Journal of medical genetics · 2025
Economic evaluation of personalised versus conventional risk assessment for women who have undergone testing for hereditary breast and ovarian cancer genes: a modelling study.
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Xi Qin, Fennell Nichola, Archer Stephanie, Tischkowitz Marc, Antoniou Antonis C, Morris Stephen
Аннотация
BACKGROUND: The 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.
METHOD: We 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.
RESULTS: Across 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 PALB2 who have OC or BC+OC family history, and women with a GPV in ATM, CHEK2, RAD51C or RAD51D. For women with a GPV in BRCA1 or BRCA2, women with no pathogenic variant and women with a GPV in PALB2 who have unknown family history or BC family history, CRA was more cost-effective. PRA was cost-effective compared with CRA in specific situations predominantly associated with moderate-risk BC GPVs (RAD51C/RAD51D/CHEK2/ATM), while CRA was cost-effective compared with PRA predominantly with high-risk BC GPVs (BRCA1/BRCA2/PALB2).
CONCLUSION: PRA 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.
METHOD: We 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.
RESULTS: Across 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 PALB2 who have OC or BC+OC family history, and women with a GPV in ATM, CHEK2, RAD51C or RAD51D. For women with a GPV in BRCA1 or BRCA2, women with no pathogenic variant and women with a GPV in PALB2 who have unknown family history or BC family history, CRA was more cost-effective. PRA was cost-effective compared with CRA in specific situations predominantly associated with moderate-risk BC GPVs (RAD51C/RAD51D/CHEK2/ATM), while CRA was cost-effective compared with PRA predominantly with high-risk BC GPVs (BRCA1/BRCA2/PALB2).
CONCLUSION: PRA 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.
Предметные рубрики MeSH
HumansFemaleGenetic TestingRisk AssessmentCost-Benefit AnalysisGenetic Predisposition to DiseaseOvarian NeoplasmsBreast NeoplasmsQuality-Adjusted Life YearsPrecision MedicineHereditary Breast and Ovarian Cancer SyndromeGerm-Line MutationBRCA2 ProteinMarkov ChainsMiddle AgedBRCA1 ProteinAdultFanconi Anemia Complementation Group N Protein