SynthesisEuropean journal of human genetics : EJHG2022
Receiving results of uncertain clinical relevance from population genetic screening: systematic review & meta-synthesis of qualitative research.
Synthesis in European journal of human genetics : EJHG, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 3 of them syntheses 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.
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.
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Who cites it
22 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Psychosocial implications, acceptability and ethics of screening for paediatric type 1 diabetes: a systematic review and mixed methods evidence synthesis.Diabetologia · 2026Pooled it
- Psychosocial issues of neonatal screening in the context of its major expansion: a scoping review.Frontiers in psychology · 2025Pooled it
- Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID.Pediatrics · 2024Guideline
- Young adults' understanding of, and reaction to, those with uncertain genetic results.Journal of community genetics · 2026Article
- Parental and public views on genomic newborn screening: a systematic review.European journal of human genetics : EJHG · 2026Review
- "Let it be as it is": between shock and acceptance - emotional, identity, and cognitive responses to the diagnosis of neurofibromatosis type1.Orphanet journal of rare diseases · 2026Article
- Exploring the impact on intrafamilial support systems when newborn screening programmes contact parents with an initial screen positive result.European journal of human genetics : EJHG · 2026Review
- The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy.Journal of inherited metabolic disease · 2026Article
- Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study.European journal of human genetics : EJHG · 2026Article
- Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation.American journal of human genetics · 2025Article
- Understanding the psychological impact of identifying carrier status on young adults: A qualitative study exploring peer reactions.Journal of genetic counseling · 2025Article
- Facilitators and Barriers to Increasing Equity in Cystic Fibrosis Newborn Screening Algorithms.Pediatric pulmonology · 2025Article
- Evaluating CRMS/CFSPID phenotypes and outcomes: A retrospective study from a large UK cystic fibrosis centre.Heliyon · 2024Article
- What is health and what do we mean when we say an intervention improves health?European journal of human genetics : EJHG · 2024Article
- Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions.European journal of human genetics : EJHG · 2024Article
- Parents' attitudes towards research involving genome sequencing of their healthy children: a qualitative study.European journal of human genetics : EJHG · 2024Article
- The Psychological Impact on Parents of Children who Receive an Inconclusive Diagnosis for Cystic Fibrosis following Newborn Screening: A Systematic Mini-Review.Children (Basel, Switzerland) · 2024Review
- Developing a General Population Screening Programme for Paediatric Type 1 Diabetes: Evidence from a Qualitative Study of the Perspectives and Attitudes of Parents.Pediatric diabetes · 2024Article
- Comparison between Gibson-Cooke and Macroduct Methods in the Cystic Fibrosis Neonatal Screening Program and in Subjects Who Are Cystic Fibrosis Screen-Positive with an Inconclusive Diagnosis.International journal of neonatal screening · 2023Article
- A Multicentre Italian Study on the Psychological Impact of an Inconclusive Cystic Fibrosis Diagnosis after Positive Neonatal Screening.Children (Basel, Switzerland) · 2023Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic screening can be hugely beneficial, yet its expansion poses clinical and ethical challenges due to results of uncertain clinical relevance (such as 'cystic fibrosis screen positive, inconclusive diagnosis'/CFSPID). This review systematically identifies, appraises, and synthesises the qualitative research on experiences of receiving results of uncertain clinical relevance from population genetic screening. Eight databases were systematically searched for original qualitative research using the SPIDER framework, and checked against inclusion criteria by the research team and an independent researcher. Nine papers were included (from USA, Canada, UK, New Zealand). PRISMA, ENTREQ, and EMERGE guidance were used to report. Quality was appraised using criteria for qualitative research. All papers focused on parental responses to uncertain results from newborn screening. Data were synthesised using meta-ethnography and first- and second-order constructs. Findings suggest that results of uncertain clinical relevance are often experienced in the same way as a 'full-blown' diagnosis. This has significant emotional and behavioural impact, for example adoption of lifestyle-altering disease-focused behaviours. Analysis suggests this may be due to the results not fitting a common medical model, leading recipients to interpret the significance of the result maladaptively. Findings suggest scope for professionals to negotiate and reframe uncertain screening results. Clearer initial communication is needed to reassure recipients there is no immediate severe health risk from these types of results. Public understanding of an appropriate medical model, that accounts for uncertain genetic screening results in a non-threatening way, may be key to maximising the benefits of genomic medicine and minimising potential psychological harm.
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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.