Genetics - Pre-symptomatic Testing
Pre-symptomatic testing for Huntington's disease, also known as predictive testing, is a bit more complicated than diagnostic testing. Pre-symptomatic testing happens when people who know they may be at risk for HD but who do NOT have symptoms seek testing to learn whether they will get HD in their lifetimes.
Many people who are at risk for HD do not seek pre-symptomatic testing, preferring not to know their future. However, for those who choose to be tested, research has shown that learning their test results after going through a pre-symptomatic testing protocol enables them to cope with the information better than not going through the protocol.
The pre-symptomatic testing protocol isn’t in place to make it difficult for people to get the information they want, but rather to provide support and to encourage thought and discussion about important issues in order to help people feel ready to learn this very significant information.
Some of the issues to be explored include:
- What is your life experience with HD?
- Are you testing for yourself and not feeling pressured by others to do so?
- How would the results change your life? Would you do things differently? (For example issues around education, marriage, having children, setting life priorities, etc etc)
- How does your family feel about you getting tested?
- How do you feel you would react if the results are positive? Negative?
- Are their any other major life stressors going on at the same time you are seeking this information? (For example, death of loved one, divorce, pregnancy, or other major life changes.)
- Why are you interested in getting this information now?
There are many, many reasons people choose to test or not to test. Just a few reasons people choose to test can include: alleviating anxiety about needing to know, planning for the future (marriage, children, and education), creating a support system, and living life to the fullest.
Some reasons people choose not to test include: there’s no cure, not emotionally prepared for results or testing process, not wanting to know the future, conflict with loved ones about testing, and concern about discrimination. Of course this is just a partial list. Everyone approaches testing with a personal set of issues which can be explored as part of the genetic counseling process.
The pre-symptomatic testing protocol involves meeting with a genetic counselor, neurologist, and also somebody who can provide emotional counseling and support (therapist, social worker, etc) before testing is performed. This process may require three to four visits, and the results are given in person.
This process also allows time for people to think through the issues thoroughly. Some people change their minds after starting the process, choosing to delay the test or not to do it at all. We remind people seeking this testing that once you learn the results, you can never not know your status again. There are studies suggesting a higher rate of depression in people who know their positive gene status -- but there are also many amazing people who have used the knowledge that they will develop HD in very positive and inspirational ways.
This is obviously a very emotionally charged issue that everyone handles differently. If you’d like to learn more about pre-symptomatic testing, here are some sources for more information, starting with a video presentation by our genetic counselor, Mara Sifry-Platt:
Other sources of helpful information include:
- Living at Risk
- Facing Life with a Lethal Gene
- HD: Protocol for Presymptomatic Testing
- Predictive Testing for HD: Stories
And for additional information about other issues and types of genetics testing for HD, please see: