Global Genes and Child Neurology Foundation Release Principles for Rare Disease Access and Care

Rare Daily Staff

Global Genes and the Child Neurology Foundation released a report outlining a set of guiding principles for rare disease care and access that the groups said are universally relevant to all patients with rare diseases.

The report grows out of the groups’ Rare Access to Critical Therapies collaboration begun in 2018. It is based on multi-stakeholder workshops and rare disease landscape and literature evaluations led by the collaboration, which involves leading patient, provider, research, and industry organizations.

The collaboration was formed to address the unmet need and variability in care for patients with rare disease, and to ensure the rare disease patient perspective was considered as part of broader public discussions and policy that could improve patient access to therapies.

The report highlights five guiding principles of rare disease care and patient access that it said is universal to all rare disease patients, across markets. It calls them a set of “fundamental expectations” that all health stakeholders should acknowledge and act upon. They include:

• Timely and sustainable access to diagnostic testing that rapidly informs appropriate patient care and treatments
  
  
• Timely and sustainable access to the highest quality care and most effective treatments that address underlying disease or key symptoms
  
  
• Value assessment processes that provide timely and sustainable access to current and future therapies for which patient-centric benefit is the deciding factor
  
  
• Fulfilling quality of life while lessening the disease burden for both patients and caregivers
  
  
• Standards of care that reflect acceptance of each patient’s uniqueness and equality for all patients regardless of disease rarity

“The aggregate impact of rare diseases is as significant as diseases considered national priorities, though individual patient impact is often more profound. As such, our approaches to achieving each guiding principle must consider the efficiencies of broader solutions, while not missing the variability of individual patient needs,” said Eric Faulkner, the report’s lead author and vice president of precision and transformative medicine at Evidera, and executive director of the Genomics, Biotech and Emerging Technology Institute of the National Association of Managed Care Physicians. “This report shows that there remains much work to do to strike the right balance for rare disease patients, despite breakthrough areas of progress.”

Photo: Eric Faulkner, the report’s lead author and vice president of precision and transformative medicine at Evidera, and executive director of the Genomics, Biotech and Emerging Technology Institute of the National Association of Managed Care Physicians