Defining purpose: A key step in genetic test evaluation

Department of Medical History and Ethics, University of Washington, Seattle, Washington 98195-7120, USA.
Genetics in medicine: official journal of the American College of Medical Genetics (Impact Factor: 7.33). 11/2007; 9(10):675-81. DOI: 10.1097/GIM.0b013e318156e45b
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Available from: Mark Kroese, Sep 03, 2015
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    • "Several studies have been carried out regarding educating medical professionals in genetics and/or genomics (Burke et al., 2007; Button, 2008; Campell, 2003; Kiray Vural et al. 2009; Maradiegue et al. 2005; Savage, 2007; Steinmark, 2009; Welkenhuysen & Evers- Kiebooms, 2002). Scheuner et al. (Scheuner et al. 2008) conducted a systematic review of studies concerning current information available in health services for common chronic adult diseases and noted that the public is interested in genetic testing, although the benefits and limitations of genetic testing for complex conditions are not well understood. "
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    ABSTRACT: OBJECTIVES AND METHODS: Many authors have argued that ethical, legal, and social issues ("ELSIs") should be explicitly integrated into health technology assessment (HTA), yet doing so poses challenges. This discussion may be particularly salient for technologies viewed as ethically complex, such as genetic screening. Here we provide a brief overview of contemporary discussions of the issues from the HTA literature. We then describe key existing policy evaluation frameworks in the fields of disease screening and public health genomics. Finally, we map the insights from the HTA literature to the policy evaluation frameworks, with discussion of the implications for HTA in genetic screening. RESULTS AND CONCLUSIONS: A critical discussion in the HTA literature considers the definition of ELSIs in HTA, highlighting the importance of thinking beyond ELSIs as impacts of technology. Existing HTA guidance on integrating ELSIs relates to three broad approaches: literature synthesis, involvement of experts, and consideration of stakeholder values. The thirteen key policy evaluation frameworks relating to disease screening and public health genomics identified a range of ELSIs relevant to genetic screening. Beyond straightforward impacts of screening, these ELSIs require consideration of factors such as the social and political context surrounding policy decisions. The three broad approaches to addressing ELSIs described above are apparent in the screening/genomics literatures. In integrating these findings we suggest that the method chosen for addressing ELSIs in HTA for genetic screening may determine which ELSIs are prioritized; and that an important challenge is the lack of guidance for evaluating such methods.
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