When I interviewed for my current position, I was asked, “Would you be interested in research?” In my quickest and shortest answer of the interview, I said “No!” and laughed. Now, I am both a clinical genetic counselor and the lead coordinator at my site for an international gene therapy trial. 

I received one lecture on clinical trials while I was a student; I'm sorry to say I tuned out much of that lecture. Ironically — but perhaps some foreshadowing — this lecture was given by my current manager. Genetic counseling students do not need to be experts in clinical trial research by the time they graduate, but as more drugs are being approved for genetic conditions, understanding clinical trials for our patients is crucial. So many patients are part of support groups that are on the cutting edge of information, and being able to explain research data to them is a responsibility we all share.

A year into being a genetic counselor, I started as a research coordinator, and the learning curve was incredibly steep; I was so, so far outside of my comfort zone. At times it was impossible to feel like I was doing things right. One requirement of clinical trial research involves a written record of items you did not do per protocol, which to me, was a list of my failures as a clinical researcher. Realizing how much of my clinical experience can help with clinical trials allowed me to let go of that feeling. I’m able to use my skills to explain the complex concept of gene therapy to our patients, discuss the benefits and limitations of research, and highlight the participants’ adverse events for the principal investigator in a patient-focused manner. Part of our role as clinical research coordinators is being a mediator and advocate between sponsor and participant: we balance between the need to get the FDA the appropriate information to approve the medication, but also the need to protect the participants.

Industry sponsors may have completed research on these conditions, but they rarely have seen patients with these conditions. They’re often in the dark about the risks or logistics of the evaluations that they (or the FDA) want to do. What if the protocol asks for an audiology evaluation, but the population that is being studied has significant sensory issues? Then they might not be able to complete that study without being sedated. Sedation may not be safe for the population; how often they may need to be sedated for the evaluation may not be safe. Or maybe a study site may not have all of the resources needed to complete the sedation in a safe manner. Clinical trial research coordinators also have to be more directive with participants on what needs to be done for the study in terms of the protocol, which can be tough for a genetic counselor. If a participant does not want to do certain study-related procedures, then it is possible they may not qualify for the study or may have to withdraw from the study. 

On the clinical side, genetic counselors see how often there is a lack of access to genetics services. This is exacerbated in the realm of research. There is a saying that “where there are lights there is research.” The places that are dark on the map usually don’t have access to most types of research. Add to that the limited genetics resources and access is even further reduced. Additionally, clinical trials are typically paid for by the company running the trial, but time off work, childcare and the time needed to complete the study evaluations are not reimbursed, making access less equitable. Not to mention, there is a limited window in which patients are “sick enough” to qualify for treatment, but not “too sick” where progression of disease could be confused as side effects of the research. For some conditions, the onset is so quick, the openings for enrollment in research are so small and the advancements and availability of research are too slow to help the patients who need it. 

There are still huge information gaps to fill. Luckily, genetic counselors are adaptable. I’ve been working with my colleagues Farrah Jackson, Carolyn Raski and Sarah Chadwell to create an interactive virtual game to walk genetic counselors and healthcare professionals through the clinical trials process called “Dungeons and Drug Approval.” Individuals will be able to play as people involved in clinical trials, including principal investigator, clinical research coordinator and pharmacist, among others. Each person will have unique information, and they will have to work together to try and get their drug approved. Our goal is to have “Dungeons and Drug Approval” become available to various learning programs and institutions so engaging with clinical trials is not daunting. 

More people are always needed for research, so if you have any interest in being involved with research don’t hesitate to try it out!

---