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Making The Vision of Genomic Medicine A Reality: The Need for Public Health Research in The 21st Century
Muin J. Khoury MD, PhD, Laura Beskow, MPH, Marta Gwinn, MD, MPH
image of a doctor with a baby, a family, a dna strand emerging from a globe resting in a pair of hands

In a recent JAMA issue devoted to opportunities for medical research in the 21st century (1), 
Drs’ Collins and McKusick forecast a true integration of genetics into the mainstream of medicine (2).  They project that the identification of genes followed by the development of diagnostics (genetic tests) will lead to the development of individualized preventive medicine (through targeted behavioral modification and medical screening) and individualized drug treatments (pharmacogenomics).  They state, “Many primary care clinicians will become practitioners of genomic medicine, having to explain complex statistical risk information to healthy individuals who are seeking to enhance their chances of staying well (2).”

In our excitement about genomic medicine in the 21st century, we should not overlook the immense gap between the scientific products of the Human Genome Project and the kinds of beneficial application that Collins and McKusick describe. To help close this gap, we see a crucial role for public health research, especially in three areas (4).

1) Epidemiologic research.  Family studies tend to overestimate the penetrance of genetic variants, as shown in studies of BRCA1 and breast/ovarian cancers, and the Apolipoprotein E-E4 allele and Alzheimer’s disease (3).  There is an increasing need for population-based epidemiologic studies to assess 1) prevalence of gene variants, 2) magnitude of disease risk associated with gene variants, and 3) magnitude of disease risk associated with gene-gene and gene-environment interactions (3). The Atherosclerosis Risk in Communities Study (5), the Framingham Heart Study (6), and the National Health and Nutrition Examination Survey (7) are examples of large-scale epidemiologic studies that are beginning to assess associations between gene variants, environmental factors (e.g., smoking, physical activity, diet), and the risk for common complex diseases. The scarcity of population-based data for many newly discovered human gene variants will make it difficult to develop appropriate health policy about the use of genetic information.

2) Policy and communication research.  To use genetic information to benefit health, we must address a number of economic, social, ethical, and political issues, including the information and communication needs of stakeholders. Public health research to identify and analyze the implications of these types of issues, together with epidemiologic data, provide the foundation for developing effective policies about the appropriate use of genetic information. Example: factor V Leiden is the most common genetic risk factor for venous thrombosis, a leading cause of inpatient and maternal death (8,#9).  Policies concerning population screening for factor V Leiden prior to prescribing oral contraceptives or during pregnancy should be guided not only by clinical and epidemiologic data on risk-to-benefit ratio, but also by an examination of possible personal and social morbidity, overall economic cost, and public attitudes and opinions (10).

3) Health services research.  Assuring that genetic testing is safe and effective requires health services research. Questions include the following: How do the characteristics of different health care systems (e.g., managed care) influence the provision of genetic tests and subsequent clinical or preventive services? Is it cost-effective to tailor interventions based on genetic information?  What factors affect the understanding of complex genetic risk information and compliance with proposed intervention strategies such as behavior modification and medical screening?  Example: Colorectal cancer is the second leading cause of death from cancer in the United States; however, when it is detected at an early stage, the 5-year survival rate approaches 90% (11).  People who have a family history of colorectal cancer, an indicator of possible genetic involvement, often develop the disease at a younger age and may thus benefit from regular screening earlier than otherwise recommended (12).  Health services researchers are investigating whether educating patients directly about the importance of knowing one’s family history of disease results in better compliance with screening guidelines than does educating physicians (13).

In summary, while the new gene discoveries provide emerging opportunities for medical research, public health research is also needed to translate genetic discoveries into personal and public health actions that improve health and prevent disease.  Population studies in epidemiology, policy and communication sciences, and health services research are crucial to make genomic medicine a reality in the 21st century.

References

  1. Nathan DG, Fontanarosa PB, Wilson JD. Opportunities for medical research in the 21st century. JAMA 2001;285:533-4.
  2. Collins FS, McKusick VA. Implications of the Human Genome Project for medical science. JAMA 2001;285:540-4. 
  3. Khoury MJ. Human genome epidemiology: translating advances in human genetics into population-based data for medicine and public health. Genetics in Medicine 1999;1:71-4. 
  4. Beskow LM, Khoury MJ, Baker T, et al. The integration of genomics into public health research, policy, and practice in the United States. Community Genetics 2001 (in press). 
  5. ARIC. Atherosclerosis Risk in Communities Study description. [Online]. Available: http://www.bios.unc.edu/cscc/ARIC/aricdesc.html [2001, January 2].
  6. National Heart, Lung, and Blood Institute. The Framingham Heart Study [Online]. Available: http://www.framingham.com/heart/index.htm [2001, February 6]. 
  7. National Center for Health Statistics. National Health and Nutrition Examination Survey: NHANES III stored biologic specimens. Dec 2000. [Online].  Available: http://www.cdc.gov/nchs/about/major/nhanes/coverpage.htm [2001, Feb 6]. 
  8. Price DT, Ridker PM. factor V Leiden mutation and the risks for thromboembolic disease: a clinical perspective. Ann Intern Med 1997;127:895-903. 
  9. Ridker PM, Miletich JP, Hennekens CH, Buring JE. Ethnic distribution of factor V Leiden in 4047 men and women: implications for venous thromboembolism screening. JAMA 1997;277:1305-7.
  10.  Vandenbroucke JP, van der Meer FJM, Helmerhorst FM, Rosendaal FR. Factor V Leiden: should we screen oral contraceptive users and pregnant women? Br Med J 1996;313:127-30. 
  11. National Cancer Institute. CancerNet: PDQ: screening/detection-colorectal cancer-health professionals. Jan 2001. [Online].  Available:  http://cancernet.nci.nih.gov/pdq.html [2001, February 6]. 
  12. Winawer SJ, Fletcher RH, Miller L, et al. Colorectal cancer screening: clinical guidelines and rationale. Gastroenterology 1997;112:594-642. 
  13. CDC. Office of Genomics and Disease Prevention 1999 Highlights. Dec 2000. [Online].  Available: http://www.cdc.gov/genetics/about/hglt1999.htm. [2001 February 6].
 
 

Updated on August 30, 2004