The Evolution of Precision Medicine

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Precision medicine is on the cutting edge of health care, technology and controversy. The idea of using a patient’s biological information to improve and tailor treatment has gone from niche to mainstream, with President Barack Obama calling for a $215 million investment in precision medicine during his State of the Union address in January. But as the practice gains popularity, experts point out a number of issues that the medical community has yet to tackle.

While the cost of sequencing a genome hovers around $5,000 now – down from $95,000 in the early 2000s – the genetic info gleaned from the sequencing needs to be analyzed, interpreted, shared and stored. That means precision medicine is about far more than simply crafting a personalized cure; it involves big data, privacy issues, drug development and finding a way to pay for it all.

Dr. Geoffrey Ginsburg, founding director for the Center for Applied Genomics and Precision Medicine at the Duke University Medical Center, Dr. Elizabeth M. McNally, director of the Center for Genetic Medicine and a professor in the departments of Medicine and Biochemistry, Molecular Biology and Genetics at Northwestern University Feinberg School of Medicine, and Dr. Barrett J. Rollins, chief scientific officer at Dana-Farber Cancer Institute and the Linde Family Professor of Medicine at Harvard Medical School spoke about precision medicine Monday during the 2015 U.S. News & World Report Hospital of Tomorrow Conference in the nation’s capital. The session, “The Precision Medicine Revolution,” was monitored by U.S. News & World Report Managing Editor Lylah M. Alphonse.

“The genetics application to medicine is not something that’s completely new,” Ginsburg said, pointing out that the term “pharmaco-genetics” was coined in 1959. But since then, the field has changed, going from one that’s “very genome-based to one that’s more health-care and health-care systems based,” he said.

All kinds of information are having an impact on how patients are diagnosed and treated, he explained, in addition to genomic sequencing. Advanced therapies, mobile health, eHealth, learning health systems, patient engagement, big data and analytics all have a role to play in precision medicine.

When we talk about precision medicine with respect to genetics, McNally explained, we’re talking about the advances since 2007, McNally said, which is when we started generating “massive amounts of sequence” and “we started to appreciate for the first time just how genetically variable we all are from one another.”

A cardiologist, McNally pointed out that in the areas of heart failures and arrhythmia, doctors now know there are many families that carry genetic risks for developing heart problems, and they use that information in managing those patients.

“We’ve certainly saved lives by using genetic information,” she said.

So what’s “the genetic reality?”

“We’re all a mix of common and rare variation,” she said, “yet sorting through that information is an incredibly good predictor of what outcomes are.”

When it comes to treating cancer, there are a large number of genetic variants that are already known, and every diagnosis is a tissue-based diagnosis, said Rollins, who has focused on the relationship between inflammation and cancer. “So, for us, the question is not so much, ‘Should we implement a precision cancer medicine program at a cancer medicine center?’ The question is, ‘How do you do it?'”

The answer is simple, though the implementation of it is not: “The Hospital of Tomorrow is going to have to figure out some way to do broad-based genomic testing on every patient who comes to their hospitals.”

Being able to gather data on many more individuals can eventually help the medical community treat disease on a broader scale, the panelists agreed.

“When we’re talking about the impacts on public health, we’re talking about risk and risk modification,” Rollins explained. “It’s always been very striking that the vast majority of people who smoke don’t get lung cancer, and yet that single intervention of smoking cessation has had a huge public health impact.”

A better understanding of which individuals can’t repair the damage caused by smoking – and which ones can – would allow the medical community to craft more precise risk-modification programs for patients, Rollins added.

Still, Ginsburg cautioned, significant challenges remain, including acceptance, access to interpretation, electronic health record integration, data liquidity, outcome studies and, of course, reimbursement.

It’s not a revolution, he said. It’s an evolution.

“Precision medicine is a team sport,” Ginsburg said. “Precision medicine itself will spawn forums and encourage participation. Don’t be afraid to be part of that dialog.”

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