Changing Our Mindset About Genetic Testing for Huntington’s Disease

B.J. Viau avatar

by B.J. Viau |

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In many previous columns, I’ve shared the statistic that only about 10% of those at risk for Huntington’s disease (HD) have chosen to get predictive genetic testing. This is a brave decision for the few in this small slice of the HD pie, considering that there aren’t any treatments to prevent symptoms from appearing and taking over the body and mind.

The question we’ve always asked in the HD community is: “Do you want to know?”

Data show that most people don’t want to know until symptoms appear and they are diagnosed by a physician. But I believe it’s better to act early. Although treatments aren’t yet available, there are still plenty of nonmedical precautions one can pursue before symptoms emerge.

While this is my personal belief, I think we need to change the question from, “Do you want to know?” to “When do you need to know?” I believe that having individual genetic knowledge will create more power to do something.

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For example, clinical trials for investigative disease-modifying therapies for HD are coming soon for those who are pre-symptomatic or just beginning to show symptoms.

Last fall, PTC Therapeutics announced enrollment for Phase 2 of a clinical trial called PIVOT-HD that targets participants referred to as “Goldilocks,” or those who have only a few symptoms. Hopefully, this is just the first of many studies to come involving those who either are pre-symptomatic or are early along in their symptoms journey.

People who have undergone genetic testing and are linked into the HD advocacy and physician community likely will be the first to enroll in these clinical studies.

If you’ve decided you don’t want to know your genetic status, that’s entirely your right. But I would encourage you to think about whether participating in clinical trials would be important to you and your family.

If any of these clinical trials are successful and lead to treatments approved by the U.S. Food and Drug Administration, you’ll need to know your genetic test results before you can obtain treatment. This brings us back to the same question: When is the right time to know your genetic status?

I’d be surprised if people decided they didn’t want to know if there were a treatment available to do something about it.

I don’t know if genetic testing is something anyone would be excited about when making their New Year’s resolutions, but I do hope that 2022 will bring more positive momentum to the HD community and push all of us to start thinking about “When do I need to know?” rather than “Do I want to know?”

A lot needs to change in 2022 and beyond for all of this to come together. Following are a few topics I plan to write about in future columns. I believe these steps will help to make genetic testing an easier decision in the future, along with additional efforts by patients, caregivers, clinicians, researchers, pharmaceutical companies, regulatory bodies, and insurance companies.

We still need to:

  • Simplify the genetic testing and counseling experience while ensuring that everyone receives top-tier education and counseling about results.
  • Provide good reasons for those who learn that they have the HD mutation to start connecting with HD clinicians and teams on a regular basis before symptoms appear.
  • Find ways for all parties to speak the same language when in conversations with patients and their families, clinical studies staff, and practicing HD physicians.
  • Learn more about the willingness of those who are not yet showing symptoms to participate in clinical trials.
  • Figure out and agree on the best way to measure the potential impact of a treatment, without measuring a symptom like chorea.
  • Offer clinical trials to people much earlier in their lives so that we can truly halt or slow down the progression of HD before symptoms begin.

Have a blessed start to your new year. Cheers to 2022!


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.


Tina Ferner avatar

Tina Ferner

Once my mom was clincially diagnosed with HD in 2016, me and my 2 brothers had decisions to make. My older brother did not want to know and was not interested in finding out. My younger brother did want to know, however was in a position with his job that he did not have insurance nor the means to pay for the expensive tests. I am that person that needed to know, to prepare my family, my work, I thought. I talked to my primary physician who referred me to prominant hospital for tests. I made my appointment, and just by chance, my NP who would do the testing was ill and didn't show up to work. The actually HD doctor, who would be the one reading the tests, came in to speak with me. She explained the NP was out and then proceeded to talk about HD and my reasons behind wanting the tests. Not wanting to talk me out of anything, however making sure I thought through everything...including once the tests are on my health record, no matter the results, I more than likely would not be able to obtain insurance (if I were to move onto another job), any life insurance, nor would my husband. The impact of knowing seemed to be worse than the impact of not knowing and since I am healthy now, I decided I would continue to be aware of my health and just monitoring any changes. Even though I thought I thought everything through (even yelling at my older brother that I couldn't believe he didn't want to find out for his children's sake) and did research, the doctor made me realize that it's not all in the best interest (of everyone) to know at this time. It was a very lucky chance happening, as I am sure the NP would have just taken my blood and done and out in my 15 min time slot, however I was so thankful for this doctor's time. Everyone I know within my circle (family, friends, work) know my mom's condition and the chances of me having HD myself, and I feel they have done their own research to know what may happen down the road. It's a 50/50 chance, so right now I enjoy my mom, enjoy my family and enjoy my health!


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