Genomic Medicine - Science and Technology Committee Contents


  Foreword by Francis Collins to "Genomics and Clinical Medicine", Dhavendra Kumar and Sir David Weatherall (Eds). Oxford University Press, New York, pp viii. (2008).

  A scant twenty years have passed since the word "genomics" was coined by Victor McKusick, Frank Ruddle, and Tom Roderick to describe a new discipline. The suffix of the word derives from the Greek ome meaning all, and aptly conveyed an intention to transition the study of heredity from a focus on single genes (genetics) to the more global perspective of all of the hereditary material. A proliferation of other "omics" disciplines has subsequently erupted—including proteomics, metabolomics, transcriptomics, glycomics, microbiomics, and many more.

  But genomics remains the foundation of the rest, reflecting as it does a comprehensive analysis of the DNA instruction book. The success of the Human Genome Project has now laid that instruction book wide open. As a result, the life sciences have been catapulted forward, and biology has now taken its rightful place alongside physics and chemistry as a truly digital and quantitative science.

  It is the application of genomics to medicine that carries its greatest promise of benefit to humankind (Francis Collins, 2008). Here in the early years of the third millennium we can see the emerging outlines of a new synthesis of the noble tradition of the healing arts with an increasingly precise way of understanding the causes of disease, based on an understanding of the human genome. There are still many practicing physicians who would say they see no evidence of genetics or genomics as part of their daily medical practice. Surely, however, that reveals a problem with the successful communication of rapid new developments in this field, not the facts of the matter.

  The pace of progress in genomics has been astounding. Over just the last 15 years, largely as a consequence of the tools made available through the Human Genome Project, genes have been identified for more than two thousand inherited conditions. With recent rapid advances in the understanding of human genetic variation, the specific hereditary contributions to common diseases like diabetes, heart disease, cancer, and mental illness are emerging at an unprecedented rate. The very real possibility of offering individuals who are currently healthy a personalized prediction of future risks of illness is no longer a distant dream. And given that many of the common disorders for which predictions are becoming possible are associated with proven means of reducing risk through diet, exercise, lifestyle change, medical surveillance, or pharmacotherapy, the real likelihood of widespread individualized programs of preventive medicine grows by the day. Similarly, the ability to make predictions about the possibility of a beneficial or undesirable response to drug therapy, the field of pharmacogenomics, is advancing rapidly, and will soon require health care providers to determine the genotype before writing the prescription, at least for certain drugs. Many of us predict that the complete genome sequence of an individual will become part of that person's medical record within about ten years, at a cost of US $1000 or less. And the therapeutics that we use in the future will likely be heavily dependent upon an understanding of the genomic basis of illness, leading to interventions that are both more accurately targeted to the underlying problem and less likely to cause side effects.

  All of these advances should be welcomed by anyone interested in the alleviation of human suffering. Yet a number of major ethical, legal and social challenges lie along the path if this vision is going to be realized. In the United States, for example, we still lack effective federal legislation to prevent discriminatory uses of predictive genetic information. Major challenges also lie ahead with regard to ensuring equitable access to new genomic technologies, especially as our medical care system seems to undervalue opportunities for preventive medicine, focusing instead on treating disease once it has already appeared. But perhaps the greatest barrier, and the one which this book admirably seeks to address, is an educational one. Most members of the public are interested in genomics, but relatively unsure of the details. Seeking advice, they generally turn to their health care providers, but many of those professionals are poorly prepared to become practitioners of this new art. After all, most physicians have had little or no training in genetics or genomics, and will be hard pressed to quickly acquire the scientific principles, the medical knowledge, and the psychosocial skills that will be necessary for the successful introduction of genomic medicine.

21 April 2008

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