期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 31, 期 1, 页码 55-72出版社
SPRINGERNATURE
DOI: 10.1038/s41431-022-01178-8
关键词
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This scoping review examined the potential societal implications of implementing expanded universal carrier screening (EUCS) based on theoretical studies and empirical evidence. The review identified potential positive implications, such as reduction of ethnic stigmatization and increased equity, as well as potential negative implications, including reinforcement of disability-based stigmatization and societal pressure. However, empirical evidence on these implications is lacking. Further research is needed to determine which societal implications are likely to occur.
Carrier screening aims to identify couples at risk of conceiving children with a recessive condition. Until recently, carrier screening was primarily offered ancestry-based. Technological advances now facilitate expanded universal carrier screening (EUCS). This scoping review aimed to map EUCS's potential societal implications based on both theoretical studies and empirical evidence. To this aim, we performed a CoCites search to find relevant articles, including articles describing carrier screening for at-risk populations, based on five selected query articles. Forty articles were included. Three main potential societal implications were identified: (1) unwanted medicalization, (2) stigmatization and discrimination of carriers and people affected with the conditions screened and (3) challenges in achieving equitable access. Within these themes, potential positive implications are reduction of ethnic stigmatization in ancestry-based offers and increased equity. Potential negative implications are reinforcement of disability-based stigmatization, less possibility for developing expertise in healthcare and societal pressure to partake in screening. Empirical evidence on all these implications is however scarce. In conclusion, both positive and negative potential societal implications of implementing EUCS, primarily theoretical, were identified, even in at-risk groups where evidence is mostly lacking. Empirical research in EUCS pilots is needed to identify which societal implications are likely to occur and therefore should be overcome when implementing EUCS.
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