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A Response from the Office of Genomics and Disease Prevention Re:Shattuck Lecture: Medical and Societal Consequences of the Human Genome Project. By Francis Collins, New Engl J Med 1999;341:28-37. |
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Dr Collins discusses the
implications of gene-based medicine using a hypothetical case scenario
of a 23-year-old college graduate evaluated for elevated cholesterol
levels in the year 2010 (1). Through pertinent use of genetic tests, the
patient learns about his risks for various conditions based on his
genetic profile and about available interventions to modify these risks.
Dr. Collins paints an optimistic scenario in which the types of data needed will be available by 2010. However, even as the Human Genome Project nears completion, there is little investment in studies than can provide the clinically meaningful risk estimates assumed by Dr. Collins. Family-based studies tend to overestimate |
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the penetrance of genetic
variants as shown in recent studies of BRCA1 and breast/ovarian cancers
(2) and the Apolipoprotein E-E4 allele and Alzheimer’s disease (3).
Given the paucity of population-based data for many newly discovered
human gene variants, appropriate health policy on the use of genetic
tests will not be possible by the year 2010 even if ethical, legal and
psychosocial issues are resolved.
A systematic population-based clinical-epidemiologic approach to human genome variation was recently termed human genome epidemiology (HuGE) (4). HuGE uses epidemiologic methods in population studies to assess the 1) prevalence of gene variants; 2) magnitude of disease risk associated with gene variants (relative, absolute and attributable); 3) magnitude of disease risk associated with gene-gene and gene-environment interactions; 4) clinical validity and utility of genetic tests; and 5) the determinants and impact of using genetic tests. Such studies can be done using traditional epidemiologic designs (e.g. cohort and case-control studies). Given the massive amount of genomic data that will be generated over the next decades, a coordinated global effort is needed to develop and disseminate human genome epidemiologic information. For this to be accomplished, there must be collaboration between epidemiologists and researchers from various specialties. In 1998, a collaboration of individuals from government, academia, industry, and professional organizations launched the Human Genome Epidemiology Network (HuGE Net). This effort seeks to develop and disseminate an epidemiologic knowledge base on human genes on the Internet and to promote its use for policy making (5). Only after epidemiologic studies on thousands of genes are completed will we have the types of data needed to translate such discoveries into a gene-based vision of medical practice in the 21st century. References
Muin J. Khoury M.D., Ph.D. |
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This page last updated on August 17, 2004