Mass genetic screening programs have a relatively long history amongst modern genetic services, starting with the screening of newborns for prophylactic therapy against metabolic disorders in the 1960s and continuing into adult carrier testing programs for recessive genetic diseases such as Tay-Sachs (Kaback; Blitzer and McDowell), sickle cell disease (Bowman; Duster), and the thalassemias (Angastiniotis, Kyriakidou, Hadjiminas) in specific at-risk populations in the 1970s. The early adult screening programs shared two features that warranted, and garnered, significant attention within bioethics and health policy (National Academy of Sciences; President's Commission). First, they targeted specific socially-defined populations, which raised issues of group-specific stigmatization and discrimination (Kenan and Schmidt; Markel). Second, the information about carrier status the screens provided was primarily useful for reproductive rather than therapeutic decision-making, raising issues of parental autonomy, paternalism and procreative choice (Juengst, 1988; Thompson et. al).

The 1980s witnessed a second wave of adult genetic screening programs, aimed at detecting pregnant women at risk for delivering children with genetic birth defects and chromosomal abnormalities (Cunningham and Kizer; Haddow, Palomaki, Knight). These programs are intended to have universal application within populations, and have been routinized into the obstetrical care of pregnant women in many countries, raising issues of voluntariness and informed consent (Press and Browner; Marteau). They have also provoked an outspoken reaction from the community of people with disabilities, who argue that such programs work against attempts to reform social attitudes about disability (Parens and Asch).

Today, these three traditional forms of population genetic screening—newborn screening, risk-group carrier testing, and pregnancy screening—continue to make up the vast bulk of population genetic screening activities that are funded and evaluated as state public health initiatives. At the same time, the disease targets of these screening efforts have changed, as public health programs see rationales for shifting specific tests from one form of testing to another. Thus, many states have added sickle cell testing to their universal newborn screening panels (Olney), and calls have been made for universal screening of pregnant women for maternal PKU (Kaye, et. al) and fetal hemoglobinopathies (Cuckle). Moreover, genetic tests originally reserved for clinical use in families at risk for diseases such as cystic fibrosis or fragile-X syndrome have also begun to be used as population screens, both as part of newborn screening panels and prenatal testing programs (Caskey; Cuckle). In all such shifts, the tests have moved in the direction of earlier and more universal screening.

The new wave of interest in public health genetics generated by advances in genomic science focuses on tests that would have universal application within multi-ethnic populations, like pregnancy testing, but, like newborn screening, would measure the tested individuals' personal risk for disease, with an eye toward prophylactic action. Moreover, in addition to screening for signs of rare genetic diseases, like all the traditional forms of screening, the emphasis is on the detection of molecular markers that confer statistically increased risks for more complex, and more common, chronic diseases of adulthood, like coronary artery disease, cancer, or diabetes (Khoury, Burke, Thompson).

The discussion of using these new tests as public health tools has been dominated by questions of feasibility and utility (Omenn, Holtzman). As one review concludes:

Several issues must be addressed, however, before such tests can be recommended for population-based prevention programs. These issues include the adequacy of the scientific evidence, the balance of risks and benefits, the need for counseling and informed consent, and the costs and resources required. Ongoing assessment of the screening program and quality assurance of laboratory testing are also needed. (Burke et al., p. 201)

These concerns mirror those expressed in the literature on using predictive genetic risk assessments as a part of medical care in clinical settings (Geller, et. al.). The use of these same tests as population screening tools would place them in the larger context of the existing population genetic screening programs, however, and it is in that context that they become most bioethically challenging. As these tests become integrated into the shifting mix of existing population-based prevention programs, they expose fundamental questions about the goals of the enterprise that have not been so apparent in the past. What should population-based genetic screening strive to accomplish, and by what criteria should one measure success?

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