The Fall season brings fresh school planners waiting to be filled in with homework assignments, an array of spiced pumpkin concoctions, football games and, for many genetic counselors and genetics professionals, the National Society of Genetic Counselors (NSGC) Annual Conference. NSGC is the largest professional society for genetic counselors, and the conference is a venue to present and learn about new research and trends, discuss professional issues, and network with colleagues old and new. This year the NSGC conference will be held September 17-21 in the vibrant and lively city of New Orleans, and I’ll certainly be prioritizing some opportunities for enjoying live jazz and seafood gumbo within my busy conference schedule!
The timing of the NSGC conference in the Fall also means that it’s naturally a time for reflection – thinking of what the profession has achieved this year and what challenges lie ahead. When I served on the NSGC Board of Directors for my presidential term in 2021, we would sometimes frame up Board strategy sessions by asking ourselves the question, “What keeps you up at night?” These could be themes that got us excited, issues that had us worried, or (as often is the case with complex professional issues) things that brought on both enthusiasm AND trepidation. Now, in my role as Vice President of Strategy at the telegenetics services company Genome Medical, there are many exciting and challenging trends in the genetics industry that are on my mind, and are synergistic with the content planned for the conference. Here are a few:
Stress & Burnout in the Genetic Counselor Workforce
It is a dynamic time in the genetics and genomics industry – challenging economic times have led to consolidations and layoffs, and many genetic counselors are out of work while others are stretched too thin in their existing roles. As one of the largest employers of genetic counselors, Genome Medical carefully structures our operations and employs a large team of genetic counseling assistants so our genetic counselors can efficiently practice at the top of their license without being overburdened by administrative tasks.
We also prioritize research initiatives that explore genetic counselors’ well being and strategies that can help ameliorate stress and burnout. Colleen Caleshu, our Senior Director of Research & RWD, was awarded NSGC’s Jane Engelberg Memorial Foundation Fellowship to perform a randomized control trial of the benefits of meditation for genetic counselors, including impact on burnout and stress. Colleen will be presenting new results from that trial during two platform presentations at the NSGC conference.
I asked Colleen what she feels is most impactful about her work and what she is most excited about sharing during her presentations: “Many studies have documented that genetic counselors suffer from high levels of burnout and stress but there haven’t been any studies of interventions that might help. I’m excited to share our RCT results on how meditation could be one tool to help improve genetic counselor professional well-being.”
Access to Gene Therapies
Five gene therapies for rare genetic diseases were approved by the FDA in 2023, with many more expected to be approved in the next few years. For many genetic counselors who have been in the field as long as I have, this is truly a watershed moment in genetics, a turning point where we can now offer our patients new hope for treatment. I had the pleasure of speaking with Victoria Gray, the first person to receive CRISPR gene editing for sickle cell disease, about how much her life has changed for the better since her cells were, as she puts it, “edited from sickle cells to super cells.” With two gene therapies now approved for sickle cell disease, there is hope that many patients will be able to experience benefits like Victoria.
But tempering this excitement is the reality that many patients may not be able to access these cutting edge therapies, as gene therapies come with very high price tags, and not all communities have equitable access to medical care and resources. I’m so pleased that Victoria Gray and other patient advocates and sickle cell disease experts will be speaking on this very topic as part of the Beverly Rollnick Memorial Lecture at the NSGC conference. It’s critical that genetic counselors and other healthcare professionals are attuned to the many complex factors and experiences that influence the decision to undergo gene therapy so that we can best help our patients navigate this exciting but complex space.
AI and Genetic Counseling
It’s a bit frightening and overwhelming for some, and intriguing and exciting for others. Yet regardless of the emotions attached to it, AI will most certainly impact the genetic counseling profession. NSGC has already shown a commitment to exploring the use of AI in genetics and genetic counseling, with a Special Interest Group subcommittee dedicated to the initiative on an ongoing basis and an extended pre-conference session in New Orleans that will review the topic in depth.
At Genome Medical we are exploring the use of AI to increase the efficiency of our clinical service delivery in several ways. For example, AI can assist with session scheduling, facilitation of inbound patient inquiries, and matching our patients to clinical trial opportunities based on their genetic diagnoses. One of the most promising uses of AI in making our clinicians’ lives easier is helping to generate the disease or condition-specific informational templates that populate our consult notes. As explained by our Chief Clinical Officer, Kiley Johnson, “With the diversity of disease states and indications we see at Genome Medical, there is constantly a need for new and updated disease information for our summary templates, and we have found that the time pressure of developing these on top of a busy session schedule is a significant source of burnout for our genetic counselors. Generative AI, combined with a robust process for manual validation by our clinical experts, can relieve some of this burden and lead to greater team satisfaction and efficiency.”
RWD and Genetic Counseling Outcomes
In healthcare, real world data (RWD) refers to information generated from everyday clinical practice, and may include electronic health records, insurance claims, test results, and wearable device data. Outside of a randomized control trial setting, RWD can be utilized to assess whether genetic testing and/or genetic counseling leads to patient uptake of recommended health measures such as imaging tests, procedures, and specialist evaluations. As part of the NSGC Industry Council Innovation Summit this summer, Genome Medical presented some of our research on modeling downstream services and utilizing longitudinal multi-center EHR data to quantify the uptake of risk-reducing mastectomy in a cohort of patients receiving cancer genetic counseling. We were able to receive some valuable feedback from a group of research genetic counselors and discuss future collaboration opportunities.
At the upcoming NSGC conference we are excited to present, in collaboration with xCures, additional data on the use of multi-center EHR data to assess the uptake of guideline-indicated risk-reducing oophorectomy after genetic counseling. I’m optimistic about the potential for this type of research utilizing RWD to demonstrate that genetic counseling leads to improved health behavior outcomes, and even make a case for the value of genetic counseling services to health systems and payers. We’d love to understand how others are thinking about RWD in the context of analyzing outcomes of GC services – if you are ‘RWD curious’ please come by our booth to chat!
As I think about all of these themes and look forward to engaging around them at the conference, I also want to acknowledge the many other important issues that are keeping genetic counselors up at night. Federal advocacy to increase access to GC services; justice, equity, diversity and inclusion in our profession; and access to reproductive healthcare are just a few of the other strategic professional priorities that are woven into the NSGC conference and work of the organization. Undoubtedly it’s the things that keep us up at night that lead to new ideas and innovation. I’m looking forward to connecting with other genetic counselors in New Orleans to dig in.
