ationally 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 research
How can truly informed consent for genetic testing be obtained in public health practice (versus clinical practice, in which personal contact and the opportunity for one-on-one interaction is greater)?
How does informed consent for genetic testing in public health practice differ from informed consent for other public health services?
Should genetic counseling services be provided as part of public health practice even when risks associated with different genetic polymorphisms and mutations vary widely? And how can such services be provided?
How can stored samples on large scale populations (e.g., newborn screening blood spots) be used for epidemiologic research?
Under what circumstances is new consent for archived specimens needed for public health investigations?
Under what circumstances, if any, is it appropriate to make specimens anonymous?
Do situations occur in public health when genetic testing could be done on identifiable specimens without informed consent?
II. Legal issues for public health genetics programs
Should genetic programs in the public health setting be mandated by law?
What legal protections can be used to ensure confidentiality to persons participating in screening programs?
What laws and regulations are needed to ensure the safety and effectiveness of genetic tests?
III. Population access to clinical and preventive services
How can population access to genetic tests and services be ensured?
IV. Privacy concerns in population-based surveillance programs
How can privacy and confidentiality be maintained in the public health setting?
How should population-based disease registries be handled? What are their immediate and long-term benefits? What are their immediate and long-term risks?
How can public health agencies maximize benefits and minimize the risks associated with such registries?
V. Group stigmatization
How can concerns about potential stigmatization of population groups that result from research or testing programs be addressed?
Source: CDC (1997) (11).
- Collins FS. Preparing heal