 Health Care Financing Administration and CDC, include additional specific requirements for cytogenetic testing. A genetics subcommittee of the CLIA Advisory Committee has considered more specific requirements for molecular genetic testing.
Another role for public health could be development of model quality assurance programs, including proficiency testing programs for genetic testing in public health programs such as the Newborn Screening Quality Assurance Program (Chapter 13). These model programs would set standards for testing, monitor the quality of testing, and recommend improvements for laboratory quality assurance.
The need for quality assurance programs in molecular genetic testing is highlighted in the results of a mail survey of 245 molecular genetic testing laboratory directors conducted by McGovern et al. (39). The researchers collected and analyzed data regarding availability of clinical molecular genetic testing, including data on personnel standards and laboratory practices.. They found a wide range of mean quality assurance (QA) scores, with 15% of the laboratories scoring lower than 70%, suggesting that both personnel qualification and laboratory practice standards are in need of improvement to ensure quality in clinical molecular genetic testing laboratories. Evaluation of genetic testing is explored in more detail in Section III (chapters 12 and 13).
III. Development, implementation, and evaluation of population interventions
The translation of advances in human genetics into actual disease prevention opportunities requires strong public health leadership in developing, implementing and evaluating disease intervention strategies. Burgeoning genetic knowledge is accompanied by high expectations that identification of genetically susceptible people will permit tailoring of prevention efforts to improve their effectiveness; yet, the clinical use of genetic information poses risks as well. Social scientists have postulated an adverse effect of genetic testing on psychological well-being and family functioning (40-41). The potential for loss of health, life or disability insurance or other discrimination as a result of genetic testing has also been raised (42). Of equal concern is that genetic tests will be used to identify persons at increased risk of disease before effective measures to reduce their risk are available. In order to formulate sound policy decisions regarding the appropriate use of genetic information in population-based testing programs, a systematic, evidence-based approach should be used to assess the potential benefits and risks of genetic testing.
Since 1968, a list of principles for population-based screening programs have been developed (43) and modified by various groups (e.g., the American College of Medical Genetics (44), and the National Academy of Sciences, ) with respect to genetic screening. More recently, Coughlin et al. have synthesized from the literature emerging elements of a set of principles on the use of genetic information in population-based adult-onset chronic disease prevention programs (46). These principles include (1) assessment of scientific evidence on the relationship between genotype, disease, and genetic test parameters (shown in Table 5); (2) systematic review of the benefits, risks and costs of screening to the target population; (3) a policy development process using consensus conferences, workshops or other approaches to evaluate the appropriateness of population testing; and (4) an evaluation process that should include various measures of access to the testing program as well as impact and effectiveness, including need for revision of testing recommendations based on new scientific evidence.
Thus, an important role of public health will be to develop intervention strategies for diseases with a genetic component, implement pilot demonstration programs and evaluate the impact of interventions on reducing morbidity and mortality in the population. Section IV contains a series of chapters that discuss needs assessment and delivery of genetic services (ch