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Pharmacoeconomic Evaluations of Pharmacogenetic and Genomic Screening Programmes

A Systematic Review on Content and Adherence to Guidelines

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Abstract

The fields of pharmacogenetics and pharmacogenomics have become important practical tools to progress goals in medical and pharmaceutical research and development. As more screening tests are being developed, with some already used in clinical practice, consideration of cost-effectiveness implications is important. A systematic review was performed on the content of and adherence to pharmacoeconomic guidelines of recent pharmacoeconomic analyses performed in the field of pharmacogenetics and pharmacogenomics.

Economic analyses of screening strategies for genetic variations, which were evidence-based and assumed to be associated with drug efficacy or safety, were included in the review. The 20 papers included cover a variety of healthcare issues, including screening tests on several cytochrome P450 (CYP) enzyme genes, thiopurine S-methyltransferase (TMPT) and angiotensin-converting enzyme (ACE) insertion deletion (ACE I/D) polymorphisms.

Most economic analyses reported that genetic screening was cost effective and often even clearly dominated existing non-screening strategies. However, we found a lack of standardization regarding aspects such as the perspective of the analysis, factors included in the sensitivity analysis and the applied discount rates. In particular, an important limitation of several studies related to the failure to provide a sufficient evidence-based rationale for an association between genotype and phenotype.

Future economic analyses should be conducted utilizing correct methods, with adherence to guidelines and including extensive sensitivity analyses. Most importantly, genetic screening strategies should be based on good evidence-based rationales. For these goals, we provide a list of recommendations for good pharmacoeconomic practice deemed useful in the fields of pharmacogenetics and pharmacogenomics, regardless of country and origin of the economic analysis.

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Acknowledgements

This work was supported by the applied GENomic stratEgies for Treatment and Prevention of Cardiovascular death in Uraemia and End stage REnal disease (GENECURE) project (www.genecure.eu), a Specific Targeted Research or Innovation Project, funded by the European Commission under the Sixth Framework Programme as FP6−037696. GENECURE is led by Professor Dr G.J. Navis, University Medical Center Groningen in Groningen, the Netherlands; its goal is to elucidate the genomic basis of cardiovascular complications in renal disease. GENECURE is hosted by the Renal Genome Network (ReGeNet) project (www.regenet.eu), a pan-European network of clinicians and scientists from academia and industry seeking to generate and facilitate genetic and genomic studies to the clinical benefit of the renal patient.

This article has been prepared with the assistance of the European Union. The content of this review is the sole responsibility of the authors and can in no way be taken to reflect the views of the European Union. The authors have no conflicts of interest that are directly relevant to the content of this review.

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Correspondence to Maarten J. Postma.

Appendix

Appendix

1. Search Strategy

1.1 Search Limits

  1. 1.

    Publication year: January 2000 up until December 2007

  2. 2.

    Studies in humans

  3. 3.

    No language restrictions.

1.2 Keywords

Pharmacoeconomic terms: ‘cost-effectiveness’ OR ‘cost effectiveness’ OR ‘costeffectiveness’ OR ‘cost-utility’ OR ‘cost utility’ OR ‘costutility’ OR ‘cost-benefit’ OR ‘cost benefit’ OR ‘costbenefit’ OR ‘cost-minimization’ OR ‘cost minimization’ OR ‘costminimization’ OR ‘cost-minimisation’ OR ‘cost minimisation’ OR ‘costminimisation’ OR ‘Pharmacoeconomics’ OR ‘Pharmacoeconomic’ OR ‘Pharmaco-economic’ OR ‘Pharmaco-economics’ OR ‘Pharmaco economic’ OR ‘Pharmaco economics’.

Pharmacogenetic terms: ‘pharmaco-genetics’ OR ‘pharmacogenetics’ OR ‘pharmaco genetics’ OR ‘pharmaco-genetic’ OR ‘pharmacogenetic’ OR ‘pharmaco genetic’ OR ‘pharmacopharmacogenomics’ OR ‘pharmacogenomics’ OR ‘pharmaco genomics’ OR ‘pharmacopharmacogenomic’ OR ‘pharmacogenomic’ OR ‘pharmaco genomic’ OR ‘genotyping’ OR ‘genetic screening’ OR ‘genetic testing’ OR ‘genotyped’ OR ‘polymorphism screening’.

1.3 Search Strategy

  1. 1.

    Search pharmacoeconomic terms

  2. 2.

    Search pharmacogenetic terms

  3. 3.

    Combine pharmacoeconomic and pharmacogenetic terms

  4. 4.

    Exclude reviews, editorials and other non-research articles

  5. 5.

    Screen title and/or abstract for pharmacoeconomic studies on pharmacogenetic or pharmacogenomic screening strategies.

1.4 PubMed Search Results

  1. 1.

    Pharmacoeconomic terms: 18 546

  2. 2.

    Pharmacogenetic terms: 27 680

  3. 3.

    Combined terms: 285

  4. 4.

    Non-research articles excluded: 156

  5. 5.

    Final selection: 20.

1.5 ISI Search Results

  1. 1.

    Pharmacoeconomic terms: 22 810

  2. 2.

    Pharmacogenetic terms: 28 085

  3. 3.

    Combined terms: 211

  4. 4.

    Exclusion of non-research: 144

  5. 5.

    Final selection: 18, (compared to the PubMed search, Meckley and Veenstra,[32] Desta et al.[17] were not located).

1.6 EMBASE Search Results

  1. 1.

    Pharmacoeconomic terms: 59 859

  2. 2.

    Pharmacogenetic terms: 30 457

  3. 3.

    Combined terms: 904

  4. 4.

    Exclusion of non-research: 439

  5. 5.

    Final selection: 17, (compared with the PubMed search, Tavadia et al.,[26] Desta et al.,[17] Veenstra et al.[37] were not located).

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Vegter, S., Boersma, C., Rozenbaum, M. et al. Pharmacoeconomic Evaluations of Pharmacogenetic and Genomic Screening Programmes. Pharmacoeconomics 26, 569–587 (2008). https://doi.org/10.2165/00019053-200826070-00005

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