RESUMO
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.
Assuntos
Síndrome do Cromossomo X Frágil , Atitude , Feminino , Síndrome do Cromossomo X Frágil/diagnóstico , Síndrome do Cromossomo X Frágil/genética , Testes Genéticos , Humanos , Recém-Nascido , Masculino , Gravidez , Diagnóstico Pré-Natal , Reino UnidoRESUMO
As population-level carrier screening panels for reprogenetic information emerge globally, conditions to be included, and the timing of implementation is widely debated. Thalassemia is the only condition for which population-based prenatal carrier screening is offered in the UK. However, little is known about the views and experiences of the UK thalassemia-affected community toward this screening or other forms of genetic screening for thalassemia (newborn, preconception), despite the range of direct consequences of screening programmes for this group. Using a mixed-methods integrative analysis (qualitative interviews n = 20 and quantitative survey n = 80), this study outlines the experiences and attitudes of adults with thalassemia, their family members, and screen-identified thalassemia carriers toward preconception, prenatal, and newborn screening for thalassemia. The majority of participants described thalassemia as a burdensome condition with a range of negative impacts, which contributed to their strong support for screening in all its potential formats. However, the data also highlight the challenges of each screening mode for this group, reflected in the high level of value conflict in participants' accounts and decisions. Cultural, social, and (to a lesser extent) religious factors were found to mitigate against the advantages of early screens, particularly within faith communities. Social stigma emerged as key to this process, informing the way that thalassemia severity was not only perceived, but also experienced by affected adults, which ultimately influenced screening uptake and outcomes. These findings suggest that cultural and social sensitivity is as important as the mode of screening delivery itself, if the iatrogenic and unintended harms of screening-particularly the social/psychological burden of value conflict-are to be adequately addressed and minimized.
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Testes Genéticos/métodos , Talassemia/diagnóstico , Adulto , Atitude , Família/psicologia , Feminino , Humanos , Recém-Nascido , Masculino , Triagem Neonatal , Gravidez , Diagnóstico Pré-Natal , Talassemia/genética , Reino Unido , Adulto JovemRESUMO
INTRODUCTION: As genomic sequencing become more efficient and cost-effective, the number of conditions identified through newborn screening globally is set to dramatically increase. Haemophilia is a candidate condition; however, very little is known about the attitudes of the haemophilia community towards screening. AIM: This study aimed to outline the perspectives of adults with haemophilia and their families towards newborn screening. METHODS: A paper and online survey on screening were distributed to every family known to the Haemophilia Society UK. Data collection occurred between January and June 2018. In total, 327 participants completed the survey: 76% were a relative of a person with haemophilia and 24% had haemophilia themselves; 83% were living with haemophilia A and 17% with haemophilia B. RESULTS: The vast majority supported newborn screening (77%) and preferred it to other forms of screening (preconception or prenatal). Participants supported newborn screening primarily because they viewed it as a means to facilitate early support and treatment, facilitate informed decisions about future pregnancies and prevent the "diagnostic odyssey." The 23% who did not support the screen did not associate these particular benefits with newborn screening. CONCLUSION: Haemophilia emerged from this analysis as a condition that the vast majority of participants considered a "liveable" disability and one best suited to newborn screening programmes that could improve support to affected families rather than reduce the birth rate of affected children.
Assuntos
Família/psicologia , Hemofilia A/diagnóstico , Hemofilia B/diagnóstico , Adolescente , Adulto , Idoso , Feminino , Testes Genéticos , Hemofilia A/genética , Hemofilia A/psicologia , Hemofilia B/genética , Hemofilia B/psicologia , Humanos , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Triagem Neonatal , Inquéritos e Questionários , Reino Unido , Adulto JovemRESUMO
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.
Assuntos
Testes Genéticos , Conhecimentos, Atitudes e Prática em Saúde , Talassemia/diagnóstico , Talassemia/genética , Adulto , Idoso , Tomada de Decisões , Feminino , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Reino UnidoRESUMO
PURPOSE: Autosomal recessive conditions, while individually rare, are a significant health burden with limited treatment options. Population carrier screening has been suggested as a means of tackling them. Little is known, however, about the attitudes of the general public towards such carrier screening and still less about the views of people living with candidate genetic diseases. Here, we focus on the role that such experience has on screening attitudes by comparing views towards screening of people with and without prior experience of the monogenetic disorder, Spinal Muscular Atrophy. METHODS: An exploratory sequential mixed methods design was adopted. In-depth qualitative interviews were used to develop two surveys. The surveys addressed attitudes towards carrier screening (pre-conceptual and prenatal) for SMA. PARTICIPANTS: 337 participants with SMA experience completed the SMA Screening Survey (UK) and 336 participants with no prior experience of SMA completed the UK GenPop Survey, an amended version of the SMA Screening Survey (UK). RESULTS: The majority of both cohorts were in favour of pre-conception and prenatal carrier screening, however people with experience of type II SMA were least likely to support either. Key differences emerged around perceptions of SMA, with those without SMA experience taking a dimmer view of the condition than those with. CONCLUSION: This study underscores the significance of prior experience with the condition to screening attitudes. It highlights the need for accurate and high-quality educational resources to support any future carrier screening programmes, that particularly in relation to rare genetic disorders like SMA that will fall outside the remit of everyday experience for the majority of the population.
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Triagem de Portadores Genéticos/métodos , Conhecimentos, Atitudes e Prática em Saúde , Atrofia Muscular Espinal/genética , Adulto , Família , Feminino , Triagem de Portadores Genéticos/ética , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e QuestionáriosRESUMO
Developments in genetics are rapidly changing the capacity and scope of screening practices. However, people with genetic conditions have been under-represented in the literature exploring their implications. This mixed methods study explores the attitudes of people with Spinal Muscular Atrophy (SMA) towards three different population-level genetic screening programmes for SMA: pre-conception, prenatal and newborn screening. Drawing on qualitative interviews (n = 15) and a survey (n = 82), this study demonstrates that more severely affected individuals with early-onset symptoms (Type II SMA), are less likely to support screening and more likely to view SMA positively than those with milder, later onset and/or fluctuating symptoms (Types III/ IV SMA). Indeed, this clinically milder group were more likely to support all forms of screening and view SMA negatively. This paper highlights that screening is a complex issue for people with genetic conditions, and the nature of impairment experiences plays a critical role in shaping attitudes.
Assuntos
Triagem de Portadores Genéticos , Testes Genéticos , Conhecimentos, Atitudes e Prática em Saúde , Atrofia Muscular Espinal/psicologia , Triagem Neonatal/psicologia , Feminino , Humanos , Recém-Nascido , Masculino , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/genéticaRESUMO
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.
Assuntos
Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/epidemiologia , Vigilância da População , Adulto , Idade de Início , Família , Feminino , Dosagem de Genes , Aconselhamento Genético , Testes Genéticos , Humanos , Entrevistas como Assunto , Masculino , Programas de Rastreamento , Pessoa de Meia-Idade , Razão de Chances , Fenótipo , Cuidado Pré-Concepcional/métodos , Diagnóstico Pré-Natal/métodos , Índice de Gravidade de Doença , Inquéritos e Questionários , Proteína 2 de Sobrevivência do Neurônio Motor/genéticaRESUMO
Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant death worldwide. However, due to a lack of treatments, SMA has historically fallen short of Wilson-Jungner criteria. While studies have explored the acceptability of expanded newborn screening to the general public, the views of affected families have been largely overlooked. This is in spite of the potential for direct impacts on them and their unique positioning to consider the value of early diagnosis. We have previously reported data on attitudes toward pre-conception and prenatal genetic screening for SMA among affected families (adults with SMA [n = 82] and family members [n = 255]). Here, using qualitative interview [n = 36] and survey data [n = 337], we report the views of this same cohort toward newborn screening. The majority (70%) of participants were in favor, however, all subgroups (except adults with type II) preferred pre-conception and/or prenatal screening to newborn screening. Key reasons for newborn screening support were: (1) the potential for improved support; (2) the possibility of enrolling pre-symptomatic children on clinical trials. Key reasons for non-support were: (1) concerns about impact on the early experiences of the family; (2) inability to treat. Importantly, participants did not view the potential for inaccurate typing as a significant obstacle to the launch of a population-wide screening program. This study underscores the need to include families affected by genetic diseases within consultations on screening. This is particularly important for conditions such as SMA which challenge traditional screening criteria, and for which new therapeutics are emerging.
Assuntos
Aconselhamento Genético , Atrofia Muscular Espinal/diagnóstico , Triagem Neonatal , Estudos de Coortes , Diagnóstico Precoce , Família , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Recém-Nascido , Masculino , Atrofia Muscular Espinal/fisiopatologia , GravidezAssuntos
Pessoas com Deficiência , Neonatologia , Feminino , Humanos , Gravidez , Diagnóstico Pré-NatalRESUMO
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 about whether and how this type of knowledge could be made available to prospective parents facing screening decisions. This article reports on in-depth interviews (conducted between 2007 and 2009) with 61 people with a genetic condition, spinal muscular atrophy (SMA) in their family. Many participants reported that their intimate familial knowledge of SMA offered 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 article 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 decisions and may actually constrain reproductive decisions.
Assuntos
Predisposição Genética para Doença , Conhecimentos, Atitudes e Prática em Saúde , Comportamento Reprodutivo/psicologia , Feminino , Humanos , Masculino , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/genética , Pesquisa Qualitativa , Reino UnidoRESUMO
PROBLEM: Choice has been a key aspect of maternity care policy in England since 1993, however a gap remains between the birthplaces women want and where they actually give birth. BACKGROUND: The latest maternity care policy in England acknowledges that women are not being given 'real choice' in their care and often being told what to do. This is problematic since unfulfilled preferences have been linked to negative childbirth experiences. AIM: To understand the factors affecting women's birthplace preferences and decisions, and why these might differ. METHODS: A sequential mixed-methods study consisting of an online questionnaire (n=49) and follow-up interviews (n=14) with women who were either currently pregnant or had recently given birth in a metropolitan region in England. FINDINGS: Most women in this study said that they would prefer to give birth in an alongside maternity unit because it offered a compromise between the risk of poor outcomes and risk of unnecessary medicalisation. However, the majority of women's preferences were medicalised at the point of decision-making as the minimisation of clinical risk was ultimately prioritised. DISCUSSION: Women's preference for the alongside maternity unit demonstrates the growing popularity for this less medicalised, 'alternative' birthplace option. However pre-existing conditions, reproductive histories and experiential knowledge influence women's decision to give birth in the labour ward and suggests that minimising clinical risk is women's key priority. CONCLUSION: Women navigate complex and competing discourses when forming childbirth preferences and making decisions, selectively considering different risks and knowledges to make the decisions right for them.
Assuntos
Comportamento de Escolha , Tomada de Decisões , Preferência do Paciente , Humanos , Feminino , Gravidez , Adulto , Inquéritos e Questionários , Inglaterra , Parto/psicologia , Entorno do Parto , Pesquisa Qualitativa , Parto Obstétrico/psicologia , Gestantes/psicologia , Serviços de Saúde MaternaRESUMO
The project aimed to gather, analyse, and compare the views of stakeholders about the proposed UK cystic fibrosis (CF) screening protocol incorporating next generation sequencing (NGS). The study design was based on principles of Q-methodology with a willingness-to-pay exercise. Participants were recruited from 12 CF centres in the UK. The study contained twenty-eight adults who have experience with CF (parents of children with CF (n = 21), including parents of children with CF transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS)/CF screen positive-inconclusive diagnosis (CFSPID), an uncertain outcome (n = 3), and adults with CF (n = 4)), and nine health professionals involved in caring for children with CF. Parents and health professionals expressed a preference for a sensitive approach to NGS. This was influenced by the importance participants placed on not missing any children with CF via screening and the balance of harm between missing a case of CF compared to picking up more children with an uncertain outcome (CRMS/CFSPID). Given the preference for a sensitive approach, the need for adequate explanations about potential outcomes including uncertainty (CFSPID) at the time of screening was emphasized. More research is needed to inform definitive guidelines for managing children with an uncertain outcome following CF screening.
RESUMO
There is increasing interest in using extended genetic sequencing (EGS) in newborn screening (NBS) for cystic fibrosis (CF). How this is implemented will change the number of children being given an uncertain outcome of CRMS/CFSPID (cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome/CF Screen Positive Inconclusive Diagnosis), probable carrier results, and the number of missed CF diagnoses. An international survey of CF health professionals was used to gather views on two approaches to EGS-specific (may reduce detection of CRMS/CFSID but miss some CF cases) versus sensitive (may increase detection of CRMS/CFSPID but avoid missing more CF cases). Health professionals acknowledged the anxiety caused to parents (and health professionals) from the uncertainty surrounding the prognosis and management of CRMS/CFSPID. However, most preferred the sensitive approach, as overall, identifying more cases of CRMS/CFSPID was viewed as less physically and psychologically damaging than a missed case of CF. The importance of early diagnosis and treatment for CF to ensure better health outcomes and reducing diagnostic odysseys for parents were highlighted. A potential benefit to identifying more children with CRMS/CFSPID included increasing knowledge to obtain a better understanding of how these children should best be managed in the future.
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Despite no consensus on the definition of 'seriousness', the concept is regularly used in policy and practice contexts to categorise conditions, determine access to genetic technologies and uses of selective pregnancy termination. Whilst attempts have been made to create taxonomies of genetic condition seriousness to inform clinical and policy decision-making, these have often relied on condition appraisals made by health and genetics professionals. The views of people with genetic conditions have been largely under-represented. This study explores the concept of seriousness through the perspectives of people with a range of 'clinically serious' conditions (fragile X conditions, spinal muscular atrophy, cystic fibrosis, haemophilia, thalassaemia). Attitudes towards suffering, quality of life (QoL) and selective pregnancy termination were elucidated from 45 in-depth qualitative interviews and 469 postal/online surveys. The majority of participants reported good health/wellbeing, and the capacity for good QoL, despite experiencing suffering with their condition. Notably, participants with later-onset conditions held more negative views of their health and QoL, and were more likely to view their condition as an illness, than those with early-onset conditions. These participants were more likely to see their condition as part of their identity. Whilst most participants supported prenatal screening, there was little support for selective termination. Moreover, social environment emerged as a critical mediator of the experience of the condition. The complex and rich insights of people living with genetic conditions might usefully be incorporated into future genetic taxonomies of 'seriousness' to ensure they more accurately reflect the lived reality of those with genetic conditions.
Assuntos
Atrofia Muscular Espinal , Qualidade de Vida , Atitude , Feminino , Humanos , Atrofia Muscular Espinal/genética , Gravidez , Diagnóstico Pré-Natal , Inquéritos e QuestionáriosRESUMO
Reproductive genetic carrier screening identifies couples with an increased chance of having children with autosomal and X-linked recessive conditions. Initially only offered for single conditions to people with a high priori risk, carrier screening is becoming increasingly offered to individuals/couples in the general population for a wider range of genetic conditions. Despite advances in genomic testing technology and greater availability of carrier screening panels, there is no consensus around which types of conditions to include in carrier screening panels. This study sought to identify which types of conditions parents of children with a genetic condition believe should be included in carrier screening. Participants (n = 150) were recruited through Royal Children's Hospital (RCH) Melbourne outpatient clinics, the Genetic Support Network of Victoria (GSNV) and a databank of children with hearing loss (VicCHILD). This study found that the majority of participants support offering carrier screening for: neuromuscular conditions (n = 128/134, 95.5%), early fatal neurodegenerative conditions (n = 130/141, 92.2%), chronic multi-system disorders (n = 124/135, 91.9%), conditions which cause intellectual disability (n = 128/139, 92.1%) and treatable metabolic conditions (n = 120/138, 87.0%). Views towards the inclusion of non-syndromic hearing loss (n = 88/135, 65.2%) and preventable adult-onset conditions (n = 75/135, 55.6%) were more mixed. Most participants indicated that they would use reproductive options to avoid having a child with the more clinically severe conditions, but most would not do so for clinically milder conditions. A recurring association was observed between participants' views towards carrier screening and their lived experience of having a child with a genetic condition.
Assuntos
Atitude , Triagem de Portadores Genéticos/normas , Doenças Genéticas Inatas/psicologia , Pais/psicologia , Técnicas Reprodutivas/normas , Adulto , Idoso , Tomada de Decisões , Feminino , Doenças Genéticas Inatas/classificação , Doenças Genéticas Inatas/diagnóstico , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
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.
Assuntos
Atitude , Triagem de Portadores Genéticos/ética , Aconselhamento Genético/psicologia , Hemofilia A/psicologia , Pacientes/psicologia , Adolescente , Adulto , Idoso , Família/psicologia , Feminino , Hemofilia A/genética , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários , Reino UnidoRESUMO
BACKGROUND: Genomic medicine is rapidly evolving, particularly in the domain of reproduction. Population carrier screening for a range of disorders is becoming possible using whole genome/exome sequencing. However, very little is known about the views of genetically disabled adults toward selective reproduction. METHODS: Forty-three in-depth qualitative interviews were carried out with adults living with different types of genetic condition, recruited through support groups and clinics. Interviews covered participants' experiences of their condition and their views toward genetic intervention in reproduction. Thematic analysis of the data using NVivo 11 was undertaken, and participants were assigned categories as either supporting, not-supporting, or having ambivalent views toward selective reproduction. RESULTS: The majority of participants (65%) expressed either disapproval of, or held ambivalent views toward, selective reproduction. Key reasons for non-support included regarding genetic impairment as part of personal identity and the prioritization of social and environmental barrier removal. Key reasons for support of selective reproduction included negative and externalizing attitudes toward genetic impairment and a belief in the importance of informed reproductive decision-making. CONCLUSION: 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.
Assuntos
Atitude , Comportamento Contraceptivo/psicologia , Triagem de Portadores Genéticos/ética , Aconselhamento Genético/psicologia , Doenças Genéticas Inatas/psicologia , Adolescente , Adulto , Feminino , Aconselhamento Genético/ética , Doenças Genéticas Inatas/prevenção & controle , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
BACKGROUND: Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder and a leading genetic cause of infant death worldwide. However, there is no routine screening program for SMA in the UK. Lack of treatments and the inability of screening tests to accurately predict disease severity are among the key reasons implementation of screening has faltered in the UK. With the recent release of the first therapy for SMA (Nusinersen), calls are being made for a reconsideration of this stance; however, very little is known about the views of the general public. METHODS: An online survey was administered to 232 individuals with no prior relationship with SMA to assess their attitudes toward a newborn screening program for it. Results are compared with previously gathered data on the views of SMA-affected families toward screening. RESULTS: Eighty-four percent of participants were in favor of newborn screening. Key reasons for support were a belief that it would lead to better healthcare and life expectancy for affected infants and facilitate informed decision-making for future pregnancies. Key reasons for nonsupport were a belief in the potential for significant negative impact on the family unit in terms of bonding and stress. CONCLUSIONS: Public acceptability is a key component in the evaluation of any potential screening program in the UK. This study demonstrates that newborn screening for SMA is viewed largely positively by people unfamiliar with the condition. The importance of early identification overrode all other social and ethical concerns about screening for the majority of participants.
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Conhecimentos, Atitudes e Prática em Saúde , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/genética , Adolescente , Adulto , Idoso , Família , Feminino , Testes Genéticos/estatística & dados numéricos , Humanos , Recém-Nascido , Internet , Masculino , Pessoa de Meia-Idade , Triagem Neonatal/métodos , Doenças Neuromusculares/genética , Medição de Risco/métodos , Inquéritos e Questionários , Reino Unido/epidemiologiaRESUMO
'Experiential knowledge' is increasingly recognised as an important influence on reproductive decision-making. 'Experiential knowledge of disability' in particular is a significant resource within prenatal testing/screening contexts, enabling prospective parents to imagine and appraise future lives affected by disability. However, the concept of 'experiential knowledge' has been widely critiqued for its idiosyncrasy, its impermanence and consequently its perceived inferiority to (medical) knowledge. This paper explores some of these key critiques of experiential knowledge through an analysis of its constitution and uses in the context of reproductive decision-making. Seventeen UK-resident women with Spinal Muscular Atrophy (SMA), or with SMA in their family, took part in two in-depth interviews: one in 2007-9 and the other in 2013-4. By comparing and contrasting these women's accounts at two time points, this paper demonstrates the stark contrast between 'lived experience' of SMA (the visceral everyday realities of life with the condition) and the various way(s) this experience was transformed into, and presented as, 'knowledge' through the processes of making, and accounting, for reproductive decisions. The analysis highlights that multiple, distinct and sometimes competing experiential frameworks are used to conceptualise SMA across time and context. However, rather than evidence of its fallibility, this finding highlights that 'knowledge' is an inappropriate vessel with which to capture and transfer 'experiential knowledge'. Rather, we need to consider how to value such insight in ways that harnesses its inherent strength without leaving it vulnerable to the epistemological critiques attracted by labelling it 'knowledge'.
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Tomada de Decisões , Aconselhamento Genético/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Atrofia Muscular Espinal/genética , Pais/psicologia , Adulto , Feminino , Humanos , Gravidez , Diagnóstico Pré-Natal/psicologia , Estudos ProspectivosRESUMO
Strategies of personal resilience enable successful adaptation in adversity. Among patients experiencing depression symptoms, we explored which personal resilience strategies they find most helpful and tested the hypothesis that use of these strategies improves depression recovery. We used interview and survey data from the Diagnosis, Management and Outcomes of Depression in Primary Care 2005 cohort of patients experiencing depression symptoms in Victoria, Australia. A total of 564 participants answered a computer-assisted telephone interview question at 12 months follow-up, about what they found most helpful for their depression, stress or worries. Depressive disorder and severity were measured at annual follow-up using the Composite International Diagnostic Interview and the Patient Health Questionnaire self-rating questionnaire. Using interview responses, we categorised participants as users or not of strategies of personal resilience, specifically, drawing primarily on expanding their own inner resources or pre-existing relationships: 316 (56%) were categorised as primarily users of personal resilience strategies. Of these, 193 (61%) reported expanding inner resources, 79 (25%) drawing on relationships and 44 (14%) reported both. There was no association between drawing on relationships and depression outcome. There was evidence supporting an association between expanding inner resources and depression outcome: 25 per cent of users having major depressive disorder 1 year later compared to 38 per cent of non-users (adjusted odds ratio: 0.59, confidence interval: 0.36-0.97). This is the first study to show improved outcome for depression for those who identify as most helpful the use of personal resilience strategies. The difference in outcome is important as expanding inner resources includes a range of low intensity, yet commonly available strategies.