Societal implications of expanded universal carrier screening: a scoping review

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.

Should genes for non‐syndromic hearing loss be included in reproductive genetic carrier screening: Views of people with a personal or family experience of deafness

“…Participants in this study raised concerns that inclusion of deafness may increase stigmatization of deaf people, resulting in discrimination and a future society lacking diversity and less acceptance of difference. Whilst we are not aware of empirical evidence of increased stigmatization or discrimination following uptake of RGCS, the potential negative implications of offering populationwide RGCS have previously been raised (Matar et al, 2019a(Matar et al, , 2019bvan den Heuvel et al, 2023). Parents who continued a pregnancy where a genetic condition was detected or suspected prenatally have reported receiving negative and discouraging comments from both family and healthcare professionals (Hickerton et al, 2012).…”

“…Concerns about the potential for RGCS to 'shape society' have been expressed by healthcare providers and those offered population-based carrier screening (van den Heuvel et al, 2023).…”

“…Concerns about the potential for RGCS to ‘shape society’ have been expressed by healthcare providers and those offered population‐based carrier screening (van den Heuvel et al, 2023). Offers of RGCS that includes genetic conditions with a wider range of severity in their presentation have been criticized for expressing a discriminatory view of those living with the conditions screened for.…”

“…The current landscape for offering RGCS is often commercially driven, and providers make the decision on which conditions to include in an offer of RGCS. While population wide RGCS may promote reproductive autonomy for all prospective parents, it also raises ethical, societal and psychological concerns for society and people living with the genetic conditions included in screening (van den Heuvel et al, 2023).…”