Members of the GMI team contribute to Genome Magazine – here is an excerpt of an article that does a great job of describing what genomic/personalized medicine is, and how it is helpful.
What is Personalized Medicine?
That’s because medicine as we know it revolves around “standards of care,” the best courses of prevention or treatment for the general population, or the average person on the street. With breast cancer, for example, those standards mean self-exams and mammograms after a set age and the usual chemotherapy to treat a tumor if one is found. If the first treatment doesn’t work, doctors and patients move on to the next one and the next. It’s trial and error, with life on the line.
A growing contingent of researchers, some healthcare clinicians, and an increasing number of patients are calling for a more personalized approach aimed as much at preventing disease as it is at tailoring treatment once it’s there. Call it what you will — personalized medicine, genomic medicine, precision medicine. It’s an approach that emphasizes the ways in which your disease risks are unique and different, just like your other, more obvious characteristics. Those disease risks are based on the predispositions written into your genome at birth, combined with your lifestyle and environment. In the case of cancer, the disease has its own genetic makeup, lending each tumor a unique character with unique tendencies and vulnerabilities.
And perhaps there is, or soon will be, a drug or treatment or tailored combination of the two that will work better for you than it would for someone else.
“The number of targeted therapies in the pipeline for all diseases is increasing dramatically,” says J. Leonard Lichtenfeld, deputy chief medical officer for the American Cancer Society. “Personalized medicine in the age of genomics means we’re living in dynamic times. The big question right now is ‘How do we take all this new information we’re gathering and use it for the benefit of the patient?’”
In many cases, the current standard of care may be the safest, most sensible option, but it’s also “one size fits all.” Sometimes that’s perfectly sufficient, but not always. It is in that “not always” category that personalized medicine is making the most headway.
A Decade of Advancement
Many doctors will tell you they’ve been doing personalized, patient-centered medicine all along, and they do have a point. Wikipedia defines personalized medicine as “a medical model that proposes the customization of healthcare — with medical decisions, practices, and/or products being tailored to the individual patient.” But the definition preferred by the National Human Genome Research Institute is more specific, maintaining that a personalized approach to medicine includes an “individual’s genetic profile to guide decisions made in regard to the prevention, diagnosis, and treatment of disease.” Reaching that goal has been more than 20 years in the making, birthed from an ambitious plan to sequence the first reference human genome. By 2003, scientists had done it; for the first time, they had an essentially complete sequence and map of all the genes in the human body.
“Probably at no time in the history of medical research, going back to the time of William Harvey and the circulation of blood, in the 1600s, has there been more potential and promise for discovery that will benefit mankind in terms of the health of the species as where we are right now as a result of the Human Genome Project,” says Scott T. Weiss, scientific director at Partners HealthCare Center for Personalized Genetic Medicine at Harvard Medical School.
Advances in technology have since accelerated the pace of discovery and lowered the cost so much that scientists pushed on from that single reference genome to sequence the genomes of more than 1,000 individuals in all their variations. These days, individual patients — and sometimes healthy people, too — can have their personal genomes scanned or fully sequenced. This knowledge about the basic elements of human genomes and their differences, both common and rare, is central to the concept of personalized medicine. It’s changing the field of medicine, even though many of us probably haven’t noticed any direct evidence of it at the family doctor’s office yet.
A 2013 survey by GfK, a global consumer research firm, found that just 27 percent of people interviewed had heard the term “personalized medicine.” Of those, only 4 percent understood what the phrase most often implies: “medicine based on genomic makeup.”