“It's about having the choice”: Stakeholder perceptions of population‐based genetic carrier screening for fragile X syndrome

Abstract

This project explored, the views of key stakeholders regarding population-based genetic carrier screening for fragile X syndrome (FXS). Interviews and focus groups were conducted with healthcare providers, relatives of individuals with FXS and members of the general population. Data were transcribed verbatim and coded into themes. 188 individuals took part in this study. Perceived benefits of carrier screening included: learning the risk of having a child with FXS; learning the risk of fragile X-associated primary ovarian insufficiency; and the opportunity for carriers to access reproductive options. Concerns included: the emotional impact of screening and receiving a carrier result; the predictive testing nature of the carrier test with respect to fragile X-associated tremor/ataxia syndrome; potential confusion created by receiving an intermediate result; and implications of genetic screening for society. Overall, population-based genetic carrier screening was perceived to be acceptable provided it is optional and offered at an appropriate stage of life. With the support of the participants to promote individual choice by offering a population-based carrier screening program for FXS, it is essential to carefully consider how screening might be offered in order to ensure broad accessibility and facilitation of decision-making.

Similar prevalence of expanded CGG repeat lengths in the fragile X mental retardation I gene among infertile women and among women with proven fertility: a prospective study

“…[3][4][5] In addition, carrier status testing would also enable women into timely reproductive planning. 6 Even in the absence of a family history of the fragile X syndrome, the cost-effectiveness of prenatal genetic testing programs identifying the carrier status of women has been demonstrated. 7 The psychosocial consequences of preconceptional CGG repeat length screening have been studied in great detail and were found to be in favor of a generalized screening.…”

“…7 The psychosocial consequences of preconceptional CGG repeat length screening have been studied in great detail and were found to be in favor of a generalized screening. [8][9][10] In addition, the attitudes of key medical care stakeholders toward the challenges of general population-based screening programs were found to be favorable, 6,11 and preconceptional testing was most endorsed. 12 Despite these well-studied advantages of a population-based screening and the wide acceptance among key stakeholders of medical care, screening programs have so far only been conducted in research settings.…”

“It gives them more options”: preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare

“…We previously reported results relating to stakeholders' perceptions of the acceptability of populationbased carrier screening for FXS (Archibald et al 2013). Here, we present the views of these stakeholders regarding practicalities of, and strategies for, offering population-based carrier screening for FXS.…”

“…There are also health implications for carriers of the premutation : females are at risk of fertility problems and early menopause (Wittenberger et al 2007), a condition referred to as fragile X-associated primary ovarian insufficiency (McConkie-Rosell et al 2007), and males, and to a lesser extent females, may develop fragile Xassociated tremor-ataxia syndrome (FXTAS), a late-onset neurodegenerative condition (Hagerman et al 2001). Further research will assist in fully understanding the significance of intermediate alleles (45)(46)(47)(48)(49)(50)(51)(52)(53)(54) identified in the general population; however, any screening program would need to have strategies in place to manage these results (Archibald et al 2013).…”

“…The need for appropriate education and genetic counseling has been emphasized as has the importance of research exploring psychosocial impacts of such screening (Finucane et al 2012;Sherman et al 2005). Research indicates that population screening for FXS is generally perceived favorably by families and healthcare providers (Acharya and Ross 2009;Archibald et al 2013;Ryynanen et al 1999;Skinner et al 2003) as well as individuals offered screening in research contexts (Anido et al 2005(Anido et al , 2007Archibald et al 2009;Fanos et al 2006;Metcalfe et al 2008;Sherman et al 2005), and there appears to be a preference for screening offered before pregnancy (Acharya and Ross 2009;Archibald et al 2013;Skinner et al 2003). As carrier screening approaches have varied, there is no clear consensus on how best to deliver population-based carrier screening for FXS.…”