Genetic Testing

By Renee Drellishak

Testing is a tough issue. It is sometimes hard for those who choose to be tested to understand why someone would choose not to, and vice versa, but it is important to remember that we are all different, and different people make different choices.

If you are considering testing, here is a list of pros and cons, to help you in your decision. Support groups and counselors, even counselors in the testing programs, can talk to you about the issues and help you decide if testing is right for you.

The Case For Testing

1. You Can Stop Worrying. If you test negative it's a tremendous load off your mind. This primarily applies if you test negative, which 50% of at-risk people will not. However, in a symptomatic individual a positive test result can ease worries that the symptoms were from something *else*, like MS, Alzheimer's, alcoholism, schizophrenia, etc.. Abusive, antisocial behavior can be explained as a manifestation of the disease, and not something that could be helped. A definitive diagnosis may be better than not knowing where all these crazy symptoms are coming from.

2. You Can Start Preparing. If you test positive you can make plans regarding child-bearing (or, if you already have children, informing them of your test result and/or supplying them with information about HD and testing.), the location and type of house to buy (in an area with family, an abundance of nursing homes, close to a medical center that specializes in HD, two story house or one, easily modifiable for a person with disabilities), health, life and disability insurance, financial arrangements (wills and trusts, paying off debts), etc..

3. You Can Live Your Life To The Fullest. Many people, while not happy that they have HD, develop a greater sense of clarity about their lives. Realizing that time is fleeting, they are able to prioritize their lives, and let go of things that are trivial and insignificant. People who test negative can have these same revelations.

4. You Can Develop a Support-System. There are support groups for people who are at-risk, as well as for people who test positive, are caregivers, or have friends and relatives with HD. It can be comforting to know that you are not alone, and that other people have found ways to deal with this. Many support groups can also provide referrals for respite care, medical and hospice services, tips for caregiving, etc..

The Case Against Testing

1. You Can't Do Anything About It. As of this writing (September 1996) the only method to slow progression of the disease is fetal tissue transplantation, an expensive, experimental, highly controversial treatment for which only certain candidates are considered eligible. There is currently no cure.

2. You Still Keep Guessing. About 5% of people tested test in the "gray" area and are unable to get definitive results. Even if you test positive and know you will develop HD, you don't know when symptoms will start, or how severe they will be.

3. Extreme Emotional Trauma. Both positive and negative results can be emotionally traumatic. It is impossible to know how you will react to news that you have tested positive. All of the preparation in the world can't prepare you for it. "Survivor Guilt" can affect people who test negative but have relatives who test positive.

4. The Risk of Discrimination. If you get tested and it goes in your medical record or on your insurance forms, you can risk being discriminated against for life, health and disability insurance, jobs, etc.. If an insurance company can prove that you lied about your knowledge of your test results while applying for coverage, they can cancel your coverage.

5. Cost. It can be very expensive, particularly if you pay out-of-pocket to keep it off your insurance. In the U.S. the cost of testing with lab fees, neurology, psychiatric and genetic counseling appointments can cost nearly $1000.

All of these factors should be taken into account when deciding whether or not to be tested. Please remember that it is a very difficult, deeply personal choice, and that it is important to respect another person's decision about their own testing, whatever that decision may be.

The author wishes to credit the Huntington's Disease Discussion group for valuable suggestions and feedback, as well as "Genetic Risk: To Test or Not To Test?" by Marvin M. Lipman, MD, Consumer Reports on Health, September, 1996, pg. 107.

For more information on the Huntington's Disease Discussion group, see Mailing List for Huntington's Disease.

Converted to HTML by Renette Davis with permission from the author, Renee Drellishak. Send comments for Renette by clicking here and comments for Renee to renee@nwlink.com

Last updated: Nov. 15, 2010