Rare Disease Day is a global movement to turn the spotlight on rare diseases. But more than a single day, it is a call to action for anyone with the skills, technology, policymaking capacity, and most of all, passion to transform the lives of more than 400 million people worldwide living with a rare disease.  

Through the eyes of the rare disease community, we know the heart-wrenching journey of living with a condition that brings with it an often daunting search for a diagnosis and need for effective treatments. These burdens weigh even more heavily on marginalized groups, leading to economic hardship and poorer outcomes for both patients and caregivers.

While the journeys for answers are often filled with uncertainty, we have an opportunity to improve equity and health outcomes for people living with rare diseases by reducing the time to diagnosis, improving access to care, and advancing policies that support a patient-centric healthcare ecosystem.

Rare diseases are inherently inequitable

Rare diseases are often poorly understood, with limited knowledge of their biology and natural history. It often takes a rare disease patient visits to multiple specialists and multiple years to reach a correct rare disease diagnosis. During this time, an undiagnosed or misdiagnosed condition can progress, often with irreversible damage.  Even when a correct diagnosis is made, very few rare diseases have approved treatments.

What’s more, rare diseases affect patients and their caregivers far beyond the clinic. The EveryLife Foundation reports that in the United States alone, the economic burden of just a fraction of rare diseases is estimated at nearly $1 trillion annually, including direct medical costs exceeding $400 billion. Families often face steep out-of-pocket costs, loss of income due to caregiving responsibilities, and long-term financial instability.

Rethinking the approach to the diagnostic odyssey 

The good news is that we are at a moment where our understanding of rare diseases and advancements in science and technology can help shorten the time to diagnosis, further disease discovery, and overcome barriers to care.

One such example includes next-generation sequencing, which holds a key to unlocking this diagnostic odyssey. Referral at early stages of disease has been shown to shorten diagnosis timelines from years to a matter of weeks, saving patients and their families from invasive tests, procedures, and hospital stays. 

As such, critical steps include urgently expanding newborn screening programs at state levels and recognizing genetic testing, such as next-generation sequencing, as a diagnostic standard of care. This is especially important given that most rare diseases have a genetic basis, and many patients diagnosed are children. Early screening and genetic testing can provide a crucial window to explore care options or enroll in a clinical trial if one is available.

Additionally, leveraging cutting-edge technologies like artificial intelligence (AI) can help advance the science of rare diseases, optimize identification and evaluation of new molecules, and support the development of innovative diagnostics and therapies. 

Opportunities to leverage such efforts are advancing in Massachusetts, where Governor Maura Healey has launched the state’s AI Hub, a groundbreaking effort to drive cutting-edge collaboration between government, industry, startups, and academia, with a vision to make Massachusetts a leader in AI innovation.  With AI’s many uses across the life sciences continuum, this effort opens a new door for meaningful impact in rare disease.

And nationally, the National Center for Advancing Translational Sciences is using data analysis to systematically analyze PubMed abstracts, social media, and National Institutes of Health (NIH) funding pertinent to rare diseases to identify potential molecules that deserve more research. These commendable efforts are poised to help identify gaps in rare disease research.

Improving access to innovation and care

Yet even the best solutions are not effective if they cannot reach patients most in need. Often, community clinicians are the front line of care — maintaining the highest level of patient trust — yet lack the resources to optimize referral pathways to the right specialist for rare disease patients.  

Here, the life sciences industry has an opportunity to be a new kind of partner — one that makes investments not only in scientific innovation, but in the very communities that can benefit from them the most. Expanding access to decision support tools that leverage electronic health records can help ameliorate capacity constraints and provide community practitioners with a more robust clinical picture. This is especially important when identifying patterns in symptoms of rare diseases that may overlap with more common conditions.

Through an enhanced collaborative approach by industry, focused on improving clinical practice and coupled with innovative clinical trial designs that seek to embed more care within a patient’s community, healthcare systems and industry can maximize tools to ensure a more equitable healthcare experience for rare disease patients and ensure that location is not a determinant of health. 

Progressing policy solutions for rare disease care

While these advancements offer promise, they cannot close the equity gap alone. Rather, policy action and strategic collaboration are key to removing systemic barriers to diagnosis and care, encouraging research and innovation, and improving patient access to treatments.

The United States has an opportunity for continued leadership. More than 40 years ago, the Orphan Drug Act (ODA) established a policy foundation that paved the road to research and development for rare diseases, which countries around the world have since modeled. Yet more recent legislation in Congress has undermined the ODA’s incentives for treatment research, creating the need for new initiatives.  

One of the most critical legislative solutions in this space is the ORPHAN Cures Act. This bipartisan legislation would protect the significant progress made for rare disease patients by ensuring that the legacy of access to therapies and the substantial investments in research are not put at risk. Without such protections, rare disease drug development would not remain economically sustainable.

Collaboration is key to advance health equity for rare disease

Rare disease patients deserve action on Rare Disease Day and every day. From governments and healthcare systems, to pharmaceutical companies and advocacy groups, we must urgently work together to dismantle systemic barriers to effective care.

Now is the time to act boldly. With more than 30 years of experience in rare disease, Alexion, AstraZeneca Rare Disease, is committed to driving and advocating for the transformation of the rare disease diagnostic journey — here in Massachusetts and around the world. Together, we can ensure that health equity for rare diseases moves from aspiration to reality.