Lifetime Cost-Effectiveness of Hereditary Breast and Ovarian Cancer Prevention Based on FinnGen and Biobank Data, Data Returning Process, and Prophylaxis


Soini E1, Asseburg C2, Jalkanen K2, Pehrsson M3, Lundström T2, Meretoja T4, Hautalahti M5, Salminen E6, Auranen A7, Mäkelä J5, Carpén O8
1ESiOR Oy, Kuopio, 15, Finland, 2ESiOR Oy, Kuopio, Northern Savo, Finland, 3Helsinki Biobank, Helsinki University Hospital, Helsinki, Uusimaa, Finland, 4Department of Breast Surgery, HUS Comprehensive Cancer Center, Helsinki University Hospital. Institute for Molecular Medicine Finland, Helsinki, Uusimaa, Finland, 5Finnish Biobank Cooperative – FINBB, Turku, Southwest Finland, Finland, 6Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki. Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Uusimaa, Finland, 7Department of Obstetrics and Gynecology, Tampere University Hospital, Wellbeing Services County of Pirkanmaa. Tays Cancer Centre. Faculty of Medicine and Health Technology, Tampere University, Tampere, Pirkanmaa, Finland, 8Helsinki Biobank and HUS Diagnostic Center, Helsinki University Hospital. Department of Pathology, University of Helsinki, Helsinki, Uusimaa, Finland

OBJECTIVES: Lifetime cost-effectiveness of returning validated genetic hereditary breast and ovarian cancer (HBOC) risk information to female sample donors was assessed.

METHODS: The FinnGen biobank study analyses genome and health data from 500,000 Finnish biobank participants. The genotyping data produced in the FinnGen study and returned to biobanks was screened for pathogenic variants in BRCA1, BRCA2, and PALB2 genes, and the potential carrier status was verified by sequencing.

To assess the cost-effectiveness of reporting individual HBOC risk results to biobank participants, a cohort simulation model was built with R. Women aged 20-79 years with pathogenic BRCA1/2 or PALB2 variants have a high risk of HBOC; thus, prophylactic interventions, intensified breast cancer (BC) imaging screening, or no change was modelled after the recall. The current care with no recall was the comparator. Modelling followed Finnish guidelines and real-world data.

Discounting (3 %/year) was applied to the societal results including health care costs and illness allowances (2022 value). Outcomes included the number of BC/ovarian cancer (OC) cases, deaths due to BC/OC, costs, life-years, quality-adjusted life-years (QALY), and net monetary benefit (NMB) with the estimated prophylaxis willingness-to-pay (28,488€/QALY gained). Sensitivity analyses included mutation type, age groups, and impact of relatives receiving the information.

RESULTS: FinnGen data-freeze 7 consisted of 173,746 female donor samples, of which 185 individual’s cohort was modelled to proceed to recall. The recall resulted in an average additional lifetime cost of 2099€/recalled woman.

In the cohort, BC/OCs (26% reduction) and cancer deaths (9% reduction) avoided as well as life-years (136) and QALYs (75) gained were in favor of recall. Recall provided value as the NMB was positive for women with BRCA1/2 mutations aged 20-79 years, and with PALB2 mutations aged 30-59 years.

CONCLUSIONS: Returning genomic information to sample donors resulted in noteworthy, modelled health gains and was cost-effective for HBOC.

Conference/Value in Health Info

2024-05, ISPOR 2024, Atlanta, GA, USA

Value in Health, Volume 27, Issue 6, S1 (June 2024)




Economic Evaluation, Methodological & Statistical Research, Patient-Centered Research

Topic Subcategory

Cost-comparison, Effectiveness, Utility, Benefit Analysis, Patient Engagement


Genetic, Regenerative & Curative Therapies, Oncology, Personalized & Precision Medicine, Surgery

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