Rare Disease Report

Precision Medicine Initiative to Ignore Rare Diseases?

SEPTEMBER 17, 2015
James Radke, PhD
The NIH Advisory Committee to the Director presented the Director — Francis Collins, MD, PhD — a blueprint to build a national cohort of at least 1 million Americans to collect medical and genetic information as part of the Precision Medicine Initiative. The goal is to advance our understanding of our population’s health and biology in order to better develop precise treatments.
Developing precision medicine that target the underlying cause of a disease, such as Kalydeco to treat cystic fibrosis, was the inspiration for the Precision Medicine Initiative first outlined by President Obama during his State of the Union Speech earlier this year.
And drugs such as exon-skipping therapies to treat Duchenne muscular dystrophy, enzyme replacement therapies to treat lysosome storage disorders (eg, Gaucher disease, Fabry disease, Maroteaux-Lamy Syndrome) and gene therapies in development to treat sickle cell anemia and familial chylomicronemia, are all examples of the rare disease community already conducting precision medicine for many many years.
Sadly, rare diseases may not be part of the Precision Medicine Initiative presented to Dr Collins.
In the 102-page report presented to Dr Collins (available at http://www.nih.gov/precisionmedicine/09172015-pmi-working-group-report.pdf), the document notes that even with the collection of information from over 1 million Americans, the large diversity of the population means the focus will likely be on more common ailments and not rare diseases.
The report noted:
The Working Group acknowledges that its proposed accrual methodology would lead to a number of very rare diseases that would not be represented in adequate numbers in the PMI cohort to allow for robust study. According to the Rare Diseases Act of 2002, rare diseases are defined as those affecting <200,000 individuals in the U.S. There are currently more than 6,000 known rare diseases.

Given the size and diversity of needs in studying rare diseases (which have very diverse phenotypes, clinical assessments, treatments, and outcomes), specific disease repositories and recruitment efforts independent of the PMI-CP are likely to be the ideal method to study rare diseases.

In other words, the rare disease community are still on our own.

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