A Study About Unexpected Genetic Test Results and What People Do with That Information

About the Study

This is a research study enrolling adults who received an unexpected genetic test result that showed an increased cancer risk after having genetic testing done for some other (non-cancer reason), or had genetic testing done to determine their cancer risk that revealed increased risk for heart disease.

This study is part of the Genomic Services Research Program (GSRP). It is for people who received an unexpected genetic test result that suggests a higher risk for cancer (or other health conditions) after having genetic testing done for another reason. These surprising results are called secondary results.

Secondary results are not the reason someone had genetic testing but are shared because they may be very important to the person’s health. Most secondary results have to do with high risks for health problems that can be treated or prevented. Many of these results are related to genes that increase cancer risk. If you think you have received a secondary result, you may be eligible to join this study.

The goal of this study is to learn how people understand and act on these secondary results. For example, what health care steps they take, whether they share the results with family, and what barriers they face.

For more information, please visit genome.gov/GSRP.

What the Study Involves

• If you join the study:
  • You will first take a survey and phone interview about your experience with your unexpected genetic results
    • You will be asked about what you did with the information. For example, medical appointments of screening you pursued.
    • You will be asked about decisions you made and why you made them.
    • You will be asked whether you shared the results with your family members.
• Some participants may be invited to the second phase of the study that might include additional testing for you and/or family members. 
  • If testing is done at the NIH and you live in the United States, travel and hotel costs may be covered.
• Participants will also receive:
  • A basic explanation of what their unexpected result means.
  • A checklist of health actions recommended based on the result
  • Possible extra information, counseling or other support to help follow up with the recommended healthcare.

If you are interested in joining or want to see if you are eligible, please contact us by email at: [email protected], or by phone at: 240-408-0447 or visit this site and fill out the information on this form

People who:

• Received a genetic testing result related to cancer risks even though genetic testing was done for a different reason. This may include results related to the genes listed below:
  • BRCA1
  • BRCA2
  • MLH1
  • MSH2
  • MSH6
  • PMS2
  • PTEN
  • STK11
  • TP53
  • If you have a result in another gene related to cancer risks, please contact us and we can decide if you can join the study.
• Speak English or Spanish
• Underwent genetic testing to determine cancer risk and received a result unrelated to cancer, such as an increased risk for heart disease.

Review the full list of eligible genes. 

People who:

• Had genetic testing to get information about cancer risks
• Have a genetic result related only to Alzheimer’s disease and not cancer
• Have a genetic result related to cancer that is labelled as a variant of uncertain significance (VUS) on the lab report