Abstract

Contents

• NIHR Health Technology Assessment programme
• Glossary
• List of abbreviations
• Executive summary
• 1. Background and definition of the decision problem
  • Description of health problem
  • Current service provision
  • Description of technologies under assessment
  • Care pathways
  • Definition of the decision problem
  • Overall aim and objectives of the assessment
• 2. Assessment design and results: test performance
  • Methods for reviewing test performance
  • Results of test performance
  • Summary
• 3. Assessment design and results: cost-effectiveness
  • Review of cost-effectiveness studies
  • Methods for economic analysis
  • Results of economic analysis
  • Summary
• 4. Assessment of factors relevant to the NHS and other parties
  • Factors relevant to the NHS
  • Factors relevant to other parties
• 5. Discussion
  • Discussion of test performance results
  • Discussion of cost-effectiveness results
• 6. Conclusions
  • Implications for service provision
  • Suggested research priorities
• Acknowledgements
• References
• Appendix 1 Age-specific low-density lipoprotein cholesterol cut-offs for females
• Appendix 2 Age-specific low-density lipoprotein cholesterol cut-offs for males
• Appendix 3 Search strategy
• Appendix 4 Data extraction form
• Appendix 5 Modified QUADAS checklist
• Appendix 6 List of included studies
• Appendix 7 List of excluded studies
• Appendix 8 Characteristics of the included studies
• Appendix 9 Quality assessment results for the individual studies (full text)
• Appendix 10 Individual study results for Elucigene FH20/LIPOchip
• Appendix 11 MOLU classification of genetic tests
• Appendix 12 Age-specific analysis for index cases only
• Appendix 13 Age-specific analysis for index cases and relatives
• Appendix 14 One-way sensitivity analyses carried out on the base-case model
• Appendix 15 Cost-effectiveness acceptability curves for each age subgroup
• Appendix 16 Parameters for estimation of the distributions for the probabilistic model (base case)
• Appendix 17 Cost-effectiveness acceptability curves for alternative mutation test-positive rates on comprehensive genetic analysis
• Appendix 18 Proportion identified by cascade testing using comprehensive genetic analysis (targeted sequencing) or age- and gender- specific low-density lipoprotein cholesterol cut-offs
• Appendix 19 Protocol
• Health Technology Assessment programme

Suggested citation:

Sharma P, Boyers D, Boachie C, Stewart F, Miedzybrodzka Z, Simpson W, et al. Elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia: a systematic review and economic evaluation. Health Technol Assess 2012;16(17).

Declared competing interests of authors: During the past 5 years William Simpson has received unrestricted educational grants from Schering Plough, honoraria for lectures and advisory boards from AstraZeneca, Menarini, MSD, Randox and Schering Plough, and sponsorship for attendance at scientific meetings from Genzyme and Siemens Diagnostics. During the past 5 years Zosia Miedzybrodzka has received sponsorship for attendance at an educational seminar from AstraZeneca and has attended Scottish Lipid Forum educational meetings sponsored by Schering Plough and MSD. The other authors have no competing interests.

The research reported in this issue of the journal was commissioned and funded by the HTA programme on behalf of NICE as project number 10/70/01. The protocol was agreed in December 2010. The assessment report began editorial review in April 2011 and was accepted for publication in November 2011.The authors have been wholly responsible for all data collection, analysis and interpretation, and for writing up their work. The HTA editors and publisher have tried to ensure the accuracy of the authors' report and would like to thank the referees for their constructive comments on the draft document. However, they do not accept liability for damages or losses arising from material published in this report.

The views expressed in this publication are those of the authors and not necessarily those of the HTA programme or the Department of Health.