ReviewJournal of community genetics2020
Patients' views on variants of uncertain significance across indications.
Review in Journal of community genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 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
55 citing papers in PubMed, 3 syntheses or guidelines pooled it, 91 citations in OpenAlex.
- ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.Clinical cancer research : an official journal of the American Association for Cancer Research · 2023Pooled it
- Receiving results of uncertain clinical relevance from population genetic screening: systematic review & meta-synthesis of qualitative research.European journal of human genetics : EJHG · 2022Pooled it
- 2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.Heart rhythm · 2021Guideline
- Investigating the Impact of Screen-Sharing Visual Aids during Genomic Results Disclosure via Telehealth in Diverse Families in the TeleKidSeq Pilot Study.Public health genomics · 2025Trial
- Assessing the Clinical Relevance ofCurrent oncology (Toronto, Ont.) · 2026Article
- Targeted reflex RNA sequencing for enhanced variant classification on exome and genome sequencing improves patient outcomes.NPJ genomic medicine · 2026Article
- Restraints on Personal Utility in Genomic Testing.The American journal of bioethics : AJOB · 2026Article
- Provider Perceptions of the Impact of Rapid Whole Genome Sequencing on Care and Management.Research square · 2026Article
- High-throughput biochemical phenotyping of SHP2 variants reveals the molecular basis of diseases and allosteric drug inhibition.bioRxiv : the preprint server for biology · 2026Article
- Public and parent perspectives on genomic sequencing in newborn screening: a scoping review.European journal of human genetics : EJHG · 2026Review
- A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases.Molecular genetics & genomic medicine · 2025Review
- Ambiguities faced by parents who received a genetic diagnosis for autistic offspring with intellectual disabilities.Journal of community genetics · 2025Article
- Reclassification of an uncertain STK11 germline variant as likely pathogenic: a family study.Familial cancer · 2025Article
- Reclassification of variants of uncertain significance in neonatal genetic diseases: implications from a clinician's perspective.Journal of human genetics · 2025Article
- Making Sense of Missense: Benchmarking MutScore for Variant Interpretation in Inherited Cardiac Diseases.Molecular diagnosis & therapy · 2025Article
- Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation.American journal of human genetics · 2025Article
- Interpretative phenomenological analysis and genetic counseling.Journal of genetic counseling · 2025Review
- Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice.Clinical genetics · 2025Article
- Evaluation of face validity and core concepts of a novel knowledge scale for inherited heart disease: A pilot study.Journal of genetic counseling · 2025Article
- Considerations for hereditary breast and ovarian cancer syndrome molecular diagnosis: experience from the clinical practice.Breast cancer research and treatment · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
As genomic sequencing expands into more areas of patient care, an increasing number of patients learn of the variants of uncertain significance (VUSs) that they carry. Understanding the potential psychosocial consequences of the disclosure of a VUS can help inform pre- and post-test counseling discussions. Medical uncertainty in general elicits a variety of responses from patients, particularly in the growing field of medical genetics and genomics. It is important to consider patients' responses to the ambiguous nature of VUSs across different indications and situational contexts. Genetic counselors and other providers ordering genetic testing should be prepared for the possibility of their patients' misinterpretation of such results. Pre-test counseling should include a discussion of the possibility of VUSs and what it would mean for the patient's care and its potential psychosocial impacts. When a VUS is found, post-test counseling should include additional education and a discussion of the variant's implications and medical management recommendations based on the results. These discussions may help temper subjective interpretations, unrealistic views, and decisional regret.
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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.