Disability Experiences and Perspectives Regarding Reproductive Decisions, Parenting, and the Utility of Genetic Services: a Qualitative Study

Background Genomic sequencing technologies have made the possibility of population screening for whole panels of genetic disorders more feasible than ever before. As one of the most common single gene disorders affecting the UK population, hemophilia is an attractive candidate to include on such screening panels. However, very little is known about views toward genetic screening amongst people with hemophilia or their family members, despite the potential for a wide range of impacts on them. Methods Twenty‐two in‐depth qualitative interviews were undertaken to explore the views of adults with hemophilia and their family members, recruited through the Haemophilia Society UK. These interviews were used to develop a survey, the Haemophilia Screening Survey (UK), which was distributed in paper and online format through the support group, receiving 327 returns between January and June 2018. Results Fifty‐seven per cent of the sample supported preconception carrier screening of the population for hemophilia, and 59% supported prenatal carrier screening. Key reasons for support included a desire to reduce pregnancy terminations and increase awareness of hemophilia. Despite support for screening however, 90% of the sample disagreed with pregnancy terminations for hemophilia. Conclusions Families and adults living with hemophilia are more supportive of screening for information and preparation purposes than to prevent boys with hemophilia from being born. A distinction was made between preventing the disease and preventing the lives of people with it, with support shown for the use of screening to achieve the former, but not at the expense of the latter.

Section: Introductionmentioning

confidence: 99%

Preventing lives affected by hemophilia: A mixed methods study of the views of adults with hemophilia and their families toward genetic screening

Boardman

Hale

Gohel

et al. 2019

“…Ahmed et al, 2015;Barlevy, Wasserman, Stolerman, Erskine, & Dolan, 2012;Chen & Schiffman, 2000;Middleton, Hewison, & Mueller, 1998). These attitudes are influenced by personal attitudes about and experiences with disability, as well as disability identity and involvement with disability culture and community 1 (Boardman & Hale, 2018;Boardman, Young, & Griffiths, 2018;Gollust, Thompson, Gooding, & Biesecker, 2003;Roadhouse et al, 2018;Stern et al, 2002).…”

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confidence: 99%

Attitudes of people with inherited retinal conditions toward gene editing technology

Hoffman‐Andrews

Mazzoni

Pacione

et al. 2019

Background The views of people with genetic conditions are crucial to include in public dialogue around developing gene editing technologies. This qualitative study sought to characterize the attitudes of people with inherited retinal conditions (retinitis pigmentosa [RP] and Leber congenital amaurosis [LCA]) toward gene editing. Methods Individuals with RP ( N = 9) and LCA ( N = 8) participated in semi‐structured qualitative interviews about their experience with and attitudes toward blindness, and their views about gene editing technology for somatic, germline, and enhancement applications. Results Participants saw potential benefits from gene editing in general, but views about its use for retinal conditions varied and were influenced by personal perspectives on blindness. Those who felt more negatively toward blindness, particularly those with later onset blindness, were more supportive of gene editing for retinal conditions. Concerns about both germline and somatic editing included: the importance of informed consent; impacts of gene editing on social attitudes and barriers affecting blind people; and worries about “eliminating” blindness or other traits. Conclusion People with RP and LCA have diverse attitudes toward gene editing technology informed by their own lived experience with disability, and many have concerns about how the ways in which it is discussed and implemented might affect them.

“…While the majority of the surrounding literature on reproductive decisions and attitudes within affected families have tended to focus on carrier parents (Al-Jader, Goodchild, & Harper, 1990;Henneman, Kooij, Bouman, & Kate, 2002;Kelly, 2009;McClaren et al, 2010;Miller & Schwartz, 1992;Skinner, Sparkman, & Bailey, 2003;Watson, Williamson, & Chapple, 1991), a limited number of studies have emerged that consider the views of genetically disabled adults (both physically and cognitively impaired) toward prenatal diagnosis and selective reproduction. These studies have produced a complex picture, with some finding support (Chen & Schiffman, 2000;Conway, Allenby, & Pond, 1994;Janssens et al, 2016), reticence (Barter, Hastings, Williams, & Huws, 2016;Janssens et al, 2015;Kelly, 2009), and also ambivalence (Roadhouse et al, 2018;Stern et al, 2002;Taneja, Pandya, Foley, Nicely, & Arnos, 2004;Ward, Howarth, & Rodgers, 2002) toward genetic technologies. Despite these limited studies, there has nevertheless been a general lack of analytic interface between the way(s) in which people experience, and assign value to, their impairment, and how this relates to their views on genetic carrier screening for it.…”

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confidence: 99%

How do genetically disabled adults view selective reproduction? Impairment, identity, and genetic screening

Boardman

Hale

2018

The degree to which participants identified with their impairment, more so than how they valued it, was significant in determining attitudes toward selective reproduction. Those who supported genetic screening viewed their impairment as separate to themselves, while participants who considered their impairment as integral to their identity were most likely to report ambivalent or negative attitudes. Policymakers and stakeholders considering the role of genetic carrier screening panels might usefully engage with adults affected by heritable disease as well as disability identity politics when considering the acceptability and social impact of genetic screening programs.