The Genomic Services Research Program (GSRP)

The Genomic Services Research Program (GSRP) is a study of people with "secondary results” from genetic testing. Secondary results are unexpected. They are not related to the reason the person had the genetic test 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 cancer risk and heart conditions. If you think you have received a secondary result, you may be eligible to join this study.

The purpose of this study is to learn about how people react to their secondary result and the actions they take after learning this information. If you or a member of your family have been given a secondary result, please consider partnering with us on this research. Together we hope to understand the health impacts of secondary results on you and your family and discover ways to better support people like you.

We want to know what you do about your result.
If you join the study, the first phase is a survey and phone interview. We will ask you about any changes you made to your healthcare based on the result. We will also ask if there were recommendations you did not follow and why. Finally, we will ask questions about sharing the result with your family members. Following the interview you may be invited to the second phase of the study, which could include extra testing for you and/or your family members at the NIH or in your area. Participating in this study and having testing done at the NIH is free. If we ask you to come to the NIH, and you live in the United States, we will pay for your travel and a hotel.
 

We provide a basic explanation of your result and may offer more.
For instance, you will receive basic information about what your result means. You will also receive a checklist of health actions you should take. Lastly, you may get extra information, counseling, or other support to get the healthcare that we recommend.
 

Help us improve care for future patients.
Results like yours are added to genetic testing reports with the hope that they will make families aware of important health risks so they can receive the healthcare they need. Yet, we know that this does not happen for all families. Therefore, we intend for our results to help more patients benefit from these results. For example, we hope to learn what makes it hard for patients to get care that they need and how healthcare providers can help.
 

Please partner with us.
Our study would not be possible without patients like you! Only 2 out of 100 people who have genetic testing get an unexpected result, so every patient is valuable to our project.
 

People who:

• Speak English or Spanish
   
• Received a genetic testing result related to cancer risk or heart disease  even though they were not having genetic testing to get information about this condition.
  
  This may include people who have results related to the following genes:
   

  ACTA2	CALM3	KCNH2	MYL3	RYR2	TNNI3
  ACTC1	CASQ2	KCNQ1	NF2	SCN5A	TNNT2
  ACVRL1	COL3A1	LDLR	OTC	SDHAF2	TP53
  APC	DES	LMNA	PALB2	SDHB	TPM1
  APOB	DSC2	MAX	PCSK9	SDHC	TRDN
  ATP7B	DSG2	MEN1	PKP2	SDHD	TSC1
  BAG3	DSP	MLH1	PMS2	SMAD3	TSC2
  BMPR1A	ENG	MSH2	PRKAG2	SMAD4	TTN
  BRCA1	FBN1	MSH6	PTEN	STK11	TTR
  BRCA2	FLNC	MUTYH	RB1	TGFBR1	VHL
  BTD	GAA	MYBPC3	RBM20	TGFBR2	WT1
  CACNA1S	GLA	MYH11	RET	TMEM127
  CALM1	HFE	MYH7	RPE65	TMEM43
  CALM2	HNF1A	MYL2	RYR1	TNNC1

  
  
  If you are not sure if your result is included, please contact us and we can decide if you can join the study.
   

Common things that make someone ineligible for the study are:

• Having received genetic testing to get information about risk of cancer or heart disease
• Having a genetic result related to risk for Alzheimer’s disease
• Having a genetic result related to cancer that is labelled on the laboratory report as a variant of uncertain significance