ArticleHealth expectations : an international journal of public participation in health care and health policy2018
The role of experiential knowledge within attitudes towards genetic carrier screening: A comparison of people with and without experience of spinal muscular atrophy.
Article in Health expectations : an international journal of public participation in health care and health policy, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.Ontario health technology assessment series · 2023Pooled it
- Drawing lines: how the public defines "Serious" genetic conditions for reproductive testing.European journal of human genetics : EJHG · 2026Article
- Considering seriousness in preconception carrier screening: a framework to support policy deliberation.Journal of community genetics · 2026Review
- Scoping review and recommendations for development and delivery of education resources for reproductive genetic carrier screening.European journal of human genetics : EJHG · 2026Review
- "We've done our due diligence": Experiences of reproductive genetic carrier screening in people with experiential knowledge of a genetic condition.European journal of human genetics : EJHG · 2026Article
- Genomic Medicine and Individual Autonomy: Reflections on Knowledge Societies and Governmentality.International journal of environmental research and public health · 2026Article
- An exploration of the perspectives of Dutch adults experiencing a genetic condition on human germline gene editing.Journal of community genetics · 2025Article
- Development of an Online Scenario-Based Tool to Enable Research Participation and Public Engagement in Cystic Fibrosis Newborn Screening: Mixed Methods Study.Journal of participatory medicine · 2025Article
- Severity in the genomic age: the significance of lived experience to understandings of severity.European journal of human genetics : EJHG · 2025Article
- Unpacking the notion of "serious" genetic conditions: towards implementation in reproductive decision-making?European journal of human genetics : EJHG · 2025Review
- Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening.European journal of human genetics : EJHG · 2025Article
- Prenatal carrier screening for spinal muscular atrophy among pregnant Thai women.Frontiers in medicine · 2025Article
- International Perspectives of Extended Genetic Sequencing When Used as Part of Newborn Screening to Identify Cystic Fibrosis.International journal of neonatal screening · 2024Article
- Stigma associated with genetic testing for rare diseases-causes and recommendations.Frontiers in genetics · 2024Review
- Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy.Journal of neuromuscular diseases · 2024Article
- Insights into the Molecular Genetic of Hemophilia A and Hemophilia B: The Relevance of Genetic Testing in Routine Clinical Practice.Hamostaseologie · 2022Review
- Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy.Prenatal diagnosis · 2022Article
- Preconception expanded carrier screening: Impact of information presented by text or video on genetic knowledge and attitudes.Journal of genetic counseling · 2021Article
- "The Whole Game is Changing and You've Got Hope": Australian Perspectives on Treatment Decision Making in Spinal Muscular Atrophy.The patient · 2020Article
- Expanded universal carrier screening and its implementation within a publicly funded healthcare service.Journal of community genetics · 2020Review
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeAutosomal 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.
methodsAn 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.
participants337 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).
resultsThe 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.
conclusionThis 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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