Points to Consider When Being Told Results of A Genetic Test That is Part of a Research Study


July 15, 2003 C.D. Smith, MD

We respect the right of an adult who has been tested for a genetic disease to be told the results of that test and what is known about the gene.  Since each person can only be told once for the first time, and you cannot change your mind afterward, it is important to think through the consequences of finding out this information.  Here are some points to think about before deciding to find out the results of your genetic test:

1) How much is really known about this gene right now?  Even if I find out I have it, are there still going to be a lot of uncertainties about how I will be affected later?

2) Do I have a feeling or expectation about how the test is going to turn out?  What if I am wrong?

3) Will my life be different if I know I have/do not have the gene?  How?

4) If I find out I have the gene, are there any effective treatments available now that would prevent or help the symptoms?

5) Will this knowledge help in planning for children in the future?  Will it affect other important decisions?

6) Is there a problem or dilemma that I have now that will be solved by learning I have/do not have the gene?  Would knowing this information create a new problem or dilemma?

7) Do I have someone to stand by me and share my feelings with?  Do I have a plan to get help if the news hits me harder than I anticipated?

8) There is a very small chance that the researchers, being human, made a mistake in what I am told.  Can I live with that possibility?

9) How will others who are important to me be affected by this news?  Have I discussed my decision with them?  Do I have their support?  Should someone come with me?

10) How am I going to prepare myself for being told the results?  Will I be in a positive mood before I get the results?

11) Is the research staff available if I have more questions later?  How do I contact them?

12) How do I keep up with changes in knowledge about my family's gene?