Economic Evaluation of Pharmacogenomics: A Value-Based Approach to Pragmatic Decision Making in the Face of Complexity

Evidence of the value of pharmacogenomic testing is needed to inform policymakers and clinicians for decision making related to adoption and coverage, and to facilitate prioritization for research and development. Pharmacogenomics has an important role in creating a more efficient healthcare system, and this article addresses how economic evaluation can strategically target evidence gaps for public health priorities with examples from pharmacogenomic medicine. This article begins with a review of the need for and use of economic evaluations in value-based decision making for pharmacogenomic testing. Three important gaps are described with examples demonstrating how they can be addressed: (1) projected impact of hypothetical new technology, (2) pre-implementation assessment of a specific technology, and (3) post-implementation assessment from relevant analytical stakeholder perspectives. Additional needs, challenges and approaches specific to pharmacogenomic economic evaluation in the developing world are also identified. These pragmatic approaches can provide much needed evidence to support real-world value-based decision making for pharmacogenomic-based screening and treatment strategies.

[1]  A. Schuh,et al.  Issues surrounding the health economic evaluation of genomic technologies. , 2013, Pharmacogenomics.

[2]  Muin J Khoury,et al.  What is the clinical utility of genetic testing? , 2006, Genetics in Medicine.

[3]  K. Payne,et al.  Current methodological issues in the economic assessment of personalized medicine. , 2013, Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research.

[4]  Michel Wensing,et al.  What drives change? Barriers to and incentives for achieving evidence‐based practice , 2004, The Medical journal of Australia.

[5]  Alejandra Duenas,et al.  Multiple criteria decision analysis for health technology assessment. , 2012, Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research.

[6]  David Moher,et al.  Consolidated Health Economic Evaluation Reporting Standards (CHEERS) statement , 2013, Cost Effectiveness and Resource Allocation.

[7]  L. Garrison,et al.  A Formal Risk-benefit Framework for Genomic Tests: Facilitating the Appropriate Translation of Genomics into Clinical Practice , 2022 .

[8]  M. Joore,et al.  How should we deal with patient heterogeneity in economic evaluation: a systematic review of national pharmacoeconomic guidelines. , 2013, Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research.

[9]  Marc S. Williams,et al.  Genomic medicine implementation: Learning by example , 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

[10]  Kathryn A Phillips,et al.  The economic value of personalized medicine tests: what we know and what we need to know , 2013, Genetics in Medicine.

[11]  T. Kauf,et al.  Economic Efficiency of Genetic Screening to Inform the Use of Abacavir Sulfate in the Treatment of HIV , 2012, PharmacoEconomics.

[12]  Dan M. Roden,et al.  Implementing genomic medicine in the clinic: the future is here , 2013, Genetics in Medicine.

[13]  M Eccles,et al.  How to develop cost-conscious guidelines. , 2001, Health technology assessment.

[14]  J. Mar,et al.  Cost-effectiveness of protease inhibitor based regimens for chronic hepatitis C: a systematic review of published literature , 2014, Expert review of pharmacoeconomics & outcomes research.

[15]  S. Teutsch,et al.  The art and science of incorporating cost effectiveness into evidence-based recommendations for clinical preventive services. , 2001, American journal of preventive medicine.

[16]  J. Rubenstein,et al.  The cost‐effectiveness of biomarkers for predicting the development of oesophageal adenocarcinoma , 2005, Alimentary pharmacology & therapeutics.

[17]  S. Shirasawa,et al.  KRAS mutation confers resistance to antibody‐dependent cellular cytotoxicity of cetuximab against human colorectal cancer cells , 2014, International journal of cancer.

[18]  B. Peters,et al.  Personalized pharmacogenomics profiling using whole-genome sequencing. , 2014, Pharmacogenomics.

[19]  A. Andriulli,et al.  Meta‐analysis: the outcome of anti‐viral therapy in HCV genotype 2 and genotype 3 infected patients with chronic hepatitis , 2008, Alimentary pharmacology & therapeutics.

[20]  M. Ghany,et al.  An Update on Treatment of Genotype 1 Chronic Hepatitis C Virus Infection: 2011 Practice Guideline by the American Association for the Study of Liver Diseases , 2011, Hepatology.

[21]  Carlo Gambacorti-Passerini,et al.  Part I: Milestones in personalised medicine--imatinib. , 2008, The Lancet. Oncology.

[22]  W. Tassaneeyakul,et al.  Relationship between the HLA-B*1502 allele and carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis: a systematic review and meta-analysis. , 2013, JAMA dermatology.

[23]  F. Pang,et al.  Generalisability in economic evaluation studies in healthcare: a review and case studies. , 2004, Health technology assessment.

[24]  Jeffrey R. Botkin,et al.  Summary of Recommendations: The Evaluation of Genomic Applications , 2022 .

[25]  Julie A. Johnson,et al.  Pharmacogenetics in clinical practice: how far have we come and where are we going? , 2013, Pharmacogenomics.

[26]  Jan Jones,et al.  Personalizing health care: feasibility and future implications , 2013, BMC Medicine.

[27]  Marc S. Williams,et al.  Lynch syndrome screening implementation: business analysis by a healthcare system. , 2011, The American journal of managed care.

[28]  P. Keeling,et al.  Towards a balanced value business model for personalized medicine: an outlook. , 2013, Pharmacogenomics.

[29]  Zuyao Yang,et al.  KRAS p.G13D mutation and codon 12 mutations are not created equal in predicting clinical outcomes of cetuximab in metastatic colorectal cancer , 2013, Cancer.

[30]  R. Street,et al.  Patients' intuitive judgments about surveillance endoscopy in Barrett's esophagus: a review and application to models of decision-making. , 2013, Diseases of the esophagus : official journal of the International Society for Diseases of the Esophagus.

[31]  A. Beitelshees,et al.  Evolving research and stakeholder perspectives on pharmacogenomics. , 2011, JAMA.

[32]  Katherine Payne,et al.  Challenges in the development and reimbursement of personalized medicine-payer and manufacturer perspectives and implications for health economics and outcomes research: a report of the ISPOR personalized medicine special interest group. , 2012, Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research.

[33]  Heather Hampel,et al.  The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer , 2010, Genetics in Medicine.

[34]  Kenneth Koury,et al.  For Personal Use. Only Reproduce with Permission from the Lancet Publishing Group , 2022 .

[35]  G. Patrinos,et al.  Relevance of pharmacogenomics for developing countries in Europe , 2011, Drug metabolism and drug interactions.

[36]  E. Gillanders,et al.  Population Sciences, Translational Research, and the Opportunities and Challenges for Genomics to Reduce the Burden of Cancer in the 21st Century , 2011, Cancer Epidemiology, Biomarkers & Prevention.

[37]  Marc S. Williams,et al.  Impact of age cutoffs on a lynch syndrome screening program. , 2013, Journal of oncology practice.

[38]  E. Finkelstein,et al.  Cost-effectiveness of HLA-B*1502 genotyping in adult patients with newly diagnosed epilepsy in Singapore , 2012, Neurology.

[39]  R. Sampliner,et al.  Dysplasia and cancer in a large multicenter cohort of patients with Barrett's esophagus. , 2006, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.

[40]  Jonathan Karnon,et al.  Model Parameter Estimation and Uncertainty: a Report of the Ispor-smdm Modeling Good Research Practices Task Force-6 Background to the Task Forcemodel-parameter-estimation-and- Uncertainty-analysis.asp). a Summary of These Articles Was Pre- Sented at a Plenary Session at the Ispor 16th Annual Intern , 2022 .

[41]  Adrian Towse,et al.  APPROACHES TO IDENTIFYING, MEASURING, AND AGGREGATING ELEMENTS OF VALUE , 2013, International Journal of Technology Assessment in Health Care.

[42]  Yao Ju,et al.  HLA-B~*5701 screening for hypersensitivity to abacavir , 2011 .

[43]  N. Božina,et al.  Economic evaluation of pharmacogenomic-guided warfarin treatment for elderly Croatian atrial fibrillation patients with ischemic stroke. , 2015, Pharmacogenomics.

[44]  K. Marsh,et al.  Assessing the Value of Healthcare Interventions Using Multi-Criteria Decision Analysis: A Review of the Literature , 2014, PharmacoEconomics.

[45]  Ji-yeon Kim,et al.  Application of Cancer Genomics to Solve Unmet Clinical Needs , 2013, Genomics & informatics.