ReviewThe patient2022
Perceived Utility of Genomic Sequencing: Qualitative Analysis and Synthesis of a Conceptual Model to Inform Patient-Centered Instrument Development.
Review in The patient, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 3 of them syntheses 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
32 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- The Psychosocial Impact of Receiving Whole Genome and Whole Exome Sequencing Results in Adults: A Systematic Review.Journal of genetic counseling · 2026Pooled it
- Approaches to Incorporation of Preferences into Health Economic Models of Genomic Medicine: A Critical Interpretive Synthesis and Conceptual Framework.Applied health economics and health policy · 2025Pooled it
- Demographic Characteristics Associated With Perceptions of Personal Utility in Genetic and Genomic Testing: A Systematic Review.JAMA network open · 2023Pooled it
- Parental experience of whole genome sequencing for children with sensorineural hearing loss.International journal of qualitative studies on health and well-being · 2026Article
- How parents and community care professionals use a genetic diagnosis to inform care: expanding the concept of utility.Journal of community genetics · 2026Article
- Article
- Challenges associated with disclosing results from whole genome sequencing to diagnose paediatric rare diseases: analysis of parent-clinician interactions.Journal of medical genetics · 2026Article
- Determining the value of genomics in healthcare.Nature medicine · 2025Review
- Distributional Cost-Effectiveness Analysis in Genomic Medicine: Considerations for Addressing Health Equity.Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research · 2025Article
- Parents' perceptions of the utility of genetic testing in the NICU.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Beyond the Diagnosis: Valuing Genome-Wide Sequencing for Rare Disease Diagnosis Using Contingent Valuation.Applied health economics and health policy · 2025Article
- How does personal utility depend on clinical setting? Evidence from 3 cohorts.Genetics in medicine open · 2025Article
- Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for adult screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Written communication of whole genome sequencing results in the NHS Genomic Medicine Service: a multi-centre service evaluation.European journal of human genetics : EJHG · 2024Article
- Utility of Genome Sequencing After Nondiagnostic Exome Sequencing in Unexplained Pediatric Epilepsy.medRxiv : the preprint server for health sciences · 2024Article
- Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for pediatric diagnostic testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population.HGG advances · 2024Article
- Measuring health-related quality of life in children with suspected genetic conditions: validation of the PedsQL proxy-report versions.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2024Article
- Genetic Testing of Movements Disorders: A Review of Clinical Utility.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024Review
- The Parent PrU: A measure to assess personal utility of pediatric genomic results.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors.
Funding
Abstract
BACKGROUND AND
objectivesSuccessful clinical integration of genomic sequencing (GS) requires evidence of its utility. While GS potentially has benefits (utilities) or harms (disutilities) across multiple domains of life for both patients and their families, there is as yet no empirically informed conceptual model of these effects. Our objective was to develop an empirically informed conceptual model of perceived utility of GS that captures utilities and disutilities for patients and their families across diverse backgrounds.
methodsWe took a patient-centered approach, in which we began with a review of existing literature followed by collection of primary interview data. We conducted semi-structured interviews to explore types of utility in a clinically and sociopolitically diverse sample of 60 adults from seven Clinical Sequencing Evidence-Generating Research (CSER) consortium projects. Interviewees had either personally received, or were parents of a child who had received, GS results. Qualitative data were analyzed using thematic analysis. Findings from interviews were integrated with existing literature on clinical and personal utility to form the basis of an initial conceptual model that was refined based on expert review and feedback.
resultsFive key utility types that have been previously identified in qualitative literature held up as primary domains of utility and disutility in our diverse sample. Interview data were used to specify and organize subdomains of an initial conceptual model. After expert refinement, the five primary domains included in the final model are clinical, emotional, behavioral, cognitive, and social, and several subdomains are specified within each.
conclusionWe present an empirically informed conceptual model of perceived utility of GS. This model can be used to guide development of instruments for patient-centered outcome measurement that capture the range of relevant utilities and disutilities and inform clinical implementation of GS.
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.