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Health Economics

Session: Poster Session C

(104) Determining the cost-effectiveness of pre-emptive genetic testing: an umbrella review

Wednesday, August 28, 2024
8:00 AM – 1:30 PM CEST
Location: Convention Hall II

    Presenting Author(s)

  • Taichi Ochi, MSc LLM (he/him/his)

    PhD Researcher
    PharmacoTherapy, Epidemiology and Economics, Groningen Research Institute of Pharmacy, University of Groningen, Groningen, The Netherlands, Netherlands

    • Co-Author(s)

  • MD

    Manon Den Uil

    Division Laboratories, Pharmacy and Biomedical Genetics, Clinical Pharmacy, University Medical Centre Utrecht, Netherlands

  • GP

    Greta Piazza

    Department of PharmacoTherapy, -Epidemiology & -Economics, Groningen Research Institute of Pharmacy, Netherlands

  • GF

    Geert Frederix

    Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Netherlands

  • EH

    Eelko Hak, PhD

    PharmacoTherapy, -Epidemiology and -Economics, Groningen Research Institute of Pharmacy, University of Groningen, 9713 AV Groningen, The Netherlands, Netherlands

  • VD

    Vera Deneer

    Division Laboratories, Pharmacy and Biomedical Genetics, Clinical Pharmacy, University Medical Centre Utrecht, Netherlands

  • TL

    Talitha L. Feenstra

    Pharmaco-Therapy, -Epidemiology and -Economics, Faculty of Science & Engineering, University of Groningen, The Netherlands, Netherlands

Background: Consortia have been established and published pharmacogenetic-specific guidelines with pharmacotherapeutic recommendations. While these consortia and their guidance addressed important information gaps, such as pharmacotherapeutic recommendations for patients with specific genotypes, implementation barriers including determining the cost-effectiveness for further implementation to healthcare practice remain left unaddressed.

Objectives: To investigate systematic reviews of pharmacoeconomic evaluations of pharmacogenetic studies or drug-gene interactions and develop a comprehensive overview to determine the cost-effectiveness of pharmacogenetic testing.

Methods: The authors systematically searched PubMed, EMBASE and Web of Science from inception to March 2023 for systematic reviews of pharmacoeconomic evaluations of PGx studies. The studies from the databases were imported into Rayyan for screening the title and abstract, based on the inclusion and exclusion criteria. The umbrella review was conducted in adherence to the proposal registered in PROSPERO (CRD42023408535).

Results: From the initial screening of the three databases, title and abstract screening and full paper readings, 15 systematic reviews were included for the umbrella review. The evidence points that with an increasing number of evaluations, the evidence for the cost-effectiveness of PGx testing has increased over the years.

From the included reviews, data from 196 unique evaluation studies were extracted and investigated. 138 (70.4%) studies reported in their conclusions that PGx testing was cost-effective. The most frequently used type of economic evaluation was cost-utility analysis (n = 74). Most economic evaluations investigated the pharmacogene CYP2C19 (n = 39), followed closely by the combination CYP2C9/VKORC1 (n = 28).

Conclusions: With increasing evidence of the cost-effectiveness of pharmacogenetic testing, the economic barrier for its implementation in clinical practice in the United States seems to be minimal. However, when applying findings to other countries, the evaluations need to be adjusted on a case-by-case basis for applicability.