In 2011, the National Research Council (NRC) published a report, titled "Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease," which set the ball rolling on changing our current thinking about use of the term "personalized medicine." The report preferred "precision medicine" to convey a more accurate tailoring of medical treatment to the individual characteristics of each patient, not just merely a personalized approach that involved the creation of medicines that are unique to a patient.

The focus of precision medicine is to classify individuals into subpopulations that differ in their susceptibility to a particular disease. Drilling down into the molecular biology of individuals together with overlaying phenotypic and clinical information will better help direct therapeutic interventions. The concept very quickly found traction leading up to the recently launched Precision Medicine Initiative focusing on collaborative efforts to leverage advances in genomics, data sharing and health information technology to accelerate biomedical discoveries.

CONSORTIUM OF COHORTS

The main program driving the initiative will be efforts to build a consortium of cohorts. What that might look like down the road was one of the topics on the agenda of a two-day NIH public meeting on the president's Precision Medicine Initiative earlier this month.

The goal is a lofty one: to create a national cohort of at least 1 million Americans who are committed to participating and helping build that research tool designed to advance knowledge about diseases.

Rather than start from scratch, the general consensus of scientists charged with looking into this aspect is that it would be better to build upon the cohort platforms that already exist and assemble them into a large consortium with a central infrastructure.

The goal, according to a white paper released for the meeting, will be to integrate genomic, clinical and other health-related information into "a framework accessible to and useful for researchers investigating a broad range of diseases, including cancer, and medical questions, including gene environment interactions." Information from the cohort will ultimately contribute to the development of better disease prevention strategies and new therapeutics.

At the meeting, Dave Kaufman, program director, National Human Genome Research Institute, described the findings of a preliminary NIH cohort inventory study to determine if, indeed, there were sufficient resources available already to get a running start to build the national resource in the space of five years.

In all, they identified 53 involving large-scale research cohorts, six hospital-based cohort studies and 10 hospitals and health care systems with research-oriented databases of their patients. Together those comprised approximately 12.3 million individuals enrolled across the studies.

Although some of the studies were designated as national in scope, Kaufman said they weren't getting national participation.

Ideally, the studies should have bio-specimens, the cohorts should be actively followed and consent should be received to broadly share a patient's information. As far as the study could ascertain, approximately 3 million individuals met all three of those criteria.

It was felt that the assembly of a consortium of cohorts from those individual collections is clearly possible, although it would be a massive undertaking to combine and harmonize the existing information into a large-scale accessible research-quality database and resource.

Currently, Kaufman noted that a common infrastructure to bring together information from those various studies is absent. The various cohort studies have employed a number of approaches to data gathering, sharing and the involvement of research participants, including provisions for contact and consent.

Despite the hurdles, the effort will be worthwhile. Eric Boerwinkle, chairman of the Human Genetics Center at the University of Texas Health Science Center, identified a list of benefits that would accrue from such a national cohort resource, including enhanced phenotyping, sequencing data for each participant, a platform to help selection for future clinical trials, and serving as a pilot for national electronic health records and providing a virtual cycle of health care and research data.

While geographic, ethnic and cultural diversity are stated goals of the cohort, Boerwinkle said it doesn't have to be representative of the U.S. Getting the data is what's important. (See BioWorld Today, Feb. 12, 2015.)

OFF AND RUNNING

The precision medicine effort is now truly off and running. However, its ultimate success stands or falls on receiving buy-in from individuals who are willing to share their genetic information, medical records, digital monitoring and health behaviors.

It is the start of what the NRC report envisaged as an information commons in which data "on large populations of patients become broadly available for research use and a 'Knowledge Network' that adds value to these data by highlighting their inter-connectedness and integrating them with evolving knowledge of fundamental biological processes."

Certainly a grand challenge, but one that will pay immense dividends if it can be achieved.