The leading lights of genomics in May 27, 2010's New England Journal of Medicine offer a expectations-lowering retrospective on the genomics revolution's impact on health care. It is the first in a series of articles on Genomic Medicine in NEJM, occasioned by the ten-year anniversary of the sequencing of the human genome.
The scientist in charge of that effort, Francis Collins, now heads the National Institutes of Health. He is one of three co-authors of a new review that notes:
Most SNPs (single nucleotide polymorphisms or small variations in a single gene) associated with common diseases explain a small proportion of the observed contribution of heredity to the risk of disease - in many cases less than 5 to 10% - substantially limiting the use of these markers to predict risk. It thus comes as no surprise that as yet there are no evidence-based guidelines that recommend the use of SNP markers in assessing the risk of common diseases in clinical care.
http://www.nejm.org/doi/full/10.1056...jkey=d1a2b3572
In an accompany commentary, Harold Varmus, a former NIH director who is slated to become the new head of the National Cancer Institute, also seeks to lower expectations about the impact of genomics on health care. He specifically takes aim at mechanistic interpretations of "personalized" medicine, which is often used to refer to the use of an individual's genomic analysis to drive medication strategies.
The term "personalized medicine" has become nearly ubiquitous as a means of conveying how molecular tests can subdivide diagnostic categories and refine therapeutic choices. This phrase may also prove to be strategically successful - by preemptively warding off claims that an overreliance on genotypes in medical practice is deterministic and thus "impersonal," or that genetic approaches undermine more traditional approaches to "personalized" care that are based on knowledge of a patient's behavior, diet, social circumstances, and environment. Of course, both genetic and nongenetic information is important; the more we know about a patient - genes and physiology, character and context - the better we will be as physicians. By measuring the distance to a fuller integration of genomic knowledge into patient care, this new series of articles may encourage a more nuanced calibration of what it means to "personalize" medicine.
Most of the first article and comment in the series is devoted to outlining the promise of genomics, of course. We'd expect nothing less from the scientists-turned-government-officials who are in charge of awarding billions of dollars annually to researchers pursuing population-based gene-disease correlation studies from their desktop computers. But it's an important milestone in its admission that genes in the vast majority of cases are not destiny and, with the exception of a few cancers that have been well studied (like breast cancer), provide limited guidance to care.
http://www.nejm.org/doi/full/10.1056...1933?query=TOC
Source: Gooznews