Testing for at-risk family members

Genetic testing for family members

Follow up testing for blood relatives

Genetic test results may have health implications not only for an individual, but for an entire family. If you receive a positive test result, family follow-up testing can help identify other family members at risk for the same genetic disease. Family members who test positive can work with their doctors to make a plan for prevention or early detection of disease.

When to consider family follow-up testing 

I received a positive test result

If you tested positive for a disease-causing (pathogenic or likely pathogenic) variant, your family members have up to a 50% chance of having the same variant.

If they also test positive, they may have an elevated risk of developing the disease and can look into options for prevention and early detection. If they test negative, their risk of developing the disease may be similar to the general population.

There are a few steps you can take:

  • Talk to your doctor or one of Invitae’s genetic counselors to determine which of your family members could be at risk. Call Invitae at 800-436-3037, Monday through Friday, 5:00 am to 5:00 pm Pacific.
  • Provide your family members with a copy of your genetic test report. We know that discussing your health can be difficult, so we created template letters to family members to help begin the conversation.
  • Encourage your family members to discuss the option of genetic testing with their doctor or a genetic counselor.

My family member received a positive test result

If your family member has a disease-causing (pathogenic or likely pathogenic) variant, you may have up to a 50% chance of having the same variant.

If you also test positive, you may have an elevated risk of developing the disease. With this knowledge, you can consider options for prevention and early detection. If you test negative, your risk of developing the disease may be similar to the general population.

There are a few steps you can take:

  • Obtain a copy of your relative’s positive genetic test report.
  • If you would like your doctor to order genetic testing for you, bring this letter and your relative's test report to your doctor's appointment. Some doctors will order genetic testing directly, while others will refer you to a genetic counselor.
  • You can also work with a genetics provider online who can order a test on your behalf.
  • Learn about how genetic testing works and Invitae’s genetic counseling services.
Genetic counseling

Your questions, answered

Our resource center offers: 

  • answers to commonly asked questions about family testing
  • more details on how to access family testing
  • answers to questions about genetic testing for minors