As I briefly touched on in my previous column, “Opportunities for a Better Genetic Testing Process,” the testing process in the Huntington’s disease community is a bit like the Wild West.
Depending on your location, there are so many variables that make going through testing way more stressful than it needs to be. Unfortunately, these variables can endanger the future mental and emotional health of individuals going through this monumental life experience.
One variable you can control is requesting a genetic counselor (GC) to guide you through the process. This will make a world of difference from start to finish.
According to the National Society of Genetic Counselors (NSGC), “genetic counselors are professionals who have specialized education in genetics and counseling to provide personalized help patients may need as they make decisions about their genetic health.” This means they can talk to you before, during, or after your genetic testing process in hopes of guiding you through with education, support, and connection.
I have seen many unfortunate examples in the private Facebook Huntington’s disease groups lately where group members go through testing without a genetic counselor and receive results with no explanation.
These group members then turn to other group members for answers, which is always a cluster of opinions and thoughts — some of which are accurate, and many of which are inaccurate. Nobody posts inaccurate information on purpose, but there is a general lack of genetic education across the Huntington’s community.
At a high level, many describe Huntington’s genetics as black and white. You either will or won’t develop symptoms sometime in your life, and you either will or won’t pass it on to your children. This description works in context, but when a person seeks individualized information, it can be misleading.
Your results don’t provide you with a “yes” or a “no.” They provide you with your CAG repeat numbers. These numbers are just a piece of the puzzle in learning if and/or when symptoms could develop. To make it even more confusing, there is also a range of CAG repeats that professionals call the “gray area,” meaning it’s not quite clear if you will or won’t develop symptoms. You can read more about this at one of my favorite websites, HDBuzz.
Your genetic counselor can talk you through these results and provide context around your CAG numbers. Finding a GC is always recommended when you are just starting to think about testing. Ask them questions about the process before you begin to make sure you have all your ducks in a row. They are trained to help you!
Every Huntington’s Disease Society of America Center of Excellence in the U.S. either has a genetic counselor on its team or it can refer you to one nearby. I suggest finding one with Huntington’s disease experience, like with any doctor. The NSGC has a directory you can use to find counselors based on your location, and it even offers an option for finding a GC that meets via telehealth.
Once you find a GC, use them as your rock throughout the process. Ask them questions, seek advice, and make sure they share the process, plan, and meaning of the results with you and your family.
When I went through testing over 10 years ago, I didn’t use a genetic counselor, and I regret it. That’s why I am encouraging others to learn from my misstep. These professionals can provide major value to all the at-risk individuals seeking testing.
For additional information, Dr. Martha Nance gives an overview of genetic testing in a video produced by the Huntington Study Group.
I would love to read about your testing experiences, good or bad, in the comments below.
Note: Huntington’s Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Huntington’s Disease News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to Huntington’s disease.
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