Genetic testing for couples: How to plan for a healthy future together

Genetic testing for couples isn’t just for those with a known medical history — it can benefit any couple who wants to make informed decisions about their future. Testing can reveal whether you or your partner carry genes for inherited conditions, even if no symptoms are present.

With this knowledge, couples can explore family planning options like fertility treatments, assisted reproductive technologies, or genetic counseling.

In this article, we’ll break down everything you need to know about genetic testing for couples — from the types of tests available to how they work, what the results mean, and where to get tested.

What is genetic testing for couples?

Image source: Polina Zimmerman

Genetic testing for couples, also known as genetic compatibility testing for couples, involves screening both partners to determine if they carry gene variants that could be passed on to their children. It specifically focuses on identifying whether each partner carries variants for recessive genetic conditions, which typically only affect a child if both parents carry the same variant.

There are several types of genetic compatibility testing for couples, including:

• Carrier screening: This is the most common genetic test for couples and checks for specific known variants in recessive genetic conditions (such as cystic fibrosis or sickle cell anemia).

• Expanded carrier screening: A broader test that screens for a wider range of genetic conditions, often including hundreds of conditions that may not be directly related to the couple's ethnicity or family history.

• Whole-genome sequencing (WGS): A more comprehensive test that examines the entire genome to identify genetic variants that might pose a risk for various inherited conditions.

• Ethnicity-specific carrier screening: Some tests focus on genetic conditions more common within certain ethnic groups (e.g., sickle cell disease in African American or Tay-Sachs disease in Ashkenazi Jewish populations). 

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Bonus read — Learn more about the benefits of carrier screening.

How does genetic testing for couples work?

The process varies slightly depending on the type of test selected, but it generally involves collecting a simple sample (either blood or saliva) from one or both partners. Here’s a brief overview:

No matter which test you choose, all are designed to provide clear, actionable insights. This helps you and your partner understand potential risks and explore the family planning options that best fit your needs.

What can a genetic compatibility test reveal?

When couples undergo genetic testing, the results they get generally fall into three categories:

1. Negative: A negative result means no concerning gene variants were found in either partner. This is a positive sign, although no test can guarantee zero risk — genetic science is always advancing, and very rare variants might not be covered by the test yet.

2. Positive: This means that both partners carry variants in the same gene linked to a recessive condition, which means there’s an increased chance their child could inherit that condition. While this may feel overwhelming, there are many supportive options available, like genetic counseling or fertility treatments, to help you make informed decisions.

3. Inconclusive: Sometimes, tests identify gene variants that are classified as variants of uncertain significance (VUS). These are changes in DNA that researchers haven’t fully understood yet. It’s normal to feel uncertain, but genetic counselors can provide clarity and recommend any necessary follow-up.

It's also worth noting that no test is perfect. While rare, false negatives (where a variant is missed) and false positives (where a harmless variant is flagged as potentially harmful) can occur. That’s why results should be interpreted with a genetic counselor, who can help explain what they mean for your specific situation and guide you through the next steps. 

What are the next steps for couples after genetic testing? 

If your genetic compatibility test revealed a potential risk, or even left you with more questions than answers, there are several paths you can take. Depending on what your results reveal, you can:

1. Meet with a genetic counselor

2. Explore IVF with preimplantation genetic testing (PGT)

3. Opt for a pregnancy diagnostic test

4. Consider postnatal testing

5. Explore adoption

1. Meet with a genetic counselor

Source: Pavel Danilyuk

No matter what your results indicate, talking to a genetic counselor is often the first and most important step. They’ll help you understand what your results actually mean, what conditions may be involved, and which next steps fit your personal goals — whether you’re planning to get pregnant, already are, or considering other options.

2. Explore IVF with preimplantation genetic testing (PGT)

For couples who carry the same gene variant, in vitro fertilization (IVF) combined with preimplantation genetic testing can reduce the chance of passing on a condition. PGT allows doctors to analyze embryos before implantation, selecting those without the condition.

While IVF with PGT involves medical, financial, emotional, and ethical considerations, it can be a powerful option for couples who want to have a biologically related child while minimizing the risk of passing on genetic conditions.

3. Opt for a pregnancy diagnostic test

If you’re already pregnant, diagnostic procedures like chorionic villus sampling (CVS) or amniocentesis can provide more definitive answers. These tests analyze fetal cells to confirm whether a specific genetic condition is present.

They're typically offered when a known risk has been identified. If a disorder is detected, next steps — including medical or ethical consultations — may be discussed based on your local healthcare framework.

4. Consider postnatal testing

Some couples choose to wait until after the baby is born to pursue genetic testing. This might make sense if the pregnancy appears low-risk on ultrasound, or if the parents prefer to avoid invasive prenatal tests.

Early postnatal testing can help confirm or rule out concerns and guide any medical care your child might need.

5. Explore adoption

If you're concerned about passing on a serious condition, adoption can be a deeply meaningful way to build your family. 

For some couples, it offers a path to parenthood without the emotional and medical uncertainties that come with genetic risk.

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Why genetic testing for couples can help you plan with more confidence

If you're planning to have children, whether now or someday, getting a genetic test as a couple can give you valuable clarity.

It offers many benefits, including:

• Peace of mind if no major risks are found: If neither partner carries concerning gene variants, you can move forward with greater confidence, knowing that the chance of passing on many serious inherited conditions is low.

• Clarity when there is a risk: If both partners carry changes in the same gene, you'll be informed early, which gives you more time and options. Whether that leads to IVF with genetic testing, adoption, or another path, you’ll be deciding from a place of knowledge.

• More family planning choices: Genetic insights expand your options, not limit them. Whether you're considering natural conception, IVF, donor sperm/eggs, or adoption, screening helps you make those decisions with confidence.

Where to get genetic carrier testing — and what to look for?

Finding the right provider you’ll take the test with depends on what you value most as a couple. Here are a few things to consider when choosing:

• How comprehensive the test is: Some tests screen for just a few dozen conditions. Others, like those using whole-genome sequencing, can screen for hundreds or even thousands.

• Whether they offer expert guidance: Look for providers that offer access to certified genetic counselors who can help you interpret your results and explain next steps.

• The convenience of the process: At-home tests can save time and offer more privacy. Many couples prefer this route, especially when it doesn’t compromise clinical quality.

Nucleus offers a whole-genome carrier screening test that checks all the boxes — it’s highly comprehensive, clinically validated, and non-invasive. Both you and your partner can get tested and get a complete picture of your combined genetic risk — all from the comfort of your home.

Nucleus: A complete genetic screening solution for couples

If you and your partner are considering genetic testing, Nucleus offers a whole-genome carrier screening designed specifically for couples planning a family.

Unlike many standard tests that only screen for a limited number of conditions, Nucleus uses whole-genome sequencing to screen for over 900 inherited conditions, giving you a more comprehensive view of your shared genetic risks. It’s designed to help couples make confident, informed choices, whether you're planning for the near future or just thinking ahead.

Here’s what makes Nucleus a strong choice:

• Built for couples: Nucleus allows both partners to get tested, giving you a clearer picture of potential inherited conditions.

• At-home and non-invasive: The test uses cheek swabs you collect at home using the included kit.

• Easy-to-understand reports: Nucleus breaks down complex genetic data into illustrative, actionable insights that anyone can decipher.

• Offers genetic counseling: If you have questions or want help interpreting your results, you’ll have access to board-certified genetic counselors through Nucleus’s partnership with SteadyMD.

Nucleus is HIPAA-compliant and only works with CAP-accredited and CLIA-certified labs to meet the highest standards of quality and accuracy for genetic testing.

How to get started with Nucleus

The Nucleus kit costs $499 ($798 for both partners) and includes everything you need — test materials, shipping, and the report you’ll get.

Here’s how to get started:

1. Sign up for Nucleus

2. Fill out your personal information 

3. Order your test kit

Once the kit arrives, swab the inside of your cheek and send the samples to the lab. You’ll receive your comprehensive results in 6–8 weeks.

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