A Systematic Review of Economic Evaluation of Genetic Screening for Patients Prior to Autoimmune Therapy
Author(s)
Yudisia Ausi, M. Clin. Pharm1, Yasmin Fatinah, M. Pharm1, Neily Zakiyah, PhD2, Auliya Abdurrohim Suwantika, PhD2, Maarten Jacobus Postma, PhD3, Rano Kurnia Sinuraya, PhD2, Melisa Intan Barliana, Dr. Med. Sc4.
1Doctoral Program in Pharmacy, Universitas Padjadjaran, Jatinangor, Indonesia, 2Department of Pharmacology and Clinical Pharmacy, Universitas Padjadjaran, Jatinangor, Indonesia, 3Unit of Global Health, Department of Health Sciences, University Medical Center Groningen, University of Groningen, Groningen, Netherlands, 4Department of Biological Pharmacy, Universitas Padjadjaran, Jatinangor, Indonesia.
1Doctoral Program in Pharmacy, Universitas Padjadjaran, Jatinangor, Indonesia, 2Department of Pharmacology and Clinical Pharmacy, Universitas Padjadjaran, Jatinangor, Indonesia, 3Unit of Global Health, Department of Health Sciences, University Medical Center Groningen, University of Groningen, Groningen, Netherlands, 4Department of Biological Pharmacy, Universitas Padjadjaran, Jatinangor, Indonesia.
OBJECTIVES: Autoimmune disease (AID) induces a considerable clinical and economic burden, especially when the disease progresses, treatment is inadequate, or adverse events occur. Pharmacogenetic screening offers potential in enhancing treatment outcomes and decreasing healthcare costs. This systematic review aims to summarize the existing studies on the economic evaluation of pharmacogenetic testing as an approach to personalized medicine in AID therapy.
METHODS: A search was performed using PubMed, EBSCOHost, and Scopus databases. Only full-economic evaluation studies, published during 2000-2024, that involved AID patients and considered pharmacogenetic interventions were included in the analysis. Quality reporting of included studies was evaluated according to the Consolidated Health Economic Evaluation Reporting Standards (CHEERS) 2022 Reporting Guideline. The main findings were summarized with a narrative approach. Studies were stratified into 1) systemic and rheumatoid AID group (attempting TPMT or MTHFR gene), 2) gastrointestinal AID group (attempting TPMT and/or NUDT15 gene). This systematic review was registered in PROSPERO (number: CRD42024609808).
RESULTS: Nine out of 892 identified articles were included. All studies were from high-income countries (HICs), and nearly all (88.89%) of the studies used a healthcare or payer perspective. Only two studies were conducted alongside clinical trials, and the others were model-based studies (applied decision tree model) with various health outcomes. Eight out of 13 identified scenarios were in favor of the genotyping strategy (7.69% cost-effective and 53.85% cost-saving), while four studies (30.77%) showed not cost-effective results, and the remaining one study (7.69%) was both less effective and less costly. All studies that evaluated genotyping strategy in systemic and rheumatoid AID (n=3) showed that this intervention dominates over standard therapy.
CONCLUSIONS: Pharmacogenetic testing reveals economic and therapeutic advantages for AID treatment, especially for systemic and rheumatoid AIDs. Nonetheless, additional study is required to assess its cost-effectiveness in low- and middle-income countries (LMICs).
METHODS: A search was performed using PubMed, EBSCOHost, and Scopus databases. Only full-economic evaluation studies, published during 2000-2024, that involved AID patients and considered pharmacogenetic interventions were included in the analysis. Quality reporting of included studies was evaluated according to the Consolidated Health Economic Evaluation Reporting Standards (CHEERS) 2022 Reporting Guideline. The main findings were summarized with a narrative approach. Studies were stratified into 1) systemic and rheumatoid AID group (attempting TPMT or MTHFR gene), 2) gastrointestinal AID group (attempting TPMT and/or NUDT15 gene). This systematic review was registered in PROSPERO (number: CRD42024609808).
RESULTS: Nine out of 892 identified articles were included. All studies were from high-income countries (HICs), and nearly all (88.89%) of the studies used a healthcare or payer perspective. Only two studies were conducted alongside clinical trials, and the others were model-based studies (applied decision tree model) with various health outcomes. Eight out of 13 identified scenarios were in favor of the genotyping strategy (7.69% cost-effective and 53.85% cost-saving), while four studies (30.77%) showed not cost-effective results, and the remaining one study (7.69%) was both less effective and less costly. All studies that evaluated genotyping strategy in systemic and rheumatoid AID (n=3) showed that this intervention dominates over standard therapy.
CONCLUSIONS: Pharmacogenetic testing reveals economic and therapeutic advantages for AID treatment, especially for systemic and rheumatoid AIDs. Nonetheless, additional study is required to assess its cost-effectiveness in low- and middle-income countries (LMICs).
Conference/Value in Health Info
2025-09, ISPOR Real-World Evidence Summit 2025, Tokyo, Japan
Value in Health Regional, Volume 49S (September 2025)
Code
RWD56
Topic Subcategory
Distributed Data & Research Networks
Disease
STA: Personalized & Precision Medicine