The Potential of Precision Medicine

african doctors looking at patient's x-ray

Whether you are a critic or an advocate of President Obama’s precision medicine initiative, it is worth noting that it did not come about in the last few months. The initiative was influenced by a 2011 National Academy of Sciences report that recommended the federal government invest resources into a new way of classifying diseases by their molecular and environmental causes instead of their physical signs and symptoms. Since the initiative was announced in President Obama’s State of the Union address, The White House has provided more details for how the funds for the proposed $215 million initiative would be used:

  • $130 million to the National Institutes of Health for development of a voluntary national research cohort of a million volunteers
  • $70 million to the National Cancer Institute to increase efforts to identify genomic drivers in cancer and develop more effective cancer treatments
  • $10 million to the Food and Drug Administration for additional expertise and to develop high-quality databases that advance innovation in medicine
  • $5 million to the Office of the National Coordinator for Health Information Technology to develop privacy standards and secure data exchange

The Benefit

Using these funds, this federal effort would create a personal healthcare information database of over a million people. This national resource would include the United States with countries such as Japan, the United Kingdom and Iceland that have built vast population databases for research and medical care. According to a recent Scientific American article, the proposed database would include patient histories, genetic data, information from wearable health monitors and facts on bacteria, fungi and viruses found in and on the bodies of individuals. With this wealth of information, the objective is to provide medical care that would be more individually customized to each person’s unique genetic makeup and other factors.

Reactions to Date

So far, there has been mixed support from the medical community. Advocates of the precision medicine initiative include Dr. Charles Sawyers who directs the Human Oncology and Pathogenesis Program at Memorial Sloan Kettering Cancer Center. In a New York Times article, he explained, “No matter what tumor type you have, a certain percentage of patients, often a small percentage, have mutations that would likely result in a treatment that would work and that we never would have thought of.”

In contrast to this perspective, Dr. Michael Joyner (a physiologist and anesthesiologist at the Mayo Clinic) shared his skepticism in an op-ed in the New York Times. He refers to precision medicine as a “moonshot” medical research initiative that is likely to fail to meet expectations, because medical issues and their underlying biology are not linear engineering exercises.

Critical Challenges

In addition to these differing perspectives, there are critical challenges that need to be addressed. Kristen McCaleb (program manager of the Genomic Medicine Initiative at the University of California, San Francisco) pointed out that the initiative will utilize existing information from patients in clinical trials instead of collecting data from scratch. She explained that this complicates things, because scientists often disagree on the importance or meaning of particular genetic variants for disease. For example, two scientists looking at the same list of more than 30,000 genetic variants for each person may have differing opinions about whether or not those genetic mutations are strongly related to disease or worth further exploration. Incorporating 30,000 variants from over a million people would require a supercomputer to capture all the raw data. Without it, investigators would be relying on a series of subjective interpretations of that information which would be difficult to use.

Another critical concern is data privacy. Information from over a million people being consolidated in one place would be an attractive target for hackers. Even if identifiers such as a patient’s name and birth date are removed from the data, a hacker with enough information about an individual’s genealogy could connect the data with the right individual. Although having genealogical information may sound far-fetched, the number and sophistication of recent cyber security breaches suggests that obtaining this information may not be that difficult.

The precision medicine initiative does appear to have some potential. In order to see if realizing this potential is truly feasible, a number of crucial issues need to be resolved.

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Ryan Lahti is the founder and managing principal of OrgLeader, LLC. Stay up to date on Ryan’s STEM-based organization tweets here: @ryanlahti

(Photo: Dollar Photo Club)

2018-09-22T04:34:50+00:00February 3rd, 2015|Categories: Science|Tags: |