It’s Time for a New Huntington’s Disease Genetic Testing Option

I started doing a lot of research about genetic testing for Huntington’s disease (HD) in 2019, after years of hearing stories from people in the community who’d had poor experiences. I came to the conclusion about a year into my research that if I didn’t try do something about it, things weren’t going to change.

Undergoing Huntington’s disease genetic testing is a bit of a rite of passage for family members. Going from being at risk to getting tested is an emotional experience that affects everyone in an individual way. It’s something that sets HD apart from many other rare diseases because it’s a decision each person must make on their own, as genetic testing is typically only available to people after they turn 18.

I’ve written a lot about genetic testing in many of my previous columns, some of which reference a 2019 study that found that up to an estimated 90% of the more than 200,000 people at risk for HD in the U.S. choose not to undergo presymptomatic testing. The main reason people in the study cited for choosing not to test is because there currently isn’t much you can do to stop the disease from progressing.

However, new investigative treatments are in clinical development that hopefully will help to change this reality. If this happens, I suspect we’ll see an influx of people seeking genetic testing, but I don’t believe our current healthcare infrastructure will be able to accommodate all of them efficiently.

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Generally, there are currently two ways to undergo Huntington’s disease genetic testing in the U.S. The first is to go to your local primary care or family medicine doctor and ask to be tested. These healthcare professionals typically don’t know much about HD, but they have Google and can figure out how to order the test. The experience doesn’t typically result in HD education or genetic counseling.

One typically pays just for the test, which can range from $250 to $600, depending on the genetic laboratory the doctor uses. Results typically take three to four weeks. How you receive the results varies, and may be from a phone call, a letter in the mail, or a follow-up appointment. I hear the most confusion from people who use this option because often the doctor on their team doesn’t understand what the genetic test results means in terms of HD. This factor alone is a bit scary unless you are well educated in HD genetic terminology and education.

The second way is through one of the 55 Huntington’s Disease Society of America (HDSA) Centers of Excellence in the U.S. These centers provide the opportunity for people to meet with the members of an expert team typically consisting of a genetic counselor, social worker, psychiatrist, and neurologist. The process is very thorough and includes knowledge about the clinical trial and treatment horizon.

Although the experience at HD centers is preferred, it does have some drawbacks. Most HD centers still require people to have at least one of their sessions in person, which isn’t easy for those who live far away. Because most centers are part of large academic healthcare systems, it’s hard to provide testing anonymously, which many people at risk prefer. Also, one study found that the average cost of testing at HDSA centers, as of 2019, was $1,157, which isn’t affordable to many.

Both options have pluses and minuses. I started asking myself if these were the only two options or if there was another way that might combine the positives of the two and eliminate the negatives. Over the past three years, providing the Huntington’s disease community with another option turned from a curiosity to a passion for me. After stepping away from my formal role as board chairman of the Huntington’s Disease Youth Organization, I dedicated most of my HD time and focus on this new project. I’ve spent hundreds of hours talking to HD stakeholders and genetic experts to learn about the system and how another option might be created.

I’m happy to say the project is going live this month, so you’ll hear more about it from me soon. It’s an opportunity for people to speak with HD experts anonymously, affordably, at their own pace, and without having to leave their home. I’m hopeful it will provide a new, positive option for the many people still at risk.

In all circumstances regarding your decision to undergo genetic testing, always seek guidance from your healthcare professional team or find a genetic counselor through the National Society of Genetic Counselors.

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.