ArticleEuropean journal of human genetics : EJHG2017
Attitudes, knowledge and consequences of uncertain genetic findings in hypertrophic cardiomyopathy.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 2 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
20 citing papers in PubMed, 2 syntheses or guidelines 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
- Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- Evaluating a communication aid for return of genetic results in families with hypertrophic cardiomyopathy: A randomized controlled trial.Journal of genetic counseling · 2023Trial
- Perceptions of genetic variant reclassification in patients with inherited cardiac disease.European journal of human genetics : EJHG · 2019Trial
- Spectrum of Copy Number Variants in Fetal Congenital Heart Disease and Their Clinical Implications: A Retrospective Study from a Tertiary Care Center.Diagnostics (Basel, Switzerland) · 2026Article
- Phenotypic spectrum and molecular characteristics of variants of uncertain significance in copy number variations associated with fetal cardiac malformations: a case series of 9 patients.Frontiers in pediatrics · 2026Article
- Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence-based practice resource of the National Society of Genetic Counselors.Journal of genetic counseling · 2025Review
- Evaluation of face validity and core concepts of a novel knowledge scale for inherited heart disease: A pilot study.Journal of genetic counseling · 2025Article
- Implementation of genetic testing for heritable cardiac conditions: A scoping review.Genetics in medicine open · 2025Review
- The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye.Anatolian journal of cardiology · 2023Article
- Interventions to support patients with sharing genetic test results with at-risk relatives: a synthesis without meta-analysis (SWiM).European journal of human genetics : EJHG · 2023Review
- Perceived self-efficacy and empowerment in patients at increased risk of sudden cardiac arrest.Frontiers in cardiovascular medicine · 2023Article
- 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
- 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
- A Person-Centered Approach to Cardiovascular Genetic Testing.Cold Spring Harbor perspectives in medicine · 2020Review
- Patients' views on variants of uncertain significance across indications.Journal of community genetics · 2020Review
- Psychological adaptation to molecular autopsy findings following sudden cardiac death in the young.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Article
- Detection of copy number variants using chromosomal microarray analysis for the prenatal diagnosis of congenital heart defects with normal karyotype.Journal of clinical laboratory analysis · 2019Article
- Examining the Psychosocial Impact of Genetic Testing for Cardiomyopathies.Journal of genetic counseling · 2018Article
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.
Funding
No grant is acknowledged in the PubMed record.
Abstract
With the surge of next-generation sequencing (NGS) technologies making almost all genetic tests more affordable and available, cardiac genetic testing now routinely encompasses a large number of genes within a panel setting. The additional sensitivity of this practice is limited and has the potential to inflict a spectrum of uncertainty. We sought to explore attitudes, preferences, recall and psychological consequences of informative and uninformative genetic results amongst probands diagnosed with hypertrophic cardiomyopathy (HCM). We conducted semi-structured interviews and analysed the qualitative data using a framework analysis process. In general, we found probands were more concerned with their clinical diagnosis than gene result and in some, recall and understanding of genetic diagnosis was poor. Several participants expected genetic testing would alleviate uncertainty, often holding an altruistic view of participation in testing, removing their sense of self and failing to appreciate fully the familial implications. With the key utility of HCM genetic testing and counselling being for greater risk prediction for at-risk relatives, effective communication within the family is critical. While communication appeared adequate, further questioning found it was often vague, failing to translate into meaningful action by relatives. Based on these findings, a framework of key outcomes to assist multidisciplinary teams in genetic counselling of probands receiving an HCM gene result was developed.
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.