The Rise of Precision Medicine: Viable, but Challenge Lies Ahead

In his State of the Union address in January 2015, President Obama announced the precision medicine initiative, a $215 million plan to collect genetic information from a million American volunteers, in order to further the development of personalized, genetics-based medical treatments. Now the National Institutes of Health (NIH) has approved a blueprint for his Precision Medicine Initiative, and named an NIH insider as interim director of the project.

In his State of the Union address in January 2015, President Obama announced the precision medicine initiative, a $215 million plan to collect genetic information from a million American volunteers, in order to further the development of personalized, genetics-based medical treatments. Now the National Institutes of Health (NIH) has approved a blueprint for his Precision Medicine Initiative, and named an NIH insider as interim director of the project. The initiative aims at enrolling one million volunteers over the coming four years.

In a February 2015 audio interview with Dr. Francis Collins on what to expect from the initiative, the New England Journal of Medicine asked for a precise definition of what the term means. Collins, in his own words, defined it as an effort to capture all the specifics about an individual’s health, including, “environmental exposures, their own health behaviors, various aspects of their physiology [and] their metabolism, as well as genetic information, to a variety of different genomic tools and increasingly, the use of various cellphone-based monitors that can also keep track of lots of parameters of what is happening to that individual.”

Collins also talked about the origin and the aims of precision medicine initiatives. The “big hairy audacious goal,” as he calls it, is to work on maintaining wellness by identifying the kinds of inputs that will help people, as well as to do a better job in managing chronic disease and managing treatments of diseases that need it. The origin of the name “precision medicine” came from an Institute of Medicine panel in 2011 that was convinced that the term was better at capturing what Collins and his colleagues were trying to achieve. Collins, however, thinks the term is fairly interchangeable with “personalized medicine.”

How Precision Medicine Became Feasible in 2015

Collins mentions in the interview with NEJM why 2015 is the right time for precision medicine to launch. His explanation includes the following four factors, which would all come together in time to make precision medicine feasible:

1. The emergence of electronic health records. “We do have electronic health records existing for a significant number of individuals, which wasn’t the case a few years ago,” Collins says. According to MCNC.org research, almost 78% of office-based physicians adopted some type of EHR system by 2013.

2. Patients want to feel more involved. “There are patients that are much more proactively interested in participating in research of personalized medicine,” Collins says, adding that this is especially true if they would get access to their own data.

3. Advances in mobile health. Collins describes the opportunities of mobile health (mHealth) and the ability to sample a lot of information using smartphone-based technologies. In addition, via the 21st Century Cures Act, there are possible changes in U.S. law happening that would allow healthcare stakeholders to implement precision medicine and adopt new principles on drug testing and get market approval for healthcare products.

4. A precipitous drop in the cost of genomic analysis. “The sequencing of a whole genome, which used to cost hundreds of millions of dollars, is now down to a couple of thousands [of dollars],” Collins says.

Decline in Costs to Sequence a Human Genome, Data available on http://www.genome.gov/images/content/costpergenome_apr2015.jpg

Video: President Obama on Precision Medicine (CBS News)

US President Obama: “The time is right to unleash a new wave of advances in this are of precision medicine”

What Are the Problems (and Solutions) Within Precision Medicine?

Cynthia Graber writes in the New Yorker that many doctors are simply not qualified to make sense of genetic tests, or to communicate the results accurately to their patients. What is the answer to such an interpretation problem? One solution may be to provide more training to doctors who use precision medicine in their practice. Additionally, it is likely that technology companies will be highly sought after in gathering and analyzing data.

James Timmons, professor of precision medicine at King’s College in London, say there is another problem, and maybe a much bigger one than the training of doctors. Timmons responded to the article by Graber via a comment he left on LinkedIn, saying the biggest problem, in his opinion, is the simplistic obsession with DNA. The issue would be the overselling of what DNA sequence data offers in the first place, and that DNA may be in conflict to what the approach via RNA (ribonucleic acid) already offers. (You can read more about the differences between RNA and DNA here.)

Following Timmons comment, do we need to reconsider how we make use of precision medicine? Tom Maniatis, director of the Columbia University Precision Medicine Initiative, says that it is important for the laymen public to understand that this is not going to happen overnight.

“We can now sequence very cheaply but we still have to add it on to the drugs developing, and that takes time,” he says in an interview with Time Magazine.

Whether better training of doctors or a more optimized use of DNA testing, the answer for how to overcome the challenges of precision medicine may well be that it simply will take more time to develop better processes.