ArticlePloS one2016
Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative Interview Study.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Return of individual research results from genomic research: A systematic review of stakeholder perspectives.PloS one · 2021Pooled it
- A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.American journal of human genetics · 2020Trial
- Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectives.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Rare and resilient: Longer-term experiences of families after genetic evaluation in the neonatal intensive care unit.Genetics in medicine open · 2026Article
- Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants.Pediatrics · 2024Article
- A content analysis of parents' reflections on pathogenic and uncertain pediatric oncology germline sequencing results.Familial cancer · 2024Article
- Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants.medRxiv : the preprint server for health sciences · 2024Article
- Translating Precision Health for Pediatrics: A Scoping Review.Children (Basel, Switzerland) · 2023Article
- "Your Life Turns Upside Down": A Qualitative Study of the Experiences of Parents with Children Diagnosed with Phelan-McDermid Syndrome.Children (Basel, Switzerland) · 2022Article
- Toward the diagnosis of rare childhood genetic diseases: what do parents value most?European journal of human genetics : EJHG · 2021Article
- Using the diffusion of innovations model to guide participant engagement in the genomics era.Journal of genetic counseling · 2019Article
- Communication Needs for Individuals With Rare Diseases Within and Around the Healthcare System of Northern Ireland.Frontiers in public health · 2019Article
- Operationalizing the Reciprocal Engagement Model of Genetic Counseling Practice: a Framework for the Scalable Delivery of Genomic Counseling and Testing.Journal of genetic counseling · 2018Article
- Impact of a Patient-Facing Enhanced Genomic Results Report to Improve Understanding, Engagement, and Communication.Journal of genetic counseling · 2018Article
- Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results.Journal of genetic counseling · 2018Article
- Returning Individual Genetic Research Results to Research Participants: Uptake and Outcomes Among Patients With Breast Cancer.JCO precision oncology · 2018Article
- Article
- Psychological Impact of Learning CDKN2A Variant Status as a Genetic Research Result.Public health genomics · 2018Article
- A RaDiCAL gene hunt.Journal of Taibah University Medical Sciences · 2017Review
- Communication challenges for nongeneticist physicians relaying clinical genomic results.Personalized medicine · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
purposeMuch information on parental perspectives on the return of individual research results (IRR) in pediatric genomic research is based on hypothetical rather than actual IRR. Our aim was to understand how the expected utility to parents who received IRR on their child from a genetic research study compared to the actual utility of the IRR received.
methodsWe conducted individual telephone interviews with parents who received IRR on their child through participation in the Manton Center for Orphan Disease Research Gene Discovery Core (GDC) at Boston Children's Hospital (BCH).
resultsFive themes emerged around the utility that parents expected and actually received from IRR: predictability, management, family planning, finding answers, and helping science and/or families. Parents expressing negative or mixed emotions after IRR return were those who did not receive the utility they expected from the IRR. Conversely, parents who expressed positive emotions were those who received as much or greater utility than expected.
conclusionsDiscrepancies between expected and actual utility of IRR affect the experiences of parents and families enrolled in genetic research studies. An informed consent process that fosters realistic expectations between researchers and participants may help to minimize any negative impact on parents and families.
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.