Population screening for spinal muscular atrophy: A mixed methods study of the views of affected families

Abstract

Autosomal recessive conditions are a significant health burden with few treatments. Population carrier screening has been suggested as a means to tackle them. Little is known about the views of affected families despite the potential for direct impacts on them. Data are presented on attitudes among families affected by Spinal Muscular Atrophy (SMA) toward two population screening programs, pre‐conception, and prenatal. Data were gathered through qualitative interviews (n = 36) and a survey (n = 337). Eighty‐two survey participants had SMA and 255 were family members. The majority were in favor of screening (75%). Reasons for supporting pre‐conception screening support were a belief that it would reduce SMA‐related terminations and raise awareness of SMA in the population. For prenatal screening, reasons for support included a belief in the importance of informed decision‐making and the need to reduce suffering. Key reasons for non‐support of pre‐conception screening included concerns about carrier stigmatization and social engineering. For prenatal screening, concerns focused on the collateral loss of high quality of life lives affected by SMA. This study highlights that those affected by SMA are predominantly in favor of screening, although pre‐conception screening is most favored. While family members and adults with SMA had largely consistent views, perceptions varied according to the severity (type) of SMA, with those affected by SMA type II the least likely to support screening. These findings suggest that screening for SMA is a complex issue for affected families, underscoring the need to consider and include their views when planning and implementing screening programs. © 2016 Wiley Periodicals, Inc.

Impairment Experiences, Identity and Attitudes Towards Genetic Screening: the Views of People with Spinal Muscular Atrophy

“…We have previously shown that adults with Type II have a more positive view on the disease than adults with Type III (Boardman et al 2017; Table 4). Similar differences to those reported between Types II and III were also seen between adults with Type II and IV SMA (Table 4).…”

“…The data reported in this study are derived from a larger study of attitudes towards screening for SMA amongst both adults with SMA and their family members, the findings of which are reported elsewhere (Boardman et al 2017). While family members are an important stakeholder group in debates around genetic screening in their own right, people with genetic conditions have unique experiential knowledge of the condition in question and are set to affected by population genetic screening in very specific ways (Chen and Schiffman 2000; Allyse et al 2015).…”

“…Details of the development of the SMA Screening Survey (UK) have been presented more fully elsewhere (Boardman et al 2017). In brief, the overarching themes from the qualitative analysis were used to develop both the key domains, but also the individual questions within the survey.…”

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

“…This study has revealed that families and adults affected by hemophilia are largely aware of the range of possible impacts for them should screening be introduced and these concerns were key to explaining why support for preconception and prenatal genetic screening were markedly lower among families and adults living with hemophilia than has been observed in relation to other genetic conditions, such as Spinal Muscular Atrophy (Boardman et al, ). Indeed, the transition of hemophilia from a condition that was fatal in childhood in the 1970s, to one that is largely treatable, is likely to have influenced families’ views on the necessity and value of screening for the disorder.…”

Newborn screening for haemophilia: The views of families and adults living with haemophilia in the UK

“…However, in spite of this scepticism around the reproductive value of screening for haemophilia, there was nevertheless support for the idea that NGS could be used by the parents of already affected children, to inform decisions about their future pregnancies. This finding is noteworthy as it suggests that the reproductive decisions and attitudes of already affected families are viewed differently by the haemophilia community than those made by the general population, highlighting the positive way that “experiential knowledge” and insight are valued in the appraisal of future affected lives . Indeed, the families and adults who participated in this survey had direct—and often extensive—knowledge of life with haemophilia, with 136/327 participants (42%) (Table ) of the sample having more than two people in their family living with haemophilia—a much higher rate of inter‐family recurrence than has been noted by studies of screening attitudes within families affected by other genetic conditions …”