If you have been keeping up with our social media, specifically our LinkedIn page, you will have seen that the Institute for Genomics Education, Workforce & Leadership has been on the road a lot this fall. Our team embarked on a fall conference tour to share knowledge, exchange ideas, and gain invaluable perspectives on the current state of precision health. Here are the top five takeaways from the conferences we attended and what we think the opportunities for precision health will be in 2025:
- Many Barriers to Access Still Remain: Patients Deserve Better
One theme echoed across multiple conferences was the recognition that the current healthcare system is not doing enough for patients, particularly those in the oncology and rare disease communities. At the AGBT Precision Health meeting in September, one patient shared her family’s impactful story which highlighted the remarkable resilience of families living with rare disease, yet underscored a critical point: we need to decrease the financial burdens associated with tests and treatments for patients. At the Annual National Society of Genetic Counselors (NSGC) Conference later that month, the stark reality of patients’ lengthy diagnostic journeys was laid bare. These patients often endure years of consultations with multiple doctors before receiving a definitive diagnosis which takes a significant toll on both quality of life and finances.
The message is clear: to provide the level of care patients deserve, we must reduce barriers and create a precision healthcare system that is more accessible, efficient and affordable.
The message is clear: to provide the level of care patients deserve, we must reduce barriers and create a precision healthcare system that is more accessible, efficient and affordable. These conversations only reinforce the purpose of our work at the Institute for Genomics—breaking down barriers to precision healthcare delivery for the benefit of patients everywhere.
- Health Equity in Genomics Remains an Key Focus
Health equity in genomics was in the spotlight at many conferences this fall. The need for greater access to genomic services and clinical trials in underserved and underrepresented populations was discussed at all of the conferences attended. There were bright spots where some of these challenges are being addressed. Programs that are fostering greater health equity in genomics include the Undiagnosed Diseases Network highlighted at the Annual NSGC Conference and Team SAMBAI, led by Melissa B. Davis, highlighted in her presentation at the Individualizing Medicine Conference at Mayo Clinic in September. However, we heard that access to genomics-informed healthcare across the US remains a challenge. Multiple health systems shared their struggle to fill open genetic counselor positions and find administrator support for new ones, creating a bottleneck in the ability to offer comprehensive genomics care in their community. Opinion leaders throughout the conferences also shared their concerns about the challenges faced by the medical geneticist workforce, citing wait times of over a year at numerous centers and a lack of growth in the profession.
The workforce issues are compounded by the sheer number of people who have chronic diseases, leading to an overwhelmed system where a preventative approach to care is often sidelined. The lack of sufficient genetics expertise, particularly in rural and other underserved communities, calls for immediate action. We need to strengthen these workforces and distribute these providers in more communities to ensure an increased opportunity for genomics-informed care and greater health equity.
We have yet to change our practices to integrate genetics into routine medicine, let alone omics and breakthrough technologies.
- The Evolution of Precision Medicine Requires an Evolution in our Approach
We heard about many new breakthroughs in research and new technologies across conferences. Some especially notable advances were shared at the Individualizing Medicine Conference. Stephen Boppart, with the University of Illinois Urbana-Champaign, gave a presentation on pivotal research in digitalomics utilizing AI-enhanced technologies to visualize tumor cells and revolutionize oncologic surgery. In addition, Razelle Kurzrock MS, FACP, with the Medical College of Wisconsin, presented her team’s research demonstrating improved outcomes for cancer patients when personalized treatments are developed, guided by the molecular characterization of the patient’s individual tumor. However, as omics and other technologies evolve, so do the complexities surrounding their interpretation and clinical implementation. We have yet to change our practices to integrate genetics into routine medicine, let alone omics and breakthrough technologies.
At the Precision Health Information Network Summit in October, the fragmentation of clinical trial sites and data were identified as major obstacles in genetic testing adoption and clinical trial participation. Many conversations focused on how we can infuse point of care solutions with the next steps that care teams need to ensure genetic testing is utilized appropriately. As noted at the US Health Systems Executive Summit earlier in the month, “we need to change the workflows” to ensure that testing is not just available but routinely utilized. A clear example of under-adoption of genetic testing is within the oncology space. Many attendees across conferences echoed the need to urgently address the lack of integration of molecular testing as a care standard for cancer patients. Many different solutions were championed to better integrate precision medicine into routine clinical practice. The ones that seemed to gain the most traction included: greater EHR interoperability and test order integrations to increase provider information and ordering confidence, utilization of at-home testing as a vehicle to increase patient accessibility and convenience, and more innovative point of care solutions for healthcare providers (HCPs) to limit drop-off rates in indicated testing.
- There is a Need for Genomics Education throughout the Healthcare Workforce
There is a growing recognition that the healthcare workforce must adapt to the changing landscape of precision medicine. While health systems executives reported a “paucity of genomically-trained professionals,” even though many genetic counselors report trouble finding positions, the demand for genetics expertise grows. At the Individualizing Medicine Conference, R. John Presutti, DO, shared his team’s latest research, published in August’s Issue of the Journal of Genetic Counseling, which revealed primary care physician (PCP) knowledge gaps on when to refer patients for genetic counseling and testing.
Many PCPs within the study cited that they do not feel that they have access to genetics specialists. Lab directors and physician scientists from across conferences also highlighted experiences with HCPs who have a desperate need for more support and information. In her presentation at AGBT Precision Health, Nancy Cox, PhD, pointed to the “health information disparity”– or disparity in the information that physicians fail to receive– that is ubiquitous when it comes to routine laboratory tests and values. Others cited a need to “change the culture” in some medical specialties where genomic testing is turning previous paradigms on their head. An astute example shared by one laboratory director was that of neonatal intensive care unit (NICU) providers. Previously, NICU providers rarely learned the outcomes of genetic testing for their patients, but now are faced with the challenge of giving the complex results of genomes to families routinely within a patient’s length of stay.
These examples underscore the need for genomics education and support for all healthcare professionals, ensuring that they are equipped with the knowledge to make informed referrals to genetics providers, when needed, and integrate genetic testing into their routine practice.
At this pivotal time when the US Congress is debating the merits of passing legislation that would recognize genetic counselors as CMS providers, the precision health community has an opportunity to help strengthen this necessary workforce.
- Successful Precision Medicine Implementation Relies on Policy Support and Collaboration
One of the most exciting takeaways was the momentum building around policy changes and cross-discipline collaboration in precision medicine. At the Annual NSGC Conference, current president Colleen Campbell (MS’03) shared the 2025-2027 NSGC strategic plan and the crucial role that the Access to Genetic Counselor Services Act (H.R. 3876 / S. 2323) plays in increasing patient access and reimbursement for genetic counseling. At this pivotal time when the US Congress is debating the merits of passing legislation that would recognize genetic counselors as CMS providers, the precision health community has an opportunity to help strengthen this necessary workforce.
Government affairs leaders at many conferences emphasized how we often need to “tell the stories” of how precision health impacts the lives of patients to impact state and federal policy. We urge this community to now rally around the genetic counseling workforce and “tell the story” of the impact that genetic counselors make for patients and their experiences with precision medicine. Please join us in support of this effort by visiting: www.NSGC.org/Policy/Federal-Advocacy.
In the same vein of collaboration, we, as the precision health community, must also reach beyond our bounds to embrace the expertise and knowledge built in other disciplines. One example from the AGBT Precision Health conference was from Jordan Smoller, MS, ScD, who called for the utilization of implementation science to make precision psychiatry available to more patients. This and other calls for cross-discipline collaboration were heard throughout the conference season to improve everything from investment in women’s health research to creating innovative definitions of clinical decision support at the point of care. As they say, it takes a village sometimes, but in the case of precision medicine it will take a network of villages to realize the reality of precision health for all, provided that we continue to drive policy change and foster more collaborative innovation.
Next Steps: Leading the Change We Want to See in Precision Health
As the Institute for Genomics Education, Workforce & Leadership team reflects on our conference experiences, one thing is clear: the future of precision health lies in breaking down the barriers that currently prevent equitable access to care. By addressing workforce shortages, advancing the adoption of omics and helpful technologies, and ensuring better education, collaboration, and policy support, we can pave the way for a future where precision medicine integrates into routine care bringing forth a new era of precision health.
We hope you will join us in shaping the future of precision healthcare—where patients have access to the tests, treatments, and specialists they need to lead healthier and fuller lives. There is more to come from the Institute for Genomics in 2025 towards these efforts. We ask you to join our contact list and follow us on LinkedIn to ensure that you can be part of these efforts.
~ The Institute for Genomics Education, Workforce & Leadership Team