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NIH study on unexpected genetic testing results

Now enrolling patients who received a positive genetic test for an inherited arrhythmia while testing for something else.

Quick Facts

Trial Name:

NIH Study on Unexpected Genetic Testing Results (Genomic Services Research Program)

Run By:

National Human Genome Research Institute, part of the National Institutes of Health (NIH)

Condition:

All inherited arrhythmia conditions

Ages:

Open to all ages, including adults and children

Languages:

English or Spanish

Sites:

Virtual, with optional in-person visits at the NIH Clinical Center (Bethesda, MD) for selected participants

Status/Phase:

Open to New Participants

About This Research Study

This study is for people who had genetic testing for another reason but unexpectedly got a result related to an inherited arrhythmia. This is what researchers call a “secondary” or unexpected finding. 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.

The study is designed to answer two questions:

  1. What do people who learn about an unexpected (secondary) result think about and do with that result?
  2. What can we learn about the health of people who receive these results?

Only a small number of people – about 2 in every 100 who get genetic testing – receive an unexpected result like this. 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.

Learn more about this study here.

Ask a Question About Research

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.
  • Are willing to talk with the study team about your result over the phone.
  • Are open to a free visit to the NIH for screening tests related to your result (optional, for selected participants).
  • 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.
  • Expected the finding, or ordered/pursued testing because you were already aware of this variant in your family. 
  • 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.

What participation involves

What’s involved

Details

Screening calls

One or two phone calls to confirm you can join and tell you more about the study

Phone interview

A 20-minute phone interview with a genetic counselor about getting this result and what you’ve done about it

Survey

A 20-minute survey, online or on paper

Medical records

Share your medical records with the study team, or allow them to request records from your doctor(s)

Family members

You may be asked to invite family members to join the study

Free genetic counseling

Genetic counseling and education about management and surveillance

Free family testing

Possibility of free cascade genetic testing for selected family members

Possible second phase

Selected participants may be invited to a second phase with additional testing and a free evaluation at the NIH Clinical Center

No cost to participate

There is no cost to participate; all study-related activities are free of charge

Travel costs covered

If travel to the NIH is needed, travel and hotel costs are covered for U.S. participants

Compensation

Up to $20 in electronic gift cards for completing certain parts of the study

I’d like to participate. How can I get started, and how do I get in touch with the study coordinator if I have questions?

You can participate in this study by filling out the survey here.

For any questions, you can also contact the study at:‍

The study team will work with you to confirm whether you’re eligible and walk you through next steps. If you’d prefer to talk it through first, our clinical trial support team is also happy to help you understand your options with no expectation that you enroll.