Trial reportEuropean journal of human genetics : EJHG2019
Perceptions of genetic variant reclassification in patients with inherited cardiac disease.
Trial report in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled 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
- Gene-specific reclassification patterns of variants in hypertrophic cardiomyopathy.European journal of human genetics : EJHG · 2026Article
- Genetics in Hypertrophic Cardiomyopathy: An Evolving Clinical Landscape.Cardiac failure review · 2026Review
- Appropriate time interval to update ambiguous genetic diagnosis in inherited arrhythmogenic syndromes.iScience · 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
- Canadian College of Medical Geneticists: clinical practice advisory document - responsibility to recontact for reinterpretation of clinical genetic testing.Journal of medical genetics · 2024Article
- Article
- Actionable Variants of Unknown Significance in Inherited Arrhythmogenic Syndromes: A Further Step Forward in Genetic Diagnosis.Biomedicines · 2024Article
- The Need to Standardize the Reanalysis of Genomic Sequencing Results: Findings from Interviews with Underserved Families in Genomic Research.Journal of bioethical inquiry · 2024Article
- Variant reclassification and recontact research: A scoping review.Genetics in medicine open · 2024Article
- The Role of Genetics in the Management of Heart Failure Patients.International journal of molecular sciences · 2023Review
- Perceived self-efficacy and empowerment in patients at increased risk of sudden cardiac arrest.Frontiers in cardiovascular medicine · 2023Article
- The challenge of managing the evolution of genomics data over time: a conceptual model-based approach.BMC bioinformatics · 2022Article
- Should variants of unknown significance (VUS) be disclosed to patients in cardiogenetics or not; only in case of high suspicion of pathogenicity?European journal of human genetics : EJHG · 2022Article
- It Is Not Carved in Stone-The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies.Journal of cardiovascular development and disease · 2022Article
- Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- 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.Journal of arrhythmia · 2021Article
- Changes in genetic variant results over time in pediatric cardiomyopathy and electrophysiology.Journal of genetic counseling · 2021Article
- Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.Clinical genetics · 2020Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Interpretation of sequence variants is an ongoing challenge and new approaches aim to increase stringency. The reclassification of variants has the potential to alter medical management and elicit psychosocial consequences for patients. The perspective of patients with an inherited cardiac disease and a clinically significant variant reclassification was explored through semi-structured phone interviews. Participants were recruited from two specialized multidisciplinary centers in Canada and Australia. Qualitative analysis was performed through a thematic analysis approach. Fifteen participants were interviewed, including 9 (60%) with an inherited cardiomyopathy and 6 (40%) with an inherited arrhythmia syndrome. Six (40%) patients had a classification upgrade, while 9 (60%) had a downgrade. Four major themes emerged: (1) reactions towards the reclassified variant; (2) impact on decision-making; (3) perception of the reclassification process; and (4) improvement of the reclassification process. Many patients adjusted to the reclassification, however some misunderstood the implications, impacting their responses and decision-making. In conclusion, careful discussion with patients about uncertainty and the potential for reclassification are crucial to ensure a deeper understanding of the outcome of genetic testing and impact on families.
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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.