As more rare disease diagnostics and treatments are developed, the challenges for demonstrating safety, efficacy, effectiveness and value, are becoming increasingly evident. This group will elucidate issues in the rare disease environment so that researchers, payers, patients and life sciences companies can effectively address key challenges and more effectively establish the value of new and existing diagnostics and therapeutics.


Rare disease is a rapidly expanding area of research and clinical development. Advancements in genetic understanding and other scientific breakthroughs have led to improved identification of rare conditions and possible pathways for improving rare disease diagnosis and treatment, as well as stratifying relatively common diseases into many rarer ones.

As clinicians are becoming better able to diagnose specific rare diseases, new treatments are becoming available, due in part to greater attention being placed on them attributable to legislative and regulatory incentives for clinical development. However, treatments for rare diseases are typically available at much higher "per patient" cost, which (along with other factors) engender challenges to payers, providers and patients.

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