Precision Medicine: A Patient's Guide

What to know about precision medicine before talking to your doctor.

Healthcare professional looking at x-ray
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“Precision Medicine” is a much buzzed-about term in medical circles, but what does it actually mean?

To some, the term describes treatment shaped by massive data collection efforts like the Human Genome Project, which set out to collect and map all of the genes in the human body. To others, precision medicine is personalized medicine, where individual treatments for patients are based on their unique genetic makeup.

Both definitions can be correct, explained Dr. Anne Pariser, Director of the Office of Rare Diseases Research of the National Institutes of Health’s National Center for Advancing Translational Sciences in an interview with Vita.

“There’s no one accepted definition for either precision medicine or personalized medicine and they’re actually often used interchangeably,” she said.

One way precision medicine is being used is in scouring data to determine if a condition thought to be a single disease is actually several different diseases, each one defined by a specific molecular makeup. Pariser uses new cancer treatments as an example.

“We’re starting to analyze tumors based on the mutations underlying the tumors and then start designing drugs or biologics specifically targeting whatever that mutation is,” she said.

For many rare diseases, that kind of targeted treatment would usually involve addressing a genetic mutation and Pariser recommends anyone with a genetic condition seek to have their genes mapped through a genome analysis. Such an analysis may also help whittle down the often years-long period it takes for rare disease patients to get a correct diagnosis.

“For people who are undiagnosed, there’s really a movement to get people a genomic analysis much faster now because so many of these (diseases) are turning out to have an underlying genetic cause," Pariser said.

CSL Behring is exploring the use of gene therapy as a leading-edge treatment for sickle cell disease, a disorder caused by a mutation in the hemoglobin gene that causes abnormally shaped red blood cells that obstruct vessels, leading to chronic pain and organ damage secondary to lack of oxygen. The biotech company’s treatment could potentially help patients by modifying their own stem cells to incorporate a gene able to produce an improved form of hemoglobin. Clinical trials are expected to begin next year.

The NIH is currently conducting a vast data collection initiative called “All Of Us.” It seeks to compile information from as many as one million Americans in order to create a resource for researchers to rely on as they move into the next phase of precision medicine: taking raw information and connecting it with specific conditions.

While much progress has been made in precision medicine, Pariser says there is a lot more room to explore and “the chance to make a difference in people’s lives is huge.”

“There have certainly been a lot of exciting breakthroughs, but I think the possibilities are enormous.”