Evidence map›Paper›PMID 40210464›Full record

ArticleJournal of medical genetics2025

Economic evaluation of personalised versus conventional risk assessment for women who have undergone testing for hereditary breast and ovarian cancer genes: a modelling study.

Qin Xi, Nichola Fennell, Stephanie Archer, Marc Tischkowitz, Antonis C Antoniou, Stephen Morris

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Article in Journal of medical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

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No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Qin XiDepartment of Public Health and Primary Care, University of Cambridge, Cambridge, UK qx228@cam.ac.uk.ORCID http://orcid.org/0000-0002-9712-4688
Nichola FennellDepartment of Medical Genetics, University of Cambridge, Cambridge, UK.
Stephanie ArcherDepartment of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Marc TischkowitzDepartment of Medical Genetics, University of Cambridge, Cambridge, UK.
Antonis C AntoniouDepartment of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-9223-3116
Stephen MorrisDepartment of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe management of women with germline pathogenic variants (GPVs) in breast (BC) and ovarian cancer (OC) susceptibility genes is focused on surveillance and risk-reducing surgery/medication. Most women are assigned an average range of risk and treated accordingly, but it is possible to personalise this. Here, we explore the economic impact of risk personalisation.

methodWe compared two strategies for risk stratification for female participants: conventional risk assessment (CRA), which only involves information from genetic testing and personalised risk assessment (PRA), using genetic and non-genetic risk modifiers. Three different versions of PRA were compared, which were combinations of polygenic risk score and questionnaire-based factors. A patient-level Markov model was designed to estimate the overall National Health Service cost and quality-adjusted life years (QALYs) after risk assessment. Results were given for 20 different groups of women based on their GPV status and family history.

resultsAcross the 20 scenarios, the results showed that PRA was cost-effective compared with CRA using a £20 000 per QALY threshold in women with a GPV in

conclusionPRA was cost-effective in specific situations compared with CRA in the UK for assessment of women with or without GPVs in BC and OC susceptibility genes.

Indexed as

Breast NeoplasmsGenetic TestingHereditary Breast and Ovarian Cancer SyndromeOvarian NeoplasmsPrecision MedicineAdultBRCA1 ProteinBRCA2 ProteinCost-Benefit AnalysisFanconi Anemia Complementation Group N ProteinFemaleGenetic Predisposition to DiseaseGerm-Line MutationHumansMarkov ChainsMiddle AgedBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinFanconi Anemia Complementation Group N Proteincosts and cost analysiseconomicsgenetic testing

Identifiers

PMID40210464
PMCPMC12322399

What Socratic holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.