ArticleJournal of medical genetics2002
Genetic testing and genetic counselling in hypertrophic cardiomyopathy: the French experience.
Article in Journal of medical genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 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.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 77 citations in OpenAlex.
- Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature.Frontiers in genetics · 2019Pooled it
- Prediction of Genotype Positivity in Patients With Hypertrophic Cardiomyopathy Using Machine Learning.Circulation. Genomic and precision medicine · 2021Trial
- Comparing test-specific distress of susceptibility versus deterministic genetic testing for Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2008Trial
- Patient experiences in receiving telegenetics care for inherited cardiovascular diseases.Journal of community genetics · 2024Article
- Genetic Testing and Counselling in Hypertrophic Cardiomyopathy: Frequently Asked Questions.Journal of clinical medicine · 2023Article
- Perceived self-efficacy and empowerment in patients at increased risk of sudden cardiac arrest.Frontiers in cardiovascular medicine · 2023Article
- A Person-Centered Approach to Cardiovascular Genetic Testing.Cold Spring Harbor perspectives in medicine · 2020Review
- Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.Journal of clinical medicine · 2020Article
- Genetics of paediatric cardiomyopathies.Current opinion in pediatrics · 2017Review
- Heritable pulmonary hypertension: from bench to bedside.European respiratory review : an official journal of the European Respiratory Society · 2017Review
- Mutation Analysis of Three Exons of Myosin-Binding Protein C3 in Patients with Hypertrophic Cardiomyopathy.The journal of Tehran Heart Center · 2016Article
- Health Status and Psychological Distress in Patients with Non-compaction Cardiomyopathy: The Role of Burden Related to Symptoms and Genetic Vulnerability.International journal of behavioral medicine · 2015Article
- Importance of genetic evaluation and testing in pediatric cardiomyopathy.World journal of cardiology · 2014Review
- Motivation to pursue genetic testing in individuals with a personal or family history of cardiac events or sudden cardiac death.Journal of genetic counseling · 2014Article
- Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families.Journal of genetic counseling · 2013Article
- Quality in genetic counselling for presymptomatic testing--clinical guidelines for practice across the range of genetic conditions.European journal of human genetics : EJHG · 2013Article
- Impediments to DNA testing and cascade screening for hypertrophic cardiomyopathy and Long QT syndrome: a qualitative study of patient experiences.Journal of genetic counseling · 2010Article
- Hypertrophic cardiomyopathy.Heart failure clinics · 2010Review
- The ubiquitin-proteasome system and nonsense-mediated mRNA decay in hypertrophic cardiomyopathy.Cardiovascular research · 2010Review
- Identifying modifier genes of monogenic disease: strategies and difficulties.Human genetics · 2008Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsA major breakthrough in the molecular genetics of hypertrophic cardiomyopathy (HCM) has made genetic testing now available in clinical practice, raising new questions about its implications, potential benefits, and the organisation of the procedure. The aim of this work was (1) to discuss the different questions related to genetic testing in HCM, and propose guidelines for the different situations, (2) to report our preliminary experience with a specific procedure. METHODS AND
resultsThe main questions asked by patients and relatives concern presymptomatic diagnosis and prenatal counselling/diagnosis, while clinicians sometimes discuss diagnostic and prognostic testing. To take into account the complex medical and psychological implications of this new approach, we developed a specific, multidisciplinary, and multiple step procedure, including a cardiologist, a geneticist, and a psychologist. Seventy subjects were examined, including (1) 29 adults for presymptomatic diagnosis (of whom 10 left the procedure after the first visit and 19 continued, among whom six had a mutation and two experienced negative psychological impact, observed during follow up), (2) nine couples of parents for presymptomatic diagnosis in their children (the procedure was stopped after the first visit in eight and continued in one), (3) 22 couples for prenatal counselling (no prenatal genetic testing was asked for after the first visit), and (4) 10 subjects for diagnostic testing. We decided to perform no prognostic testing.
conclusionOur preliminary experience confirms the complexity of the situation and suggests the necessity for a specific procedure to ensure good practice in genetic testing of HCM.
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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.