Genomic frontiers: dashboards, Detroit and DNA
From the July-August ACP Observer, copyright © 2007 by the American College of Physicians.
By W. Gregory Feero, MD, PhD
Most physicians, unless stranded in the Amazon jungle for the last few years, have noticed the increasing attention given by various media to genetics and biotechnology. Topics such as stem cells, cloning, forensic genetics, paternity testing and the relationship between evolution and religion have captured public interest to an astonishing degree. Public attention has been paralleled by political attention to these topics; this year has seen a flurry of national legislative activity pertaining to genetics in healthcare. Perhaps the most important is the genetic information non-discrimination act, which offers the possibility of national protections from insurance and workplace discrimination based on heredity.
Why the sudden surge in attention given to genetics and biotechnology? Multiple factors have contributed, but several core advances in biomedicine have served as the engine:
The Human Genome Project (HGP) has contributed to an exponential increase in the number of genes identified as causal of less common disorders (approximately 1,300 in early 2007) bringing renewed hope to a wide range of patients worldwide.
The Human Genome Project has contributed to an exponential increase in the number of genes identified as causal of less common disorders (approximately 1,300 in early 2007) bringing renewed hope to a wide range of patients worldwide.
The HGP also has led to a nearly 400-fold decrease in the cost of sequencing DNA in the last decade, allowing the power of genetic analysis to be more fully applied to a vast array of other species that serve as useful models for studying human disease.
The field of pharmacogenomics has seen a rising number of prominent therapeutic success stories including imatinib (Gleevec) for chronic myeloid leukemia, bevacizumab (Avastin) for macular degeneration and trastuzumab (Herceptin) for breast cancer.
Completion of the HapMap project (an international collaboration that is developing a haplotype map of the human genome), has provided scientists with tools that are allowing gene discovery in common disorders, including diabetes, macular degeneration, inflammatory bowel disease and prostate cancer.
But what has all this to do with the day-to-day business of primary care physicians? As a hard-bitten primary care colleague of mine has said, "Genetics is the future of medicine, and always will be." This is no longer the case. At a recent genetics meeting, discussions of the need to educate primary care clinicians were rife with car analogies. The thinking goes something like this:
Gene-based technologies (the cars) are guiding prevention, diagnosis, and therapies for larger and larger segments of the population. However, past education efforts directed at primary care failed because too much time was focused on teaching the driver (the primary care provider) about how the engine (basic genetics) was put together, and not enough on the dashboard (how to apply and interpret genetic tests). As a primary care clinician, I agree. However, the genetics community (Detroit) has failed to realize that a decade ago, the cars they were producing were quirky (expensive, applicable to only the occasional patient, and difficult to understand) and few roads (the evidence base for application) existed. Primary care had little reason to buy a car in that environment. The environment today is different; the cars are more user-friendly, there are many more models to choose from, and the roads are much improved (though we don't have a fully developed interstate system). Our passengers (patients) will expect us to be able to help them to understand and take maximal advantage of gene-based technologies.
In a new episodic series of articles, I will address the need for a better understanding of genetics in primary care, covering both the scientific and medical aspects of genetic technologies as well as the governmental, ethical, legal and social issues that impact the primary care patient. They will be short, non-technical, timely and to the greatest extent possible, relevant. A new set of opportunities awaits those informed primary care clinicians positioned where the rubber meets the road. You have just had your first driving lesson.
W. Gregory Feero, a family physician with a doctorate in human genetics, is Senior Advisor for Genomic Medicine in the Office of the Director at the NIH's National Human Genome Research Institute.
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