ArticleJournal of genetic counseling2020
Social and cultural influences on genetic screening programme acceptability: A mixed-methods study of the views of adults, carriers, and family members living with thalassemia in the UK.
Article in Journal of genetic counseling, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 citations in OpenAlex.
- 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
- The effect of cognitive behavioral counseling on anxiety and worry level of women with intermediate risk during first trimester screening for down syndrome: a randomized controlled trial: a randomized controlled trial.BMC pregnancy and childbirth · 2023Trial
- Thalassaemia.Nature reviews. Disease primers · 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
- Acceptability of newborn screening for spinal muscular atrophy: views of the UK public, screened families, health professionals and the SMA community.European journal of human genetics : EJHG · 2026Article
- Public awareness, knowledge and attitudes toward thalassemia and its screening in five high-prevalence countries: a cross-sectional study based on an online survey.BMC public health · 2026Article
- Article
- Prospective parents' views on reproductive genetic carrier screening: "You know better, you do better".Journal of genetic counseling · 2025Article
- Anxiety and quality-of-life for parents of children with undiagnosed rare conditions: A multi-site quantitative survey study.Journal of genetic counseling · 2025Article
- 'I Have my Beliefs, but Then I Have my Reality': Reflections of Black and South Asian Parents Living in England on Screening and Genetic Diagnosis in Pregnancy.Prenatal diagnosis · 2025Article
- Factors Associated With Premarital Screening Intention Among Young Adults With Higher Education in Indonesia: A Cross Sectional Study.Journal of preventive medicine and public health = Yebang Uihakhoe chi · 2025Article
- Severity in the genomic age: the significance of lived experience to understandings of severity.European journal of human genetics : EJHG · 2025Article
- Stigma associated with genetic testing for rare diseases-causes and recommendations.Frontiers in genetics · 2024Review
- Carrier screening programs for rare diseases in developed countries and the case of Turkey: A systematic review.Intractable & rare diseases research · 2023Review
- Hypogonadism among patients with transfusion-dependent thalassemia: a cross-sectional study.Annals of medicine and surgery (2012) · 2023Article
- Societal implications of expanded universal carrier screening: a scoping review.European journal of human genetics : EJHG · 2023Article
- Genotypic spectrum of α-thalassemia and β-thalassemia in newborns of the Li minority in Hainan province, China.Frontiers in pediatrics · 2023Article
- 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'.Journal of genetic counseling · 2021Article
- Social and cultural influences on genetic screening programme acceptability: A mixed-methods study of the views of adults, carriers, and family members living with thalassemia in the UK.Journal of genetic counseling · 2020Article
- Letter to the editor. Gene editing and disabled people: a response to Iñigo de Miguel Beriain.Journal of community genetics · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
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.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.