Societal implications of expanded universal carrier screening: a scoping review

• Type of Material: Article
• Authors: Lieke M van den Heuvel, University of Groningen; Nina van den Berg, University of Groningen; Anna Janssens, Emory University; Erwin Birnie, University of Groningen; Lodewij Henneman, Vrije Universiteit Amsterdam; Wybo J Dondorp, Maastricht University; Mirjam Plantinga, University of Groningen; Irene M van Langen, University of Groningen
• Language: English
• Date: 2022-09-12
• Publisher: Springer Nature [academic journals on nature.com]
• Publication Version: Final Published Version
• Copyright Statement: © The Author(s) 2022
• License: Creative Commons Attribution 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.1038/s41431-022-01178-8
• Title of Journal or Parent Work: EUROPEAN JOURNAL OF HUMAN GENETICS
• Volume: 31
• Issue: 1
• Start Page: 55
• End Page: 72
• Grant/Funding Information: This study was funded by the Netherlands Organisation for Health Research and Development (ZonMw, project number: 854020002).
• Keywords: Medical ethics; Genetic testing
• Research Categories: Health Sciences, Epidemiology; Health Sciences, Public Health

Abstract

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.