Abstract
Members of the public face particular challenges when undergoing reproductive genetic screening. Lack of family history with genetic disease has been identified as a key barrier affecting screening uptake and responses to genetic risk. This study explores this obstacle using beta thalassaemia as a case study. Fifteen in‐depth qualitative interviews were conducted exploring the reproductive views and decisions of people at risk of transmitting thalassaemia. Eleven participants had thalassaemia themselves and/or were members of an affected family. Four participants were identified as thalassaemia carriers through genetic screening programmes with no family history. Notable differences were observed between these two groups. For thalassaemic individuals and families, past experience clarified and facilitated their sense of reproductive responsibility, however carriers struggled to relate to, and incorporate the information into their lives. It was witnessing their child becoming symptomatic—rather than receiving a diagnosis or genetic risk information per se that had the most substantial influence on carriers’ subsequent views and decisions. Educational resources used to support genetic screening programmes would benefit from an engagement with the experiential accounts of life with genetic disease in order to more effectively bridge the chasm in knowledge and understanding between affected families and the general public, towards whom expansive genetic screening is aimed.
Highlights
As new reprogenetic technologies—such as those used to undertake whole genome sequencing—are becoming increasingly subsumed within standard National Health Service care, the possibility of their use as a population‐level genetic screening tool is being consid‐ ered in earnest, both within and beyond the UK (Hasegawa, Fergus, Ojeda, & Au, 2011; Tarini & Goldenberg, 2012)
15 participants were interviewed and an analysis of all of their accounts contributed to the thematic framework, four partici‐ pants have been selected for detailed presentation within this paper. These four accounts were selected on the basis of their eloquent representation of the views and experiences of other par‐ ticipants within the two groups as the concept of experien‐ tial knowledge is so critical to this analysis, a focus on the narratives of four participants allows for a more detailed and nuanced explora‐ tion of participants’ stories and their relationship to their reproduc‐ tive decisions and attitudes, which would not have been possible in detail for all 15 participants
Uptake of thalassaemia carrier screening within the UK population is high, it has been suggested that many pregnant women are not even aware it is even being carried out or consider it a mandatory part of prenatal care (Cousens et al, 2010), the reac‐ tions of shock and disbelief to positive screen results both within this study and the wider literature highlight the difficulties pregnant women and their partners have in assimilating into the world of ge‐ netic disease in the absence of prior experience of the condition
Summary
As new reprogenetic technologies—such as those used to undertake whole genome sequencing—are becoming increasingly subsumed within standard National Health Service care, the possibility of their use as a population‐level genetic screening tool is being consid‐ ered in earnest, both within and beyond the UK (Hasegawa, Fergus, Ojeda, & Au, 2011; Tarini & Goldenberg, 2012). Recent research suggests that when combined, the prevalence of the three most common genetic disorders (Cystic Fibrosis, Fragile X syndrome and Spinal Muscular Atrophy [SMA]) is comparable to that of Down's Syndrome (Archibald et al, 2018)—a condition routinely screened for within standard NHS antenatal care This prevalence, when considered alongside the unpredictable and variable prognoses associated with many of these genetic disorders and their relatively 20 limited treatment options all contribute to the mounting case in favour of offering carrier screen‐ ing programmes to the general public (Gregg et al, 2014; Nazareth, Lazarin, & Goldberg, 2015; Plantinga et al, 2016)
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