It takes far too long for a rare disease to be diagnosed. Here’s how that can change

Rare diseases are an emerging global public health priority, with a staggering impact on more than 300 million people worldwide who are living with them. There are more than 6,000 rare diseases: 72% of these diseases are genetic and 70% of those genetic rare diseases start in childhood.

In recent years, we’ve seen advances in the treatment of rare diseases and are confident that the future of treatment in this space is bright, with innovative therapies being progressed that have the potential to truly change patients’ lives.

However, as with any disease, before patients can access life-altering treatment they must first receive a diagnosis. For people with rare diseases, this can be a particularly significant challenge. The unfortunate reality is that rare diseases too often go undiagnosed for extended periods of time because patients, families and physicians have limited awareness of the disease and symptoms may not always be evident to healthcare providers who have never encountered it.

The long road to diagnosis presents one of the greatest challenges affecting the health, survival, well-being and the very identity of people affected by a rare disease and their families. Delays in diagnosis can lead to inappropriate disease management as well as disease progression. Patients are often misdiagnosed when symptoms present similar to another disease and a misdiagnosis can lead to unsuitable interventions for the underlying disorder. For children with a rare disease, shortening the average six- to eight-year diagnostic journey could be the key to a longer, healthier life.

In 2018, Takeda, Microsoft, and EURORDIS-Rare Diseases Europe joined forces to launch the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease (the “Global Commission”) and bring the rare disease and technology communities together to solve this complex global problem.

As co-Chairs of the Global Commission, we believe it is essential to raise awareness of the unique challenges faced by those living with a rare disease, including those who endure a years-long diagnostic odyssey. In more than 40% of cases, patients receive a misdiagnosis more than once, as too often, “rare” can mean “off the radar” to healthcare providers. The Global Commission believes that technology provides an unheralded opportunity to help overcome the barrier of “rare.”

This challenge cannot be addressed by one entity or industry alone; embracing a public-private partnership and utilizing innovative technology solutions are imperative to ending the diagnostic odyssey faced by rare disease patients and their families. The Global Commission convenes a diverse group of patient advocates, physicians, technologists and other experts in the field who provide expertise to solve challenges that delay diagnosing patients.

Last year, we announced actionable recommendations addressing distinct challenges within rare disease that technology is uniquely equipped to solve. The recommendations identify concrete policy and technological actions, mobilizing diverse actors to build on genetic and digital advances.

Three pilot projects

The Global Commission is implementing three cutting-edge technology pilot projects that address distinct barriers to the diagnosis of rare diseases: 1) A multifactorial machine learning system to recognize patterns and symptoms common to rare disease; 2) Virtual tools to deliver genetic assessment and counseling remotely to patients and primary care physicians; and 3) A blockchain-based patient registry to give patients and their families control of their health records. Together, these innovative projects have the potential to redefine the diagnostic process for rare disease patients, and significantly shorten the time it takes to give patients a diagnosis and ultimately a path forward.

Additionally, the Global Commission is working to develop a common technology framework across its pilot projects to identify synergies, promote further collaboration, and provide a resource for other projects around the world working to solve similar problems. The hope is to empower other experts working in this field to share learnings and work together to positively impact the diagnostic journey.

Beyond our actionable recommendations and technology pilots, we believe it is essential that global policy frameworks for rare diseases be recognized as an international public health priority. The Global Commission recommends specific policy actions that support and enable the solution pathways including Centers of Excellence, Data Sharing, Genetic Screening, and Privacy. The Global Commission strongly supports the inclusion of rare diseases in the United Nations Political Declaration on Universal Health Coverage, which was adopted in September 2019, the first mention of rare diseases in such a UN political declaration. Established global policies will improve efficiency, reduce costs, and increase patient access to necessary resources to shorten the time to reaching an accurate diagnosis.

The work of the Global Commission not only offers the potential to impact the course of rare diseases for patients around the world, but we hope that it will act as a beacon and a pathway to transform the current approach to all diseases, and even to general health.

Our goal is to inspire concerted action and mobilize diverse actors – within and outside the health field – to work collaboratively toward a shared ambition to accelerate time to diagnosis for rare disease patients. We look forward to sharing our recent progress and findings mid-May at the European Conference on Rare Diseases & Orphan Products (ECRD) 2020 Stockholm, organized by EURORDIS, and at the National Organization for Rare Disorders (NORD) 2020 Living Rare, Living Stronger Patient and Family Forum in Cleveland.

As champions for people living with a rare disease, we hope you will join us in advocating for patients and their families by working to end the diagnostic odyssey and transform the lives of millions of children and their caregivers around the world.