Knowledge is power? : the role of experiential knowledge in genetically 'risky' reproductive decisions

Knowledge of the condition being tested for is increasingly acknowledged as an important factor in prenatal testing and screening decisions. An analysis of the way in which family members living with an inheritable condition use and value this knowledge has much to add to debates around whether and how this type of knowledge could be made available to prospective parents facing screening decisions. This paper reports on in-depth interviews with sixty-one people (conducted 2007-9), with a genetic condition in their family, Spinal Muscular Atrophy (SMA). Many participants described their intimate familial knowledge of SMA as offering them valuable insights with which they could imagine future lives. Other participants, however, found themselves trapped between their experiential knowledge of SMA and their (often) competing responsibility to maintain the wellbeing of their family. Still others established a ‘hierarchy’ of knowledge to rank the authenticity of different family member’s accounts of SMA in order to discredit, or justify, their decisions. This paper highlights the way in which experiential knowledge of the condition being tested for cannot be unproblematically assumed to be a useful resource in the context of prenatal testing and screening decisions, and may actually constrain reproductive decisions

Experiential knowledge of disability, impairment and illness : the reproductive decisions of families genetically at risk

As the capacities of Reproductive Genetic Technologies expand, would-be parents face an increasing number of reproductive decisions regarding testing and screening for different conditions. Several studies have acknowledged the role that ‘experiential knowledge of disability’ plays in arriving at decisions around the use of these technologies; however, there is a lack of clarity within this literature as to what constitutes ‘experiential knowledge of disability’ and an over-reliance on medical diagnoses as a shorthand to describe different types of experience. Drawing on both social model of disability theory and the literature on chronic illness, this article presents an analysis of data from an in-depth qualitative interview study with 64 people with an inheritable condition in their family, Spinal Muscular Atrophy, and reports their views around reproduction and Reproductive Genetic Technologies. An experiential typology is presented which demonstrates the way in which experiences of ‘disability’, ‘embodied experiences of impairment’ or ‘embodied experiences of illness, death and bereavement’ are strategically privileged in accounts of reproductive decisions, in order to validate reproductive decisions taken, and, specifically, justify use (or non-use) of Reproductive Genetic Technologies. By highlighting the experiential categories within which participants embedded their reproductive decisions, this article draws attention to the porous and collapsible nature of diagnostic categories in the context of reproductive decision-making and genetic risk, and suggests new ways of researching ‘experiential knowledge of disability’ within these contexts which are able to account for the various contours of the embodied lived reality of life with ‘disability’

Accessing the field : disability and the research process

Disability is as much a factor in interactional dynamics as ethnicity, age, gender or sexuality, and therefore its impact on the processes around qualitative research warrants much more systematic attention. Disabled researchers are not confined to disability studies research, although most accounts of the impact of disability on the research process have, thus far, been undertaken within this field. This paper moves beyond this narrow focus to consider the impact of disabled identities and the embodied experiences of impairment on studies involving, primarily, non-disabled people. By reflecting on our experiences as visibly disabled researchers, we highlight some of the practical, ethical and conceptual dilemmas we encountered. Impairments may assist rapport building with participants, but also introduce complex dilemmas concerning whether, when and how to disclose them, and the consequences of doing so. We highlight the centrality of the visibility of the disabled body in mediating these dilemmas, and its part in constraining our responses to them. While we value our commitment to positive readings of disability, we demonstrate that disabled researchers nevertheless undertake research in contexts where disability is assigned meanings disabled people may not share. We argue that all researchers should attend to their own ‘body signifiers’ (whether in relation to ethnicity, wealth, gender, age etc.) and embodied experiences of research processes, as these are integral to research outcomes, the ethics of research, and are a means by which to address power differentials between researcher and participant. This paper addresses a gap in the literature, using our experiences of research to highlight the negotiations and dilemmas faced by visibly disabled researchers. Negotiations of identity prompted by the disabled body in the research process require consideration and should not be ignored

Whose life is worth preserving? Disabled people and the expressivist objection to neonatology

In an age of expansive genomic medicine, the findings of genetic sequencing techniques (whole genome/exome/mtDNA) are increasingly being factored into decisions about the treatment of critically ill neonates. Yet, such decisions remain highly ethically fraught (1). Neonatologists are generally familiar with the ethical complexity of such decisions, and the value judgements about 'worthwhile life' inherent within them. However, they are far less exposed to the views and life experiences of adults and families who currently live with genetic disabilities, many of whom live with the same conditions seen in neonatal intensive care, albeit in milder forms (e.g. SMA types II- IV). The insights of this group have much to offer an understanding of 'worthwhile life' in the context of treatment (and non-treatment) of critically ill babies, yet their voices are seldom heard within these debates. [Abstract copyright: This article is protected by copyright. All rights reserved.

The role of experiential knowledge in the reproductive decision making of families genetically at risk : the case of spinal muscular atrophy

This study reports on the analysis of 59 in-depth interviews conducted with people diagnosed with, or from families affected by, Spinal Muscular Atrophy (SMA). It focuses on attitudes towards, and actual uses of, prenatal testing and selective termination for SMA in reproductive decision making for this group of people, in order to focus on the role of experiential knowledge of SMA and its relationship to expert medical knowledge, within these highly complex decisions. Experiential knowledge has been described in the literature as knowledge derived from experience, whether ‘embodied’ (i.e. sensory) or ‘empathetic’ (i.e. based on the experiences of others). Experiential knowledge has frequently been positioned as being in opposition to, or even conflicting with, medical knowledge, particularly by feminists and disability rights supporters, for whom the tensions between experiential knowledge and medical knowledge have political significance. However, this research found the relationship between expert and experiential knowledge to be both fluid and dynamic, which had important implications for the way in which SMA was conceptualised, understood and responded to by families living with it. Whilst participants’ accounts of SMA were thoroughly grounded in their day-to-day realities with the condition, this knowledge always existed in and through a relationship with expert medical knowledge of SMA. The inherent uncertainties within and between experiential and expert knowledge, and the ways of conceptualising SMA that emerged from them, however, rather than alleviating, instead contributed to, and heightened, some of the social, ethical and moral dilemmas these families experienced around reproductive decision making. Indeed, many participants became trapped within these ways of knowing SMA and the internal contradictions they contained, whilst for others, the strategic privileging of one form of knowledge as ‘authentic’ over the other became the only way to escape some of these dilemmas, and clarify where their reproductive responsibilities lay

"I didn’t take it too seriously because I’d just never heard of it” : experiential knowledge and genetic screening for thalassaemia in the UK

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

Attitudes toward population screening among people living with fragile X syndrome in the UK : 'I wouldn't wish him away, I'd just wish his fragile X syndrome away'

In an age of expanded genetic screening, fragile X syndrome is increasingly considered a candidate condition, given its prevalence, the absence of curative interventions, and its impact on families. However, relatively little research has explored the views of families and people living with fragile X syndrome toward population screening. This study reports on in‐depth interviews with 19 participants: 3 with people diagnosed with a fragile X condition (fragile X syndrome = 2, FXTAS = 1) and 16 people with fragile X syndrome in their family (11 parents, 2 grandparents, 1 spouse, 1 sibling, and 1 aunt) living in the UK. This study reveals the complexity of attitudes within this group and the existence of genuine ambivalence toward different population screening programs. While the overwhelming majority believed that preconception and newborn genetic screening should be made available to the general public, the notion of prenatal screening was far more controversial, with only five participants expressing support for such a program. Expressivist concerns were highlighted equally both by those who supported prenatal screening, as by also those who did not. Participants who supported prenatal screening drew clear distinctions between people with fragile X syndrome and the condition itself, in order to neutralize expressivist concerns and existential threat. However, for others, this division was challenging to maintain. Impairment effects associated with fragile X syndrome, more specifically, its implications for behavior, intellect, and personality, made it harder for some participants to conceptually separate the person from their condition. This study concludes that screening remains a complex issue for families living with genetic conditions and that expressivist concerns affect, and are managed by, families living with different types of disability in contrasting ways. Screening for conditions that affect personality, behavior, and intellect produces unique iterations of expressivism, identity, and stigmatization that families produce specific, and creative, strategies to navigate

The role of experiential knowledge in the reproductive decision making of families genetically at risk : the case of spinal muscular atrophy

This study reports on the analysis of 59 in-depth interviews conducted with people diagnosed with, or from families affected by, Spinal Muscular Atrophy (SMA). It focuses on attitudes towards, and actual uses of, prenatal testing and selective termination for SMA in reproductive decision making for this group of people, in order to focus on the role of experiential knowledge of SMA and its relationship to expert medical knowledge, within these highly complex decisions. Experiential knowledge has been described in the literature as knowledge derived from experience, whether ‘embodied’ (i.e. sensory) or ‘empathetic’ (i.e. based on the experiences of others). Experiential knowledge has frequently been positioned as being in opposition to, or even conflicting with, medical knowledge, particularly by feminists and disability rights supporters, for whom the tensions between experiential knowledge and medical knowledge have political significance. However, this research found the relationship between expert and experiential knowledge to be both fluid and dynamic, which had important implications for the way in which SMA was conceptualised, understood and responded to by families living with it. Whilst participants’ accounts of SMA were thoroughly grounded in their day-to-day realities with the condition, this knowledge always existed in and through a relationship with expert medical knowledge of SMA. The inherent uncertainties within and between experiential and expert knowledge, and the ways of conceptualising SMA that emerged from them, however, rather than alleviating, instead contributed to, and heightened, some of the social, ethical and moral dilemmas these families experienced around reproductive decision making. Indeed, many participants became trapped within these ways of knowing SMA and the internal contradictions they contained, whilst for others, the strategic privileging of one form of knowledge as ‘authentic’ over the other became the only way to escape some of these dilemmas, and clarify where their reproductive responsibilities lay.EThOS - Electronic Theses Online ServiceEconomic and Social Research Council (Great Britain) (ESRC) (PTA-031-2005-00137)GBUnited Kingdo