Personalized medicine, comparative effectiveness research, and the Human Genome Project


A monumental achievement – the release, in 2000, of a draft of the human genome – is now being celebrated at its 10th anniversary.  In the same decade, personalized medicine gained traction as the wave of the future for clinical practice, and comparative effectiveness research (CER) emerged as the research paradigm to shape US healthcare policy, delivery, and reform.  But personalized medicine is also, clearly, about research; a central purpose is to use genomic mapping and associations to identify the right intervention for the unique individual patient.  And CER is also, clearly, about patient care; its studies conducted in “real-world” contexts are designed to improve understanding of treatments and outcomes for individual patients with like characteristics.  Are personalized medicine and CER separate approaches or competitors?

Neither.  Rather than adversaries or parallel silos, these two movements are happy bedfellows sharing common goals and intentions, and contributing synergistic approaches and methodologies.  Both march to a common mantra: “the right intervention for the right patient at the right time.”  Both, while heavily steeped in research and development of translational methodology, are at their heart concerned with clinical practice; their purpose is to generate information for doctors and patients that can guide decisions about the individual’s care.  Both seek to advance science and its methods.  In personalized medicine, attention has focused on describing the precise make-up of the individual and matching treatment to individual characteristics; CER  has advanced data interoperability and the use of aggregated data to allow ever more finer-tuned understanding of outcomes.  The Human Genome Project unites them in the common quest to use genomic profiles and associations to understand the health of populations and of individuals within them.

Both personalized medicine and CER require health information technology (HIT) and interoperable data, with access to massive interlinked datasets, to explore outcomes for individuals and populations.  Both require that HIT enable continuous expansion and refinement of those datasets, so that we can incrementally improve prediction, individualized targeting of care, and effectiveness of interventions.   

Continuing to view personalized medicine and CER as distinct paradigms belies a 20th century, pre-Human Genome Project, world view.  In the 21st century, with the vast power of genomic medicine lying ahead, and with HIT and interoperable data as tools to support us, we have the opportunity to transition to a framework of personalized CER.  Our government has heralded this new understanding; personalized medicine, CER, and HIT are all embedded in US healthcare reform.  At this critical juncture, we must cultivate the vision of a unified story, one that moves us as a nation towards personalized CER enabled through and leveraging the results of national investments like the Human Genome Project.

One Response to “Personalized medicine, comparative effectiveness research, and the Human Genome Project”

  1. anci Says:

    Your article is very interesting, giving a lot of inspiration, especially for this novice.
    Thank you for the information and continue your great work.

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