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LK 101
FDA advancing precision medicine with precision FDA: a collaborative informatics community to explore regulatory science
LK 101
FDA advancing precision medicine with precision FDA: a collaborative informatics community to explore regulatory science
In 2010, for the first time ever, the human genome was used to diagnose and treat (1) the life threatening disease of a young boy that had baffled scientists for years. In a desperate attempt to figure... Read more

Description

In 2010, for the first time ever, the human genome was used to diagnose and treat (1) the life threatening disease of a young boy that had baffled scientists for years. In a desperate attempt to figure out what plagued Nicholas Volker’s intestinal inflammation doctors sequenced his DNA. What they found was a mutation that dictated a bone marrow transplant. Nicholas is now 11 and leading a healthy, happy life.

There are many more success stories similar to Nicholas’, which have popped up over the years, where lives have been saved thanks to next-generation sequencing technology. Imagine a world where doctors have at their fingertips the information that allows them to individualize a diagnosis, treatment, or even a cure for a patient based on their genes. This is the President Obama’s vision for the Precision Medicine Initiative (2) .

Even though more than 80 million genetic variants (3) have been found in the human genome, we still don’t fully understand the role that most of these variants play in health or disease. Furthermore, the analytical validity of NGS technology for the diagnosis and treatment of disease is a nontrivial topic, and has peaked the interest of the FDA, which is working to assure the safety, efficacy and performance of genomic technology in a way that does not inhibit innovation. In order to help achieve the President’s vision, the FDA launched precisionFDA (4), a community platform for NGS assay evaluation and regulatory science exploration.

PrecisionFDA represents a novel and forward-thinking approach to regulatory science. Rather than government regulators defining upfront and then imposing a specific set of performance standards, precisionFDA instead sees the government as providing a research sandbox where the genomics community can experiment, share data and tools, collaborate, and suggest their own standards for evaluating analytical pipelines – organically and transparently.

The ultimate success of precisionFDA will of course depend upon the support and engagement from its community members. This new level of collaboration around the evaluation and performance of NGS pipelines will help to overcome the challenges of precision medicine in the 21st century.

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