The path to genetic diagnosis for rare diseases is fraught with challenges, from financial barriers to provider hesitancy and limited patient access to specialized services. This article summarizes key takeaways from our Fierce Biotech webinar: Bridging the Diagnosis Gap for Rare Disease Therapies. The discussion brought together leaders from Genome Medical, Tenaya Therapeutics, and Pharming to explore challenges in accessing a genetic diagnosis for rare disease patients and strategies to drive progress.
The Importance of Genetic Diagnosis
Genetic testing guides treatment decisions and unlocks therapeutic opportunities for those with rare or undiagnosed conditions. Despite advances in genetic testing, access to timely and accurate genetic diagnoses remains limited due to several key barriers:
- Provider Hesitancy and Knowledge Gaps – Many healthcare providers lack confidence in ordering genetic tests, understanding test results, or counseling patients about their implications.
- Financial Barriers – Limited insurance coverage and high out-of-pocket costs deter patients from pursuing genetic testing.
- Limited Access to Genetic Counselors – Many community-based physicians do not have access to genetic counseling services, making it difficult for patients to navigate testing and treatment options.
- Underutilization of Genetic Testing – Even in well-established conditions like hypertrophic cardiomyopathy (HCM), genetic testing rates remain low, affecting early diagnosis and potential therapeutic interventions.
- Delayed or Missed Diagnoses – Many patients endure a prolonged diagnostic odyssey, seeing multiple specialists before genetic testing is ever considered.
Strategies for Expanding Access to Genetic Testing
To overcome the challenges discussed above and improve the rate of timely genetic diagnosis, stakeholders across the healthcare ecosystem must adopt targeted strategies. These include improving education and support for providers, addressing systemic barriers such as cost and reimbursement, and leveraging emerging technologies. Below are five key strategies to help expand access to genetic testing for rare disease patients.
- Enhancing Provider Education and Support
- Training programs and workshops tailored to non-genetic specialists can improve confidence in ordering and interpreting genetic tests.
- Telehealth-based genetic counseling services provide scalable solutions to support community-based providers with genetic testing. See what providers say about these services.
- Sponsored genetic testing programs offer structured test panels and pre/post-test counseling, reducing provider burden and increasing diagnostic yield. Here’s a recent case study about one such program.
- Addressing Financial and Reimbursement Challenges
- Advocacy efforts should focus on improving insurance reimbursement for genetic testing and counseling.
- Public-private partnerships can help subsidize the cost of testing or sponsor genetic testing programs, making it more accessible to underinsured or uninsured populations.
- Employers and health systems can incorporate genetic testing into routine care models to facilitate coverage and cost-sharing.
- Leveraging Technology and Telehealth Solutions
- Telehealth services can connect patients with genetic specialists regardless of geographic location.
- AI-driven decision support tools can help providers determine the most appropriate genetic test for their patients.
- Remote genetic testing kits using saliva or buccal swabs eliminate logistical barriers, allowing for greater patient participation.
- Strengthening Patient Advocacy and Community Engagement
- Partnering with patient advocacy groups amplifies education efforts and promotes genetic testing as an actionable step toward care.
- Direct-to-patient outreach initiatives, such as digital campaigns and community workshops, can raise awareness about the availability of genetic testing and encourage proactive testing.
- Involving patient voices in trial design ensures that real-world concerns and quality-of-life measures are considered in therapeutic development.
- Aligning Genetic Diagnosis with Therapeutic Development
- Early and widespread genetic testing is critical for identifying eligible patients for clinical trials, expediting drug development timelines.
- Natural history studies supported by genetic data help refine disease characterization and facilitate targeted drug design.
- Real-world data from genetic testing programs can improve understanding of disease prevalence and patient subgroups, guiding regulatory and commercial strategies.
Looking Ahead
As the field of genetic medicine continues to advance at an unprecedented pace, ensuring equitable access to genetic diagnosis remains a pivotal challenge. Overcoming barriers to testing will not only empower patients and improve clinical care but also accelerate the development of precision therapies that can transform lives. Through collaborative efforts among healthcare providers, biotech companies, advocacy groups, and policymakers, we can bridge the genetic diagnosis gap and create a more inclusive and effective healthcare ecosystem for rare disease patients.
The momentum behind genetic medicine and rare disease innovation is stronger than ever. By investing in education, supporting access to care, and building strong partnerships, we can dramatically improve the diagnostic journey and bring life-changing therapies within reach for more patients.
