Advancing Policy, Partnerships and Progress for the Rare Disease Community

Across the United States, more than 30 million people are living with a rare disease,¹ defined as a disease affecting 200,000 people or less.² People living with rare diseases face numerous challenges, including a lengthy time to diagnosis, a lack of treatment options and limited awareness of their conditions. As we reflect ahead of Rare Disease Day at the end of February, we reaffirm our commitment to pioneering innovations for the rare disease community and to addressing these challenges: together, we can shorten the time to diagnosis, improve access to lifesaving care, and advance health care policies that support patients and families.

Accelerate Time to Diagnosis

There are more than 10,000 rare diseases, yet more than 90% do not have an FDA-approved treatment.³ On average, it can take five or more years and visits to seven or more specialists to receive an accurate diagnosis. Many rare diseases are difficult to detect, making misdiagnoses common. Delays in diagnosis can be further exacerbated by geography: the availability of specialists, hospitals, and diagnostic tools varies widely across states. Thus, for most patients, the journey to diagnosis is often long, complex and frustrating, and the possibility of treatment is also uncertain.

Shortening the diagnostic journey begins with some basic changes, such as:

• Expanding access to newborn sequencing and advanced diagnostics: Early diagnosis can have a significant impact on the trajectory of a disease, especially since most rare diseases are diagnosed in children, and 80% of rare diseases are genetic.⁴ Newborn screening panels have been shown to help families get answers more quickly, though they typically cover only about 40 core conditions,⁵ and these panels vary by state.
  
  In addition to expanding newborn screening panels, states also are making progress by ensuring that newborns and chronically ill children who cannot be diagnosed through traditional means can access genetic sequencing tests. Today, more than 20 states provide coverage under Medicaid, enabling faster diagnosis and earlier treatment decisions.
  
  
• Innovating through partnerships: Alexion is a founding member of BeginNGS, a consortium led by Rady Children’s Institute for Genomic Medicine that seeks to accelerate adoption of whole genome sequencing for newborns by identifying thousands of genetic disorders before symptoms appear, where interventions exist.

Expand Access to Care and Treatment

Diagnosis is just one step in the journey – ensuring access to care and treatment is a vital part of improving health outcomes for people living with rare disease. This includes:

• Bridging geographic and infrastructure gaps: Patients in rural or underserved regions often face limited access to physicians, unreliable connectivity, and transportation barriers. Broader use of telehealth, remote monitoring and digital platforms can help to connect patients with specialists and high-quality care.
  
  
• Supporting specialized expertise: Patient advocates have advanced the growth in the number of Rare Disease Centers of Excellence, which provide coordinated, multidisciplinary care, especially in underserved communities. These centers also have helped to raise awareness among health care providers about rare diseases. Many clinicians rarely encounter a rare disease patient, yet recognizing how to ask the right questions and access diagnostic tools can have a huge impact on patient care by reducing bias and improving the accuracy and timeliness of diagnosis.

Advance Health Care Policy and Partnerships

To truly improve outcomes for people living with rare diseases, health care policies must account for the unique challenges of rare disease treatment access, diagnosis and drug development:

• Reduce treatment barriers: Patients are often required to “fail first” on one treatment before accessing the option their physician originally prescribed, or they must wait for their insurance provider to approve a prior authorization. These delays can have serious consequences for people living with rare diseases, leading to relapses or irreversible disease progression. Removing these access barriers is critical, not only to improve care and outcomes, but also to reduce the stress and anxiety caused by prolonged wait times.
  
  
• Improve Medicare access to genetic counseling: Federal legislation such as the Access to Genetic Counselor Services Act would provide Medicare coverage for genetic counseling services offered by certified genetic counselors. Doing so would expand access to expert guidance that is needed to review specialized tests and reduce delays in care.
  
  
• Encourage research and development of rare disease treatments: During the last 40 years, federal laws to encourage investment and innovation in rare disease research have spurred the development of more than 1,200 FDA-approved treatments for rare diseases.⁶ The pediatric rare disease priority review voucher program, the orphan drug tax credit and the ORPHAN Cures Act are among the incentives credited with driving this growth. Yet with more than 90% of rare diseases still lacking a treatment option, these incentives remain critical to fueling innovation and delivering hope to patients.

The Path Forward
By accelerating the time to diagnosis, expanding access to care, and advancing policies that reflect the realities of rare disease, we can change the trajectory for patients and families. Progress will require collaboration among policymakers, health care providers, patient advocates, and industry partners. Together, we can transform the rare disease landscape into one that delivers timely answers, improved access and hope.

At Alexion, we are committed to partnering with the broader community to lead this change. Because for people living with rare diseases, every day counts.