Precision medicine has limited effect on the practice of most cardiologists, but with many initiatives underway, it is expected to change the way cardiology is researched and, eventually, practiced.
Precision medicine, defined by the NIH as “an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment and lifestyle for each person,” could someday enable cardiologists to make decisions based on highly individualized variables, not just on generalized trial results or guidelines.
“Precision medicine will provide clinicians with increasingly precise information about the molecular mechanism by which a person has developed CVDs, and increasingly precise information about the optimum treatment to deal with their disease,” Elliott M. Antman, MD, FAHA, professor of medicine in the cardiovascular division at Brigham and Women’s Hospital and Harvard Medical School; associate dean for clinical translational research at Harvard Medical School; and immediate past president of the American Heart Association, said in an interview with Cardiology Today.
Efforts such as the NIH’s Precision Medicine Initiative and the AHA’s Institute for Precision Cardiovascular Medicine may be the beginning of a pathway that changes research paradigms and the doctor–patient relationship.
“The goals of precision medicine are to [provide] more precise information to improve health and, along the way, to facilitate discovery science and make clinical research more efficient,” Antman said. “That information will be provided to health care providers, but, importantly and with increasing significance, that information will also be provided to individuals so they can take charge of their own health more than they do now.”
New research underway
President Barack Obama announced the Precision Medicine Initiative in his January 2015 State of the Union address, during which he called for $215 million to fund in fiscal year 2016, including $130 million for the NIH to develop the PMI Cohort Program, a national, large-scale research participant group.
Enrollment is expected to begin this year, with a goal of including 1 million participants by 2019. The cohort “will be a participant-engaged, data-driven enterprise supporting research at the intersection of human biology, behavior, genetics, environment, data science and computation, and much more to produce new knowledge with the goal of developing more effective ways to prolong health and treat disease,” according to a statement on the NIH website. “The goal of the PMI Cohort Program is to set the foundation for a new way of doing research that fosters open, responsible data sharing with the highest regard to participant privacy, and that puts engaged participants at the center of research efforts.”
Among the diseases to be included in the effort are CVD, diabetes and obesity.
For the pilot phase of the project, the NIH contracted Vanderbilt University and Verily, a subsidiary of Alphabet Inc., to “help establish test methods and technologies for enabling direct recruitment of participants and data sharing with researchers” and to “explore optimal approaches and systems for engaging and enrolling participants,” said Carl J. Pepine, MD, MACC, Chief Medical Editor of Cardiology Today.
According to the NIH website, “this approach will help us learn how to create durable relationships with volunteers, who are partners in the research process, which will be the foundation for a democratized, transformative research environment.”
In addition, Pepine said, the U.S. Health Resources and Services Administration is working with several health institutions to figure out how to bring “underrepresented individuals, families and communities to the cohort.”
Other components of the Precision Medicine Initiative include development of data security principles and framework, development of open standards for electronic health records, an effort by the Veterans Administration and the Department of Defense to develop a research cohort of more than 450,000 veterans called the Million Veteran Program, a guidance from the Office for Civil Rights on individuals’ access to their health information under HIPAA, and a precision cloud-based platform under development by the FDA to “encourage genomics researchers to advance quality standards and achieve more consistent and accurate DNA test results,” according to Pepine.