es and opportunities of genetic technology.
With acceleration of the discovery of human genetic variation and associated diseases in the next few years, public health professionals will not only be confronted with but will help develop, analyze and disseminate a large body of scientific information that will guide public health action. The potential for inappropriate or premature use of genetic information without adequate protections for privacy and confidentiality will demand public health leadership in evaluating and resolving the many ethical, legal and social issues associated with genetic information. In the not too distant future, however, disease prevention and health promotion programs will routinely consider whether or not to use genetic information to help target intervention activities in order to maximize benefit and minimize costs and harm to individuals. For this to occur, however, genetics needs to be incorporated into training programs for numerous fields (e.g., epidemiology, laboratory sciences, legislation and policy, medicine, nursing, behavioral and social sciences and communication sciences). This will require changes in professional training programs and targeted retraining of many public health professionals. Only then can we achieve a true integration of human genetics into public health practice in the 21st century.
Number of Genes*
*Includes identified or mapped genes.
Source: Online Mendelian Inheritance in Man [database] (1999) (3).
Genetics in Medicine
|Public Health Genetics and Community Genetics
Genetics in Public Health
Public Health Functions
|Public health assessment|
|Evaluation of genetic testing|
|Development, implementation, and evaluation of population interventions|
|Communication and information dissemination|
|Partnerships and coordination|
|Ethical, legal, and social issues|
|Education and training|
Source: Adapted from CDC (1997) (11).
|Assess the prevalence of gene variants in different populations.||Using the National Health and Nutrition Examination Survey III, a nationally representative sample of the U.S. population, to assess the prevalence of gene variants in population subgroups (24).|
|Assess the magnitude of disease risk associated with gene variants in different populations.||Using population-based, case-control studies of neural tube defects to assess the etiologic role of an allelic variant in the methylene tetrahydrofolate reductase enzyme (58).|
|Assess the contribution of gene variants to the occurrence of a disease in different populations.||Using population-based cancer registries to assess the contribution of BRCA1 mutations to the risk of breast cancer in the general population (59).|
|Assess the magnitude of disease risk associated with gene-gene and gene-environment interactions in different populations.||Using case-control studies to assess the interaction between the factor V Leiden and the use of oral contraceptives in relation to the risk of venous thrombosis (60).|
|Assess the clinical validity and utility of genetic tests in different populations.||Using a randomized clinical trial to assess the impact of newborn screening for cystic fibrosis in Wisconsin on height and weight in the first 10 years of life (61).|
|Evaluate the determinants and impact of using genetic tests and services in different populations.||Using newborn screening programs for sickle cell disease in three states to evaluate gaps in utilization of health care (e.g., penicillin prophylaxis) and the determinants of morbidity and mortality (62).|
|Analytic validity||How good is the test in predicting underlying genotype? (i.e., sensitivity, specificity and predictive values with respect to genotype)?|
|Clinical validity||How good is the test in diagnosing or predicting phenotype or disease? (i.e., sensitivity, specificity and predictive values with respect to phenotype or disease)?|
|Clinical utility||What are the benefits and risks that accrue from genetic tests and ensuing interventions?|
Source: Holtzman and Watson (1997) (37).
I. Informed consent in public health genetic resear