Rare Disease Awareness Day is a time to recognize the resilience of the 300 million people worldwide living with a rare disease—and to acknowledge both the progress we’ve made and the challenges that remain in ensuring timely diagnoses and access to life-changing treatments.
As a genetic counselor who started my career in the early 2000s, I never imagined we would reach a day when curative therapies would be available for patients and families affected by genetic diseases. Back then, much of our work centered on helping patients understand their risk, manage symptoms, and navigate the complexities of living with a rare condition. While those aspects of care remain essential, today we are also seeing the rise of gene therapies and precision medicine treatments that have the potential to not just manage, but truly alter the course of disease.
At Genome Medical, we recently announced our strategic shift to focus on rare disease clinical care, driven by our deep commitment to addressing the critical, unmet needs of this patient population. We know that for far too many individuals and families, the journey to diagnosis and treatment is long, complicated, and filled with roadblocks. We’re working to change that—because every patient deserves answers, access, and hope.
The Diagnostic Odyssey: Still Too Long for Too Many
For rare disease patients, the journey to a diagnosis can take years—even decades. Today, we know that over 80% of rare diseases have a genetic cause, yet despite incredible advancements in genomic medicine, patients still face an average wait of over five years to receive a correct diagnosis.
This “diagnostic odyssey” is often marked by multiple misdiagnoses, unnecessary procedures, and visits to numerous specialists—all while symptoms progress and treatment options remain out of reach. This delay has devastating consequences, impacting not only a patient’s health but also their emotional and financial well-being.
Expanding access to genetic testing, expert clinical interpretation, and rare disease specialists is critical. At Genome Medical, we are focused on reducing time to diagnosis by bringing genomic expertise to patients and families—no matter where they live.
Gene Therapies: A Revolution in Rare Disease Care
The landscape of rare disease treatment is undergoing a historic transformation. In the past, genetic diagnoses often came with little more than symptom management strategies and supportive care. But today, gene therapies and other precision treatments are changing what is possible.
There are currently more than 2,000 gene therapy trials underway, and dozens of FDA-approved therapies are already transforming lives. Conditions like spinal muscular atrophy (SMA), sickle cell disease, and hemophilia—once associated with devastating prognoses—now have treatments that offer long-term and even curative potential.
As someone who has spent my career in genetics, I still find it remarkable that we can now correct or replace faulty genes, offering patients hope for a future that was once unimaginable. These therapies have the potential to stop disease progression, restore function, and dramatically improve quality of life. However, the promise of these breakthroughs means little if patients can’t access them—an issue that remains one of the biggest challenges in rare disease care.
Breaking Down Barriers: Access and Equity in Rare Disease
Despite scientific advancements, many rare disease patients still struggle to access the care they need due to:
- Geographic disparities – many patients live in areas without access to genetic specialists, forcing them to travel long distances or forgo care altogether.
- Insurance and cost challenges – many genetic tests and therapies remain inaccessible due to high costs and inconsistent insurance coverage.
- Limited provider awareness – many frontline healthcare providers are unfamiliar with rare diseases, leading to misdiagnoses and delayed referrals to specialists.
- Lack of diversity in research – too many clinical trials and genetic studies lack racial and ethnic diversity, creating disparities in who benefits from these breakthroughs.
At Genome Medical, we are committed to bridging these gaps through telehealth, partnerships, and innovative care models that make genomic medicine more accessible, equitable, and patient-centered.
Clinical Trials: Connecting Patients to Breakthrough Research
One of the most promising pathways to treatment for many rare disease patients is participation in clinical trials. Many gene therapies and precision medicines are still in development, meaning that the best or only available treatment option may be through a clinical trial.
At Genome Medical, we help match rare disease patients to clinical trials, ensuring that those who qualify for cutting-edge therapies have the opportunity to participate. By connecting patients with research opportunities, we can accelerate access to promising treatments while also advancing scientific discovery.
However, clinical trial access remains deeply inequitable. Many trials are concentrated in large academic centers, making participation difficult for patients who live far from these locations. We must work together as a healthcare community to expand trial accessibility and ensure that patients of all backgrounds have the opportunity to benefit from new therapies.
The Power of Advocacy: A Lifeline for Rare Disease Families
None of this progress would be possible without the relentless dedication of rare disease advocacy organizations. These groups have played a critical role in:
- Raising awareness and funding for research
- Providing patients and families with resources, education, and support
- Driving policy changes to improve access to care and treatments
For so many patients, these advocacy organizations provide a lifeline—offering not only information but also a sense of community and hope. Their work has helped accelerate breakthroughs in diagnosis and treatment, and we at Genome Medical are honored to stand alongside them in this mission.
Looking Ahead: A Future of Possibilities
On this Rare Disease Awareness Day, we reflect on how far we have come—and the work still ahead. Genome Medical is proud to be at the forefront of delivering rare disease expertise, improving diagnostic pathways, expanding access to life-changing treatments, and connecting patients to clinical trials.
To the patients, families, researchers, clinicians, and advocates who fight for progress every day—we see you. We celebrate you. And we are committed to standing with you as we work toward a future where every patient receives the care, support, and breakthrough treatments they deserve.
