ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 3 of them syntheses that pooled it.
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Who cites it
33 citing papers in PubMed, 3 syntheses or guidelines pooled it, 60 citations in OpenAlex.
- Health Economic Research Assessing the Value of Early Detection of Cardiovascular Disease: A Systematic Review.PharmacoEconomics · 2023Pooled it
- A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 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
- Family screening for genetic cardiomyopathies in ECG-positive phenotype-negative adolescents: a joint clinical and genetic approach.European journal of pediatrics · 2026Article
- Evaluation of genetic-molecular causes of out-of-hospital cardiac arrest - from patients to families: the GenetiCA study.Resuscitation plus · 2026Article
- Dystrophin-Deficient Cardiomyopathy Due to a Novel Hemizygous DMD Indel Variant.JACC. Case reports · 2026Article
- Developing therapeutics for rare cardiovascular diseases.American heart journal · 2026Review
- Clinical care of family members of patients with dilated cardiomyopathy.European heart journal · 2025Article
- High societal costs and reduced health-related quality of life in inflammatory and systemic immune disease-associated dilated cardiomyopathies.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2025Article
- Filamin C Cardiomyopathy With Myocarditis in Childhood.CJC pediatric and congenital heart disease · 2025Article
- Contemporary Insights into LMNA Cardiomyopathy.Current cardiology reports · 2025Review
- Dilated Cardiomyopathy: A Genetic Journey from Past to Future.International journal of molecular sciences · 2024Review
- Etiologies and predictors of mortality in an all-comer population of patients with non-ischemic heart failure.Clinical research in cardiology : official journal of the German Cardiac Society · 2024Article
- Article
- Advancing precision medicine through the integration of clinical cardiovascular genetics - An Asian perspective.Genetics in medicine open · 2024Article
- QALYs and rare diseases: exploring the responsiveness of SF-6D, EQ-5D-5L and AQoL-8D following genomic testing for childhood and adult-onset rare genetic conditions in Australia.Health and quality of life outcomes · 2023Article
- Article
- A systematic literature review of economic evaluations and cost-of-illness studies of inherited cardiomyopathies.Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2023Review
- Article
- The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic.Genome medicine · 2022Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo assess the relative cost-effectiveness of cascade genetic testing in asymptomatic relatives of patients with dilated cardiomyopathy (DCM) compared with periodical clinical surveillance.
methodsA decision-analytic model, combining a decision tree and a Markov model, was used to determine the lifetime costs and quality-adjusted life years (QALYs) for the two strategies. Deterministic and probabilistic sensitivity analyses were undertaken to assess the robustness of findings and to explore decision uncertainty.
resultsThe incremental cost per additional QALY of cascade genetic testing prior to periodical clinical surveillance of first-degree relatives compared with periodical clinical surveillance alone was estimated at approximately AUD $6100. At established thresholds of cost-effectiveness, there is a 90% probability that cascade genetic testing is cost-effective. Extensive sensitivity analyses, including the addition of second-degree relatives, did not alter the conclusions drawn from the main analysis.
conclusionUsing cascade genetic testing to guide clinical surveillance of asymptomatic relatives of patients with DCM is very likely to be cost-effective. As the DCM pathogenic variant detection rate rises and new evidence for personalized treatment of at-risk individuals becomes available, the cost-effectiveness of cascade testing will further increase.
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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.