Understanding the Risk to Empower Patients
Laura Duncan, M.S., C.G.C., is a clinical genetic counselor who has worked with patients at the Vanderbilt University Medical Center HD Center of Excellence over the past five years. She has recently transitioned her work to clinical research at Mayo Clinic in Florida, focusing on increasing access to genetic counseling and testing.
There are many motivations for an individual at risk for HD who presents for genetic counseling and/or testing. Over the years, with advances in research, hope to be involved in finding therapies for HD has seemed to be at the forefront of many of our patients’ minds. Other times, people may have motivations such as family planning, being able to inform their children of their risk status, financial planning, or determining if their mental health or physical concerns are early symptoms.
As our HD research and clinical community works to understand the progression of symptoms, including when they begin to manifest, we need to continue to support the patients who wish to understand their HD risk status, especially when they are concerned they have early/undescribed manifestations.
For young adults, this support is especially important. Many are facing transitions (graduating from high school and entering college, leaving school to enter the workforce, starting a romantic relationship, or growing a family) and have concurrent concerns such as “brain fog” or changes in their anxieties, mood, or abilities. How do we help tease out if this could be a sign of a repeat expansion, the “normal” response to change, or even a part of their journey because they grew up in a family impacted by HD? Even with genetic test results, can we answer this question in the context of a repeat expansion… or in the context of a negative result?
When some young adults present for testing, clinicians (including genetic counselors) should strive to understand these concerns and help the patient evaluate how results will (or will not) impact next steps, including management. I’ve worked with many patients who hoped their testing status would let them understand if their “symptoms” are HD. I’ve had several patients who thought they were symptomatic due to episodes of anger or difficulty with their new school system, who tested negative.
The difficulty with using genetic results to understand what is an early manifestation of HD is that right now, while we await further research, we are still understanding what “is” or “isn’t” HD. People can have anxiety that is not related to HD even if they have a repeat expansion. People can have “brain fog” or forgetful moments because of life stressors and not necessarily due to a repeat expansion.
No matter what a patient decides about learning their gene status, we can support these patients and address their concerns. We can tap into resources in the HD community, especially those geared towards young adults, discuss options such as counseling or medication management, guide young adults into resources that are within their college campus or may be supported by their employer. We can surround at-risk young adults with support through the clinical or research team. In addition, these supports should be discussed during the pre-test counseling provided for those who are interested in testing.
As a genetic counselor, I can’t answer, “Is this the right time for me to be tested?” for any given patient, but I can walk them through the impact of testing, their protections, and their risks. Are they “ready” for either result, repeat expansion or no repeat expansion? Are they supported for either result? (People may assume a patient with a negative result does not need support but I argue that support for all individuals impacted by HD is imperative regardless of their risk or gene status).
Clinician goals of pre-test counseling (outside of the “genetics 101” and family history gathering) should be to listen to a patient’s concerns, while providing support and anticipatory guidance to help facilitate decision-making for those interested in testing.
During these discussions, we talk a lot about risk, something I have thought a lot about from my work with the HD community. We may only consider risk to be the chance for someone to inherit a repeat expansion, a straightforward number I can calculate by looking at a family tree. But individuals who present for pre-test counseling are taking a risk by walking in that door. We ask patients to answer questions or consider scenarios related to their potential test results. We ask them to tell their story and the story of their family. We ask them to talk about their health history, including their mental health history.
These questions may lead to vulnerability, to asking someone to open up doors to memories that may have been closed for years. Patients seeking their gene status may also be opening up the risk for discrimination (though there are protections, they don’t cover all aspects of someone’s life). Each patient who wishes to discuss genetic testing is taking a risk, and this is where clinicians can continue to support our patients with the types of resources described above.
As we are able to better document the progression of HD, we may be able to provide more accurate risk assessment for our patients, but as we continue to work towards this knowledge, it is important to know we can support individuals at risk for HD on their journey no matter when or if they wish to pursue their gene status.
While we hold hopes of research interventions and eventually clinical interventions, we need to continue to grow our understanding of the natural history of HD, not only for management, but to empower patients to explore the impact of testing related to their mental health or medical concerns. This helps build the path to facilitate their biggest decision — when is the right time to test?
