up being passed to your child. 

If you or your partner have Ashkenazi Jewish (AJ) heritage with roots from the medieval Jewish communities of Rhineland, understanding your genetic makeup is especially important. Due to historical factors, such as the “founder effect” and population bottlenecks, specific genetic variants, including those responsible for Tay-Sachs disease and over 20 hereditary conditions, became more prevalent within the AJ population. 

These variations, though harmless for the carrier, can lead to potential health conditions in children whose parents carry the same gene variant. By undergoing genetic testing, you and your partner can better understand your individual carrier status for these conditions before you start or expand your family.

[Reddit](https://www.reddit.com/r/todayilearned/comments/zhty5w/comment/iznvhe5/)(260)

Bonus — Learn more about other types of genetic tests:

1. NIPT test

2. Quad screen vs. NIPT

3. First-trimester screening vs. NIPT

4. NIPT vs. Amniocentesis

Types of Jewish genetic testing available

Source: Anna Tarazevich

Several types of genetic tests can be used to screen for Jewish genetic disorders, each of which serves different purposes and offers different levels of information. The two most common ones are:

1. Targeted carrier screening

2. Whole-genome sequencing (WGS)

1. Targeted Ashkenazi Jewish carrier screening

Ashkenazi Jewish carrier screening is a targeted genetic test that shows whether a person of Ashkenazi Jewish origin is a carrier of genes linked to specific types of diseases prevalent in this group. It is the most common type of testing for Ashkenazi Jewish couples. 

How it’s done: A blood or saliva sample is analyzed to detect specific gene mutations associated with common Jewish genetic diseases.

• Bonus read: Learn about hemophilia carrier testing, another type of genetic screening.

2. Whole-genome sequencing (WGS)

Whole-genome sequencing is a comprehensive laboratory test that analyzes almost 100% of your DNA to give you the most detailed blueprint of your entire genetic makeup. It sequences around 6 billion gene pairs to provide a much more complete picture of your genetic makeup compared to other types of genetic tests that only analyze specific genes. It’s far more encompassing than standard AJ carrier screening. 

How it’s done: A DNA sample, usually blood or saliva, is analyzed to determine the complete DNA sequence and reveal various genetic predispositions, including carrier status for AJ diseases.

How are Ashkenazi genetic diseases inherited?

Source: Edward Jenner

For a child to develop any of the Jewish genetic disorders, they must inherit two variants of the same gene from their parents. This is known as autosomal recessive inheritance. 

Every person has two copies of each gene — one comes from the mother and the other from the father. When a recessive inheritance of a genetic disease occurs, it’s because both genes in the same pair are mutated. 

If two parents carry the same gene variant and give birth to a child, it can lead to four possible outcomes, as shown in the illustration below:

Source: Jewishgeneticdiseases

Here’s what this means:

1. The child inherits two normal copies of the gene, one from each parent. In this case, the child is not a carrier and is not affected by the disorder — this outcome has a 25% probability. 

2. The child inherits one normal copy of the gene from one parent and one mutated copy from the other. This child is a carrier of the disease, but can lead a normal, asymptomatic, healthy life. The child can, however, pass the variant to their children. This outcome has a 50% probability. 

3. The child inherits two mutated genes, one from each parent. In this situation, the child will be affected by the genetic disorder and exhibit disease symptoms. This outcome has a 25% probability. 

4. As in the second scenario, the child inherits one normal and one mutated copy. This outcome has a 25% probability rate. 

It’s important to remember that being a carrier doesn’t automatically mean your child will inherit the disease, or even become a carrier themselves. 

Common genetic disorders among the Jewish people

About two-thirds of Jewish Americans have an Ashkenazi Jewish background, with heritage from Eastern or Central Europe. About one in four people in this group carries a gene associated with an AJ genetic disease. 

[Reddit](https://www.reddit.com/r/TooAfraidToAsk/comments/10am01u/comment/j45x225/)(260)

The following health conditions are particularly common among Ashkenazi Jewish individuals and can be detected and acted upon through genetic testing: 

• Tay-Sachs disease: A disorder affecting the nervous system that can lead to seizures, hearing and vision loss, muscle weakness, and trouble swallowing.

• Canavan disease: A disease of the central nervous system causing seizures and intellectual disabilities. 

• Cystic fibrosis: Damage to the internal organs, especially the lungs, leading to breathing and digestion issues and a reduced life span. 

• Fanconi anemia: A blood disorder that increases the risk of cancers like leukemia. People with this disorder do not have enough blood cells, which leads to problems with the heart, kidneys, arms, or legs. 

• Niemann-Pick disease: This disorder causes a type of fat called sphingomyelin to build up in the liver cells, spleen, lymph nodes, and bone marrow. 

• Mucolipidosis IV: This disease leads to a breakdown of the nervous system as time passes.

• Bloom syndrome: People with this disease are at high risk for developing cancer. Symptoms include short height, high-pitched voice, and sun-sensitive skin. 

Other common Ashkenazi Jewish diseases include Gaucher disease, Maple syrup urine disease, Glycogen Storage 1a, Familial Dysautonomia, and Spinal muscular atrophy. 

Carrier detection rate for common Jewish genetic diseases

If you or your partner is of Ashkenazi Jewish descent, understanding the likelihood of being a carrier of common AJ diseases is crucial for informed family planning. The table below helps you assess the risk of being a carrier:

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Why is Jewish genetic testing before marriage necessary?

Jewish genetic diseases are often incurable, so genetic testing is the most effective way to reveal potential inherited risks before starting a family. It helps you identify whether you or your partner are carriers of the genetic disorders prevalent in the Ashkenazi community, even if you are healthy or have no family history of it. 

Other benefits include reducing the risk of passing the condition to your offspring and allowing you to make informed decisions about your reproductive options, including:

• Preimplantation genetic testing (PGT)

• In vitro fertilization

• Prenatal diagnostic testing during pregnancy 

• Adoption or using donor eggs or sperm

It also helps you understand the potential risks before marriage so you can mentally and emotionally prepare for potential future challenges. 

Who is Ashkenazi genetic testing ideal for?

Source: Cottonbro studio

Experts recommend that couples with a partner who has at least one Jewish grandparent should undergo testing. 

Usually, the partner with the Jewish grandparent will be the first to undergo carrier screening. If that partner is positive for a genetic disease, the other partner should undergo the test as well. 

If both partners are Ashkenazi Jewish, then both are advised to undergo the screening. This screening is also recommended if you or your partner have a family member with any of the disorders found among people of AJ origin. 

When to undergo genetic Jewish testing?

The ideal time to undergo AJ genetic testing is before marriage or before pregnancy, though it can also be done later on. If you’re already pregnant, experts recommend doing your screening as early as possible so you can make further decisions based on the results.  

The earlier you test, the more reproductive options are available. For instance, if you test before conception, the full range of reproductive options is available, but if you test during pregnancy, the options are limited to:

1. Carrying the pregnancy to term with the knowledge of the diagnosis

2. Terminating the pregnancy (available in some jurisdictions) 

This may lead to increased emotional stress and complex decision-making. However, even if testing happens later in pregnancy or after your baby is born, knowing your status is still valuable. You can prepare emotionally and practically for a baby that may have special needs, and seek out specialized medical support early to provide the best care to your child. 

Understanding your test results and genetic counseling

Here’s a quick summary of the possible test outcomes:

Whatever the results, genetic counseling can be helpful. A genetic counselor will inform you of your reproductive options, explain the risks and challenges to you, and help you settle on a suitable option.  

Genetic screening for Ashkenazi Jewish diseases is highly accurate, but not always 100% accurate. There can sometimes be false negatives that indicate you’re not a carrier when, in fact, you are. Although less common, false positives can also occur, suggesting that you may be a carrier when you are not. 

Where to get Ashkenazi Jewish genetic testing

There are several specialized laboratories, hospitals, and genetic testing facilities that offer Jewish genetic testing. They are usually accessed through referrals from your healthcare provider. 

If you want convenience and a more detailed understanding of your genetic makeup, at-home DNA testing kits offer a practical alternative. Companies like Nucleus provide comprehensive whole-genome sequencing beyond standard carrier screening. Its test screens for 900+ conditions, including the ones common in people of AJ origin. 

The company’s WGS carrier screening solution, Nucleus Family, can provide you with a more informed approach to family planning and personal health management.   

Nucleus: Your go-to for comprehensive Ashkenazi Jewish genetic testing

Unlike standard screening tests that focus on a limited set of Ashkenazi gene mutations, Nucleus Family offers more advanced whole-genome sequencing that analyzes your entire genetic code. 

This means you gain a much broader understanding of your genetic predispositions to AJ conditions and other diseases, empowering you and your partner to make informed decisions about your health and family planning. 

Nucleus’ Ashkenazi Jewish screening panel is particularly thorough. It includes testing for common AJ conditions like: 

• Tay-Sachs disease

• Canavan disease

• Cystic fibrosis

• Fanconi anemia

• Bloom syndrome

• Mucolipidosis IV

• Niemann-Pick disease

However, it extends far beyond these, analyzing your DNA for over 900 conditions, giving you and your partner a truly comprehensive view of your genetic risks. 

Although Nucleus presents your results in an easy-to-understand report, it also partners with SteadyMD to provide you with access to genetic counselors who can guide you on the next steps. You’ll also get personalized AI health tips that help you understand your results and equip you with tailored, actionable steps.

How to get started with Nucleus

Taking a test with your Nucleus Family kit is easy by following these steps: 

1. Sign up for Nucleus Family

2. Fill out your personal information

3. Order your test kit

Follow the instructions to take the test, then ship the kit back to the lab using the pre-paid, pre-labeled envelope. Within 6–8 weeks, your results will be released to your online account. 

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Featured image source: Tomer Warschauer Nuni