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Promise of genomics research needs a realistic view

CHAPEL HILL, N.C. - In the ten years since the human genetic code was mapped, expectations among scientists, health care industry, policy makers, and the public have remained high concerning the promise of genomics research for improving health.

But a new commentary by four internationally prominent genetic medicine and bioethics experts cautions against the dangers of inflated expectations an unsustainable genomic bubble and it offers ways to avoid it while still realizing "the true and considerable promise of the genomic revolution."

"This commentary is an attempt to bring some balance to the hopes and claims that swirl around the issue of genomic medicine. It is a cautionary essay that tries to extol the real and formidable potential of genomic medicine but also attempts to counter what we see as exaggerated claims, said lead author medical geneticist James P. Evans, MD, PhD, Bryson Distinguished Professor of Genetics and Medicine at the University of North Carolina at Chapel Hill and the UNC Lineberger Comprehensive Cancer Center.

"Our fear is that if we are uncritical and nave in our enthusiasm for these exciting technologies we risk both diversion of precious resources and premature implementation which could hurt patients - as well as a backlash which will hurt our field," Evans warns.

The commentary appears in the February 18, 2011 issue of the journal Science. Co-authors with Evans are Eric M. Meslin, PhD, director, Center for Bioethics, Indiana University, Indianapolis; Theresa M. Marteau, PhD, FMedSci, professor of health psychology, Kings College, London, UK; and Timothy Caulfield, LL.M., F.R.S.C., Canada Research Chair in Health Law & Policy, University of Alberta, Edmonton, Alberta.

"Breathtaking" is how the authors describe the progress already made in genomic research. But, they caution, the considerable promise of genomics must be evaluated through a realistic lens. Advances in individualized medicine, or pharmacogenetics for example, still require the importance of human behavior in health outcomes: the most powerful predictor of a drug's efficacy depends less on genetics than whether the patient takes the drug.

Among the reasons they cite making genomics the persistent recipient of "hyperbole" and inflated expectations, some are tied to impatience for practical applications, market forces and unbridled (but uncritical) enthusiasm. The news media also is named for "playing an obvious role in the creation of unrealistic hopes."

"These forces act together to produce a kind of "cycle of hype" that drive overly optimistic representations of the research," said co-author Timothy Caulfield.

In their short-list of recommendations for avoiding inflation of the "genomic bubble, Evans and co-authors offer the following: (1) reevaluate funding priorities to stress behavioral and social science research aimed at behavior change for improving health; (2) foster a realistic understanding "of the incremental nature of science and the need for statistical rigor," within the scientific community and that the media make more responsible claims for genomic research; (3) maintain a focus on developing high-quality evidence before integrating good ideas into medical practice.

"By highlighting the risks of continuing to promise results from genomic science, we were hoping to draw attention to a more sustainable approach to reaping the benefits from genomic science," said co-author Eric Meslin.

The authors assert their belief that the current age of genomics will provide great benefits to human health "Ours is not a call to gut existing research or too-rigidly tie funding to degree of disease burden The pursuit of our common goal improved human health demands that we take a hard look at disease causation and order our priorities accordingly."


Contact: Les Lang
University of North Carolina School of Medicine

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