Predictive genetic testing for Huntington’s disease became available in the early nineties, and yet not much has changed with regard to how and why people undergo genetic testing and counseling. A Georgetown University study in 2019 found that only 10 percent of at-risk individuals seek pre-symptomatic genetic testing. One main reason was that there are currently no disease-modifying treatments available to slow or stop HD. Others expressed regret over testing due to the inability to “undo” the knowledge of their test results. Once you know, you know.
This can result in a conundrum for a community of professionals who want to engage young people in research, but never at the cost of crossing ethical lines.
My mom was diagnosed with HD in 1994 when I was a teenager. Since then, I’ve had my ear to the ground as a volunteer, non-profit cofounder, community advocate and pharmaceutical professional — participating, listening, and learning whatever I could from the community, whenever and wherever. Beyond those reasons described by the Georgetown study, I hypothesized individuals may be choosing to remain untested because of the lack of options to undergo testing.
The HDSA Centers of Excellence across the USA were generally considered the best options, but there were a lot of hoops people had to jump through, especially if they lived far away from a clinic. Even going to an HD center, at-risk individuals were sometimes faced with pushback from healthcare professionals with questions like, “Do you REALLY want to know if you have HD?” Phrasing any question like this could make people hesitate. It is, of course, appropriate to give this question thorough thought, given the weight of that decision and the various downstream effects its results may have. After all, getting people to understand the pros and cons of testing is the job of the genetic counselor. But this exchange should never be to discourage or encourage that individual to test. The goal is for them to arrive at whatever decision is best for them. So, there can certainly be nuance in how that question is asked. Is it exploring motivation, or is it gatekeeping?
HD providers are generally in consensus that people under the age of 18 should not undergo genetic testing for HD. This is not a law, but more ethical agreement within the community: minors lack the legal and emotional maturity to make an informed decision about testing for a condition that has no disease-modifying treatment. A positive result could lead to psychological distress and could even have lasting consequences on their insurability with regard to life insurance and long-term care coverage. All major HD advocacy and medical organizations strongly discourage predictive genetic testing for minors unless they show suspected symptoms of juvenile-onset Huntington’s disease. Even then, providers will want to have tried a number of other tests to rule out other possibilities first.
We all know that on your 18th birthday, you don’t wake up with a newly-enhanced ability to make incredibly difficult decisions, like testing for HD. Some young people have this ability before they are 18 years old, and some develop this much later in their life.
What will happen to the testing landscape as new disease-modifying treatment approaches continue to reach human trials? What will happen when those treatments are approved? Is there a path we can take to optimize participation to include interested minors as well?
I decided to use some of my community knowledge to bring about a needed change, which turned into HDGenetics.com. HD Genetics offers a service providing HD specific genetic testing and counseling to anyone across the U.S.A. from the comfort of their home. It can be done anonymously, and there is financial aid available so no one who needs testing is excluded because of the cost. And yes, HD Genetics follows the same 18-years-or-older guideline.
Since opening in August of 2022, we’ve had 850 people start the genetic testing process; the main reasons for seeking our services are those cited above. One key learning for us has been the shift in our mindset on how we approach individuals seeking genetic testing by asking them, “Do you NEED to know?” vs. “Do you WANT to know?”
I believe this question is the most important one to ask. People should be testing when they NEED TO KNOW. They may need to know for different reasons: marriage, children, career path, ongoing anxiety, clinical study participation or others, but that’s up to each individual.
This slight shift in how we ask the community about testing is one I feel HD community leaders need to start discussing. A need-based question comes across as less scary and invites the person to really examine and understand their individual needs. As experimental treatments reach clinical trials, some people may be faced with a dilemma that in order to participate in the clinical study, they will NEED to know their genetic test result.
At what point will the “18 years or older” age barrier need to be lifted? There are many other genetic conditions where genetic tests are done with minors without question because there are treatments that can immediately slow, reverse or halt symptoms. At what point does a treatment meet this expectation for the HD community? We continue to learn so much about the impact that HD has on the brain, especially in minors. Through observational studies like CHANGE-HD and PREVENT-HD, we continue to learn so much about the brain, especially in minors, well before motor, behavior or cognitive symptoms arise.
The HD community should not shy away from having these ethical discussions sooner rather than later so that when we have a breakthrough, we are ready to make a swift shift in order to accelerate the opportunity for every person in the HD community to make the best-informed decisions about their options. Even in the absence of a breakthrough, consideration should be given to optimizing the opportunities for younger people who want to participate in observational and other research to do so.