From Biobank Sample to Breast Cancer Prevention—Cost-Effectiveness Analysis of Returning Genomic Data to Sample Donors


Soini E1, Asseburg C2, Pehrsson M3, Lundström T2, Meretoja T4, Hautalahti M5, Salminen E6, Mäkelä J5, Carpén O7
1ESiOR Oy, Kuopio, 15, Finland, 2ESiOR Oy, Kuopio, Finland, 3Helsinki Biobank, Helsinki University Hospital, Helsinki, Finland, 4Department of Breast Surgery, HUS Comprehensive Cancer Center, Helsinki University Hospital, Helsinki, Finland. Institute for Molecular Medicine Finland, Helsinki, Finland, 5Finnish Biobank Cooperative – FINBB, Turku, Finland, 6Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki, Helsinki, Finland, 7Helsinki Biobank, Helsinki University Hospital, Helsinki, Finland. Department of Pathology, HUS Diagnostic Center, University of Helsinki, Helsinki, Finland

OBJECTIVES: The FinnGen study analyses genome and health data from 500,000 Finnish biobank participants to better understand the genetic basis of diseases. We assessed the feasibility and cost-effectiveness of returning validated genetic cancer risk information to female sample donors.

METHODS: The genotyping data from FinnGen was screened for BReast CAncer gene 1 or 2 (BRCA1 or BRCA2) or Partner And Localizer of BRCA2 (PALB2) variants, and the potential carrier status was further verified by sequencing.

To assess the cost-effectiveness of reporting individual genomic results to participants, a cohort simulation model was built with R. Women 20-79 years of age with pathogenic variants have a high risk of breast cancer (BC); thus, prophylactic intervention, intensified BC screening, or no change was modelled after the recall. No recall (current process) was the comparator.

A societal lifetime horizon with 3%/year discounting was applied. Prophylaxis was based on guidelines and BC treatment on Finnish real-world evidence.

Outcomes included the number of BC cases, deaths due to BC, costs (2022 value), life-years, quality-adjusted life-years (QALY), and net monetary benefit (NMB) with the 37,364€/QALY gained willingness-to-pay. Sensitivity analyses included mutation type and age groups.

RESULTS: FinnGen data-cut 7 consisted of 173,746 female donor samples, of which 190 individuals were estimated to proceed to recall. The recall resulted in an average additional lifetime cost of 3509€/recalled woman (42% due to the recalling process).

BC cases and deaths avoided as well as life-years and QALYs gained were clinically noteworthily in favour of recall. NMB was positive for women with BRCA1 and BRCA2 aged 20-59 years, and with PALB2 aged 20-69 years.

CONCLUSIONS: Returning genomic data to sample donors resulted in noteworthy health gains and was feasible and cost-effective. Further studies regarding the impact of ovarian cancer and relatives are warranted and should further improve the simulation outcomes.

Conference/Value in Health Info

2023-11, ISPOR Europe 2023, Copenhagen, Denmark

Value in Health, Volume 26, Issue 11, S2 (December 2023)




Economic Evaluation, Medical Technologies, Patient-Centered Research

Topic Subcategory

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


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

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