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Technology offers new tools, challenges for rare-disease patients


 

REPORTING FROM NORD SUMMIT 2018

– Genetic developments may create a new medical model for patients with rare diseases and the doctors who treat them, according to Marshall Summar, MD, chief of genetics and metabolism at Children’s National Medical Center in Washington, D.C.

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In an interview at the NORD Rare Summit, held by the National Organization for Rare Disorders, Dr. Summar and Peter L. Saltonstall, president and CEO of NORD, discussed hot topics in the rare disease field. Those include new knowledge of the natural history of rare diseases, made possible by the creation of patient databases and the expansion of genetic technology. In addition, some DNA therapies “are finally crossing the finish line,” said Dr. Summar. That means clinicians will be looking at some rare diseases as acute conditions rather than chronic.

However, patients with rare diseases continue to face challenges in terms of the need for prior authorization and for drug access. One of NORD’s missions is to help patients access treatment. “We are seeing these prior authorizations take weeks or even longer,” Mr. Saltonstall said – and meanwhile, patients aren’t receiving therapy.

Visit rarediseases.org for more information about NORD’s ongoing research and advocacy efforts.

Dr. Summar and Mr. Saltonstall had no financial conflicts to disclose.

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