# Economic evaluation of germline genetic testing for breast cancer in low- and middle-income countries: a systematic review

**Authors:** Sook Pin Goh, Siew Chin Ong, Jue Ern Chan

PMC · DOI: 10.1186/s12885-024-12038-7 · BMC Cancer · 2024-03-07

## TL;DR

This study reviews the cost-effectiveness of genetic testing for breast cancer in low- and middle-income countries, finding it cost-effective in some but not all regions.

## Contribution

The paper provides a systematic review of economic evaluations of germline genetic testing for breast cancer in low- and middle-income countries.

## Key findings

- Germline testing is cost-effective in upper-middle-income countries like Malaysia, China, and Brazil.
- Testing is less cost-effective in lower-middle-income countries like India.
- Multigene testing is more cost-effective than BRCA-only testing in some scenarios.

## Abstract

Breast cancer (BC) is the most common cancer affecting women globally. Genetic testing serves as a prevention and treatment strategy for managing BC. This study aims to systematically review economic evaluations and the quality of selected studies involving genetic screening strategies for BC in low and middle-income countries (LMICs).

A search was performed to identify related articles that were published up to April 2023 on PubMed, Embase, CINAHL, Web of Science, and the Centre for Reviews and Dissemination. Only English-language LMIC studies were included. Synthesis of studies characteristics, methodological and data input variations, incremental cost-effectiveness ratios (ICERs), and reporting quality (Consolidated Health Economic Evaluation Reporting Standards (CHEERS) 2022 checklist) were performed.

This review found five pertinent studies, mainly focusing on economic evaluations of germline genetic testing in upper-middle-income countries (Upper MICs) like Malaysia, China, and Brazil. Only one study covered multiple countries with varying incomes, including lower-middle-income nations (Lower MICs) like India. The ICERs values in various screening scenarios for early-stage BC, HER2 negative BC patients, and healthy women with clinical or family history criteria were ranging from USD 2214/QALY to USD 36,342/QALY. Multigene testing for all breast cancer patients with cascade testing was at USD 7729/QALY compared to BRCA alone. Most studies adhered to the CHEERS 2022 criteria, signifying high methodological quality.

Germline testing could be considered as cost-effective compared to no testing in Upper MICs (e.g., Malaysia, China, Brazil) but not in Lower MICs (e.g., India) based on the willingness-to-pay (WTP) threshold set by each respective study. Limitations prevent a definite conclusion about cost-effectiveness across LMICs. More high-quality studies are crucial for informed decision-making and improved healthcare practices in these regions.

The online version contains supplementary material available at 10.1186/s12885-024-12038-7.

## Linked entities

- **Diseases:** breast cancer (MONDO:0004989)

## Full-text entities

- **Genes:** BRCA1 (BRCA1 DNA repair associated) [NCBI Gene 672] {aka BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4}, ERBB2 (erb-b2 receptor tyrosine kinase 2) [NCBI Gene 2064] {aka CD340, HER-2, HER-2/neu, HER2, MLN 19, MLN-19}
- **Diseases:** BC (MESH:D001943), cancer (MESH:D009369)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

64 references — full list in the complete paper: https://tomesphere.com/paper/PMC10919043/full.md

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Source: https://tomesphere.com/paper/PMC10919043