Introducing a New Genetic Testing Option for Huntington’s Disease
Columnist B.J. Viau shares the platform he created for the Huntington's community
In my previous column, I wrote about the need for new genetic testing options for people at risk for Huntington’s disease (HD), and teased a new passion project I’ve been working on. I’m excited to share a bit more about my endeavor in hopes of helping the HD community.
In 2018, when I was on the Huntington’s Disease Youth Organization (HDYO) leadership team, I texted my partners about the possibility of hiring a genetic counselor. I was looking into the future and envisioning a growing demand for genetic testing, based on the idea that clinical trials would eventually be available to people who are gene-positive for HD but not yet symptomatic.
For a small nonprofit, it was a bit of a stretch. With a thin budget, we already had a full-time youth social worker on staff. Even though I didn’t get a bite from the HDYO team, I continued digging into the genetic testing and counseling landscape.
Beyond my own genetic testing experience in 2010, I didn’t know much about the industry, so I tried to learn everything I could. I concluded that, although testing for HD is a personal and emotional decision, it should be a relatively simple process that’s easy to replicate.
Unfortunately, I learned that the process can vary widely, depending on which clinic someone goes to for testing. For people facing the coin flip of whether they have a fatal condition, more uncertainty isn’t fair. I decided the process needed a face-lift.
I tried to come up with a solution, with the main goal of decentralizing genetic testing and counseling. A hub-and-spoke model would offer the same experience to anyone in the U.S.
The first major step was learning that the HD genetic test could be performed with identical accuracy using saliva or blood. I identified a laboratory, Prevention Genetics, that was already conducting HD testing by mailing spit kits, rather than making people travel to provide a blood sample. Major win No. 1!
The second major step was finding a genetic counselor who would dedicate 100% of their professional time to HD. I wanted this person to be knowledgeable about everything from HD genetics to clinical trials, advocacy organizations, and helpful resources — a name and face the HD community could trust and rely upon.
I was blessed to be introduced last year to Wes Solem, who was completing a Master of Science in genetic counseling at the Johns Hopkins Bloomberg School of Public Health and was in search of a job. I couldn’t believe my ears when he told me his thesis was titled “COVID-19 Impact on Genetic Counseling for Huntington’s Disease via Telehealth.” Wes and I really clicked and have formed a partnership over the past eight months. Major win No. 2!
A new resource for the HD community
I’m pleased to finally introduce HD Genetics, a new platform that allows those at risk for Huntington’s disease to receive genetic counseling and testing from the comfort of their home. Counseling services are all provided by Wes via video call. We provide patients with flexible scheduling and various accommodations, such as being able to test anonymously using a pseudonym.
Currently, HD Genetics is able to offer services to people in Arizona, Colorado, Kansas, Maryland, Mississippi, Missouri, Nevada, New Jersey, New York, North Carolina, South Carolina, Texas, West Virginia, and Wisconsin. But the list will keep growing as we receive licensure approvals, and we expect our services to be available in all 50 states by the end of the year.
For more information about how the service works, you can visit the HD Genetics website or feel free to reach out to me. The end goal is to make sure each person is equipped with accurate knowledge and resources to empower them on their HD journey.
Whether we’re connecting people to clinical care, clinical trials, or advocacy resources, I hope HD Genetics can be a compass for anyone who needs support. This is just one option, and it won’t be right for everyone.
I want to encourage anyone who sees a problem worth solving: Keep pressing toward positive change. Sometimes the best answer to your own frustrations is fixing it yourself. If I can provide any motivation or serve as a sounding board on the problems you want to solve, don’t hesitate to reach out.
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.
Gratulation! What a huge step ahead. Strange that HDYO did not support You.
For many people, testing positive for Huntington’s Disease doesn’t give them a diagnosis. For them it simply means they will eventually get the disease, however, they NEED a diagnosis. Under the current diagnostic criteria, you must be symptomatic to have that diagnosis, meaning you must have chorea or some other visible symptoms. Also, this article does not go into the costs involved, meaning that many will shy away from even inquiring. Also, many people face obstacles with genetic testing such as in some areas testing is not available unless symptoms are showing which doesn’t allow people at risk to plan. While this is a step forward, it looks like the cart is being put before the horse.
Kevin - not totally sure I understand all of your concerns. We can't solve all problems with one initiative, but as I wrote in this article if you see a problem in front of you, do something to fix the problem and I am happy to help you. Please feel to reach out directly if you'd like some more clarity on HD Genetics and it's hope to provide a new option to the many who need it. thanks for reading!