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Measuring informed choice in population-based reproductive genetic screening: a systematic review
Alice Grace Ames1, Sylvia Ann Metcalfe1, Alison Dalton Archibald2
11] Genetics Education and Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia [2] Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.
European Journal of Human Genetics : EJHG
|May 23, 2014
Summary
Accurate measurement of informed choice is crucial for evaluating genetic screening programs. This review found many existing measures lack sufficient validity and reliability data for reproductive risk screening.
Area of Science:
- Genetics
- Public Health
- Bioethics
Background:
- Informed choice is a key recommendation in genetic screening guidelines.
- Evaluating the effectiveness of genetic screening programs relies on accurate measures of informed choice.
- This is particularly important for population-based genetic screening for reproductive risk.
Purpose of the Study:
- To systematically review and appraise existing measures of informed choice used in population-based genetic screening for reproductive risk.
- To identify the strengths and limitations of current measurement tools.
- To inform the development of more robust evaluation methods for future screening programs.
Main Methods:
- Systematic literature search of databases for studies on genetic screening for reproductive risk in adult populations.
- Inclusion criteria required measurement of screening uptake and knowledge as minimum indicators of informed choice.
- Full-text review of 76 studies identified from 1462 citations, with 34 meeting inclusion criteria.
Main Results:
- Over 20 distinct measures of informed choice were identified across the included studies.
- A significant number of these measures demonstrated inadequate data regarding their validity and reliability.
- The heterogeneity in measurement approaches complicates direct comparisons and program evaluations.
Conclusions:
- Current measures for evaluating informed choice in genetic screening for reproductive risk are often inadequate.
- There is a need for the development and validation of more rigorous and reliable measurement tools.
- Improved measures are essential for accurately assessing the quality of informed choice in genetic screening programs and ensuring ethical practice.
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