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A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy
  1. Jodie Ingles1,2,
  2. Julie McGaughran3,4,
  3. Paul A Scuffham5,
  4. John Atherton4,6,
  5. Christopher Semsarian1,2,7
  1. 1Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia
  2. 2Central Clinical School, University of Sydney, Sydney, Australia
  3. 3Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia
  4. 4Department of Medicine, University of Queensland, Brisbane, Australia
  5. 5Centre for Applied Health Economics, School of Medicine, Griffith University, Brisbane, Australia
  6. 6Department of Cardiology, Royal Brisbane and Women's Hospital, Brisbane, Australia
  7. 7Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia
  1. Correspondence to Professor Christopher Semsarian, Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Locked Bag 6, Newtown NSW 2042 Australia; c.semsarian{at}centenary.org.au

Abstract

Background Traditional management of families with hypertrophic cardiomyopathy (HCM) involves periodic lifetime clinical screening of family members, an approach that does not identify all gene carriers owing to incomplete penetrance and significant clinical heterogeneity. Limitations in availability and cost have meant genetic testing is not part of routine clinical management for many HCM families.

Objective To determine the cost-effectiveness of the addition of genetic testing to HCM family management, compared with clinical screening alone.

Methods A probabilistic Markov decision model was used to determine cost per quality-adjusted life-year and cost for each life-year gained when genetic testing is included in the management of Australian families with HCM, compared with the conventional approach of periodic clinical screening alone.

Results The incremental cost-effectiveness ratio (ICER) was $A785 (£510 or €587) per quality-adjusted life-year gained, and $A12 720 (£8261 or €9509) per additional life-year gained making genetic testing a very cost-effective strategy. Sensitivity analyses showed that the cost of proband genetic testing was an important variable. As the cost of proband genetic testing decreased, the ICER decreased and was cost saving when the cost fell below $A248 (£161 or €185). In addition, the mutation identification rate was also important in reducing the overall ICER, although even at the upper limits, the ICER still fell well within accepted willingness to pay bounds.

Conclusions The addition of genetic testing to the management of HCM families is cost-effective in comparison with the conventional approach of regular clinical screening. This has important implications for the evaluation of families with HCM, and suggests that all should have access to specialised cardiac genetic clinics that can offer genetic testing.

  • Hypertrophic cardiomyopathy
  • cost-effectiveness analysis
  • genetic testing
  • cardiomyopathy hypertrophic
  • sudden cardiac death
  • genetics

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Footnotes

  • Funding This study was supported, in part, by an NHMRC project grant.

  • Competing interests None.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement Data available from the authors on request.

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