ArticleJournal of genetic counseling2016
Parents' Perspectives on Variants of Uncertain Significance from Chromosome Microarray Analysis.
Article in Journal of genetic counseling, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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.
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Who cites it
29 citing papers in PubMed, 46 citations in OpenAlex.
- "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
- Attitudes toward uncertain results from prenatal exome sequencing: a national survey among healthcare professionals working in the prenatal setting.Frontiers in medicine · 2024Article
- Analysis of potential copy-number variations and genes associated with first-trimester missed abortion.Heliyon · 2023Article
- Views of Israeli healthcare professionals regarding communication of genetic variants of uncertain significance to patients.Journal of genetic counseling · 2022Article
- Cancer patients' understandings of genetic variants of uncertain significance in clinical care.Journal of community genetics · 2022Article
- Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies.Prenatal diagnosis · 2022Article
- Predictors of empowerment in parents of children with autism and related neurodevelopmental disorders who are undergoing genetic testing.Molecular genetics & genomic medicine · 2021Article
- Assessing parental understanding of variant reclassification in pediatric neurology and developmental pediatrics clinics.Journal of community genetics · 2021Article
- Hope versus reality: Parent expectations of genomic testing.Patient education and counseling · 2021Article
- Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways-A Case Series.Journal of personalized medicine · 2021Article
- Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross-sectional study with healthcare professionals.Prenatal diagnosis · 2021Article
- Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions.Journal of genetic counseling · 2021Article
- Genetic Testing in Neurodevelopmental Disorders.Frontiers in pediatrics · 2021Review
- Adult patients with undiagnosed conditions and their responses to unresolved uncertainty from exome sequencing.Journal of genetic counseling · 2020Article
- Patients' views on variants of uncertain significance across indications.Journal of community genetics · 2020Review
- Challenges to informed consent for exome sequencing: A best-worst scaling experiment.Journal of genetic counseling · 2019Article
- Influence of validating the parental origin on the clinical interpretation of fetal copy number variations in 141 core family cases.Molecular genetics & genomic medicine · 2019Article
- Clinical validity assessment of genes for inclusion in multi-gene panel testing: A systematic approach.Molecular genetics & genomic medicine · 2019Article
- Diagnostic and Therapeutic Misconception: Parental Expectations and Perspectives Regarding Genetic Testing for Developmental Disorders.Journal of autism and developmental disorders · 2019Article
- Article
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
No grant is acknowledged in the PubMed record.
Abstract
Chromosomal microarray analysis (CMA) for unexplained anomalies and developmental delay has improved diagnosis rates, but results classified as variants of uncertain significance (VUS) may challenge both clinicians and families. We explored the impact of such results on families, including parental knowledge, understanding and interpretation. Semi-structured telephone interviews were conducted with parents (N = 14) who received genetic counseling for a VUS in their child. Transcripts were analyzed through an iterative coding process. Participants demonstrated a range of recall and personal interpretation regarding whether test results provided a causal explanation for their children's health issues. Participants maintained contradictory interpretations, describing results as answers while maintaining that little clarification of their child's condition had been provided. Reported benefits included obtaining medical services and personal validation. Parents described adaptation/coping processes similar to those occurring after positive test results. Recall of terminology, including "VUS" and precise CMA abnormalities, was poor. However, most demonstrated conceptual understanding of scientific uncertainty. All participants expressed intentions to return for recommended genetics follow-up but had misconceptions about how this would occur. These results provide insight into the patient-and-family experience when receiving uncertain genomic findings, emphasize the importance of exploring uncertainty during the communication process, and highlight areas for potential attention or improvement in the clinical encounter.
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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.