GenomeHealth project returns genetic results to the biobank donors via healthcare and utilises digital MyBiobank service in contacting donors

Problem statement

Biobanks collect and store biological samples and related health information for biomedical research. When conducting research with biobank samples, researchers commit to returning analysed data, such as genomic information, back to the biobank. The research information returned to biobanks is later available for other studies, enriching the data repository maintained by the biobank and enabling cost-effective research. As genomic data analysing studies have become more common and data has been returned to biobanks, biobanks have become a significant source of genetic information. In the FinnGen study, about 500,000 new samples have been collected from Finnish biobanks by 2024, and the genotyping information produced from these samples is returned to the biobanks. This vast amount of genomic data in biobanks open’s possibilities for further research and especially in personalized medicine to benefit the patients.

The Biobank Act mandates the return of individual health information determined from research samples, such as genomic information, upon request. Biobanks ask in the biobank consent whether the consent giver wishes to be contacted by the biobank if findings which are of significance to health are revealed in the biobank study. Of Helsinki Biobank donors about 99% of those who gave biobank consent wish to be contacted in this case (Manninen et al. 2019). The starting point of the Finnish Biobank Act and Genome Strategy is that genomic information can and should be utilized, not only in research but also in healthcare. Hospital biobanks in Finland have been built in connection with healthcare, which creates excellent conditions for the utilization of biobank research results. Biobank studies can significantly promote personalized medicine if the results accumulated from the studies are utilized in healthcare.

Project setup and solution

The GenomeHealth project, a national initiative to explore the utilization of genomic information accumulated in biobank operations in healthcare, was launched in Finland’s hospital biobanks in the fall of 2021. The project was carried out by all six Finnish hospital biobanks, funded by a state grant from the Ministry of Social Affairs and Health between 2021-2023. The aim of the project was to examine the use of single nucleotide polymorphism (SNP) -array genotyping data for identification of rare genetic variants, study the significance of genetic information for the biobank sample donor, and to build a process for utilizing genomic data at the individual level. The GenomeHealth project investigated how genomic information produced in biobank research projects could be utilized in clinical care, how this should be implemented, and mapped the costs arising from the implementation. During the project, Finnish hospital biobanks developed with the assistance of medical geneticists and genetics nurses uniform processes, tools, and counselling materials that enable the findings of genomic information from research projects to be transferred to biobank donors for the benefit of their health. This represents a significant step towards integrating biobank research findings into practical healthcare applications.

In the GenomeHealth project, defects in three high-risk cancer susceptibility genes, BRCA1, BRCA2, and PALB2, were screened and validated from genotyping data produced from biobank samples. High-risk pathogenic variants in these genes predispose individuals especially to breast, ovarian, and prostate cancer. It is estimated that about 70% of female carriers of BRCA1 and BRCA2 mutations will develop breast cancer in their lifetime, while the risk of ovarian cancer is 45% for BRCA1 carriers and 15% for BRCA2 carriers (Kuchenbaecker et al. 2017). Similarly, PALB2 mutations are associated with a lifetime breast cancer risk of about 30-60% (Antoniou et al. 2014). The variants selected to be screened in the project are well-known, and there are clear action models and treatment recommendations for them, including enhanced follow-up, preventive surgery, and targeted therapy such as PARP inhibitors.

Outcomes

In the GenomeHealth project, high-risk cancer susceptibility gene defects in BRCA1, BRCA2, and PALB2, were screened and validated from over 200 000 biobank samples. The model for results disclosure developed during the project was piloted by offering 124 biobank donors genetic research results. Sample donors were contacted with a general contact letter, which guided them to log into the MyBiobank (https://omabiopankki.fingenious.fi/). In the MyBiobank, the sample donors received information about the genetic changes under investigation and could, if they wished, give their approval for the analysis and disclosure of genetic results from their biobank sample. The preliminary result of the biobank sample was disclosed by the biobank in collaboration with experts in genetic counselling by phone to the sample donor, if they had given their separate approval for this. Sample donors were then referred to diagnostic testing and genetic counselling in healthcare. This process ensures that individuals can make informed decisions about receiving genetic research results. The Fingenious® MyBiobank digital service proved to be effective for the GenomeHealth project, facilitating information sharing and approval collection. The use of this digital service greatly conserves biobank resources by eliminating the need for postal correspondence and enabling direct digital data management.

The return of genomic results produced in biobanking incurs costs for the healthcare system, for example, due to diagnostic testing, genetic counselling, intensified monitoring, and preventive interventions. However, population-based screening of cancer risk genes has been shown to be cost-effective (Guzauskas et al. 2020, Manchanda et al. 2018), and when genomic information is already produced in the biobank, the cost-benefit is presumably even greater. As part of the GenomeHealth project, a cost-effectiveness analysis of the effects of returning genomic results produced in biobank operations was carried out by ESiOR Oy, funded by the Finnish Biobank Cooperative (FINBB). Within the framework of resources, it was possible to carry out a cost-effectiveness estimate in terms of the effects of women’s breast cancer treatment. This study as well as previous research showed that analyses of biobank samples can be done very cost-effectively, and in some cases, even saving costs. The results of the GenomeHealth project will be published later this year.

“The results of the GenomeHealth project are very encouraging. Our results demonstrate that genetic data accumulating to biobanks can be used in disease risk screening. Screening of biobank samples enables identification of mutant carriers undiagnosed in healthcare and can this way significantly enhance personalized medicine and impact disease prevention. The feedback of the biobank sample donors receiving genetic results is also very positive and utilizing biobank data can clearly bring tangible benefits at the individual level, reducing human suffering and saving lives through early disease detection or prevention. The Finnish healthcare system and biobank network, coupled with a high-level tradition of genetic research, provide a unique opportunity for preventive action on an international scale” says Minja Pehrsson, manager of the GenomeHealth project from Helsinki Biobank.

The GenomeHealth project was awarded the “Biobank Study of the Year 2023” by an independent scientific panel of experts and a recognition by the Finnish Biobank Cooperative (FINBB).

“This recognition highlights the significant contributions of the project in advancing the utilization of genomic biobank information in healthcare” says Marco Hautalahti, CEO of Finnish Biobank Cooperative – FINBB.

Fingenious®, operated by Finnish Biobank Cooperative – FINBB, is a gateway to Finnish biobanks and biomedical research that offers researchers easy access to high-quality public biobank samples, data, cohorts, and recruitable study participants. The MyBiobank is one of the Fingenious® digital services used for research subject (patient) reported outcome and returning information to participants from research. FINBB aims to enhance the competitiveness of Finnish health and biomedical research by providing researchers with centralized access to collections and services of the Finnish biobanks and their background organizations. FINBB's activities create value for its members and owners by providing services at the national level. FINBB is a cooperative owned by five wellbeing services counties, HUS, six largest universities in Finland, and the Finnish Institute for Health and Welfare (THL). FINBB has eight member biobanks.

References

* Antoniou A.C., Foulkes W.D., Tischkowitz M. Breast-cancer Risk in Families With Mutations in PALB2. N Engl J Med. 2014 Oct 23;371(17):1651-2.

* Guzauskas G.F., Garbett S., Zhou Z., et al. Cost-effectiveness of Population-Wide Genomic Screening for Hereditary Breast and Ovarian Cancer in the United States. JAMA Netw Open. 2020;3(10):e2022874.

* Kuchenbaecker K.B., Hopper J.L., Barnes D.R., ym. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 2017 Jun 20;317(23):2402- 2416.

* Manchanda R., Patel S., Gordeev V.S., Antoniou A.C., et al, Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women, JNCI: Journal of the National Cancer Institute, Volume 110, Issue 7, July 2018, Pages 714–725.

* Manninen, Pehrsson & Punkka 2019, 7. Vaatimusmäärittely biopankkien keskitetylle suostumuksenantajien osallistamisportaalille. https://projectsites.vtt.fi/sites/premed/files/Vaatimusmaarittely%20osallistamisportaalille.pdf