Rare diseases collectively are common and affect about 25 million to 30 million people in the United States.
Not surprisingly, individuals with rare diseases face significantly higher health care costs.
Expenses per patient per year range from $4,859 to $18,994 for patients with rare diseases, compared to $2,211 for individuals without a rare disease, a new study found.
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"There needs to be greater public awareness of the large and growing medical footprint of rare diseases in society," said Dr. Anne Pariser, senior author and director of the National Institutes of Health's National Center for Advancing Translation Sciences Office of Rare Diseases Research. "Only about 10% of rare diseases have an FDA-approved therapy for their treatment.
The findings underscore an urgent need for more research and earlier and more accurate diagnoses of and interventions for these disorders."
Patients with rare diseases experience costs three to five times greater than those without a rare disease. Additionally, most of the approximately 7,000 to 10,000 known rare diseases disproportionately affect children, adolescents and young adults.
Rare diseases collectively are common and affect about 25 million to 30 million people in the United States. Many of the diseases are genetically caused; can be serious and life-threatening; and are difficult to diagnose and treat. Wide variations of rare disease are prevalent in different health care systems, which researchers said could be due to demographic differences and health insurance. Additionally, some genetic diseases are more common among certain populations.
"Ultimately, to improve the lives of people with rare diseases, we need to find innovative ways, including new technologies, to help shorten the lengthy diagnostic odysseys so many patients and families experience and make more treatments available faster," said Joni L. Rutter, Ph.D., a co-author of the study.
The NIH and the U.S. Food and Drug Administration are addressing the problem through a new public-private partnership announced on Wednesday aimed at accelerating gene therapies.
"They've waited a long time for something to be focused this way to address the incredibly wrenching stories we see all around us of children and adults with rare diseases where we can do a diagnostic test to tell them what they have but beyond that haven't had much to offer," NIH Director Francis Collins said.
With $76 million over five years, the Bespoke Gene Therapy Consortium will fund research into improving manufacturing processes and standardizing methods for preclinical testing of gene therapies. The initiative, which includes 10 pharmaceutical companies and five nonprofit organizations, also will support four to six clinical trials, each focused on a different rare disease.
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Alan Goforth
Alan Goforth is a freelance writer in suburban Kansas City. In addition to freelancing for several publications, he has written a dozen books about sports and other topics.
