NIH study on unexpected genetic testing results
Quick Facts
📌 Studying: people who had genetic testing done for some other reason and got a result related to a genetic heart rhythm condition
📌 Status: Now Enrolling
About This Research Study
This study is for people who had genetic testing for another reason but unexpectedly got a result related to a genetic heart rhythm condition. Researchers at the National Institutes of Health (NIH) want to learn how people understand and use these kinds of results — and how the healthcare system can better support them.
Your participation could help improve care and communication for future patients and families who receive similar genetic results.
What’s Involved
If you join the study, you’ll:
- Complete a survey and phone interview about your experience and how you’ve used your genetic result.
- You’ll be asked about any changes you made to your healthcare, which recommendations you followed (or didn’t), and how you shared your result with family members.
- May be invited to a second phase that includes additional testing for you and/or family members — either at the NIH or in your local area.
- There is no cost to participate.
- If travel to the NIH is needed, travel and hotel costs will be covered for U.S. participants.
All participants receive:
- A simple explanation of what your genetic result means
- A checklist of health actions to take
- Additional counseling or support to help you access recommended care (if needed)
Why This Study Matters
Only a small number of people — about 2 in every 100 who get genetic testing — receive an unexpected result related to a genetic heart rhythm condition. By sharing your experience, you’ll help researchers understand what makes it easier or harder for patients to get the right follow-up care and help improve how future results are communicated and used.
Have a question? We can help you understand research options, requirements, and genetic testing – without any expectation that you enroll in this study. Reach out to learn about research and next steps from the SADS Foundation’s clinical trial support team.
What are the basic eligibility criteria?
You may be eligible if you:
- Got a genetic testing result related to your heart after being tested for another reason
- Speak English or Spanish
- Have (or are the parent of someone with) a genetic result in one of these genes: ACTC1, DSC2, DSG2, DSP, GLA, KCNH2, KCNQ1, LMNA, MYBPC3, MYH7, MYL2, MYL3, PKP2, PRKAG2, RYR2, SCN5A, TMEM43, TNNI3, TNNT2, or TPM1
- If your result involves another gene linked to your heart, contact the study team – you may still qualify.
You May Not Be Eligible If You:
- Had genetic testing specifically to learn about your heart risk
- Have a genetic result related only to parentage, ancestry, Alzheimer’s disease, or cancer (variants of uncertain significance)
Full eligibility criteria will be evaluated by the researcher to determine if an individual is the right candidate for this study.
NIH study on unexpected genetic testing results
After filling out the form below, you’ll have a chance to discuss this research study - and any questions you might have - directly with the staff at the SADS Foundation. Then a member of the staff will connect you one-on-one with the research coordinator.