{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T02:57:16Z","timestamp":1791687436855,"version":"4.3.4"},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T00:00:00Z","timestamp":1765929600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T00:00:00Z","timestamp":1766361600000},"content-version":"vor","delay-in-days":5,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    In the era of genomic medicine, utilizing genetic information in the concept of personalized medicine has become widely attractive. In addition to the large-scale population level data sets, professional, standardized and legislated operating environment of the biobanks has enabled their growing footprint in the field of personalized medicine. Moreover, the biobank participants in the Finnish Red Cross Blood Service (FRCBS) Biobank have expressed high willingness to receive information relevant to their health. In this study we screened the FRCBS Biobank genome data,\n                    <jats:italic>N<\/jats:italic>\n                    \u2009=\u200943,868, for\n                    <jats:italic>HFE<\/jats:italic>\n                    C282Y (+\/+) genotype. Clinically verified results were returned to 82 biobank participants (0.19% of the total cohort). In addition, we conducted a survey on their experience on receiving genetic risk information from a biobank. We demonstrate a high occurrence of blood donors not being aware of their genetic risk, a relatively high penetrance of the\n                    <jats:italic>HFE<\/jats:italic>\n                    C282Y (+\/+) and a clear acceptance of receiving genetic risk information from the biobank by the participants. We show how genetic information stored in a biobank can be used in a precisely defined context, such as blood donation. Further comprehensive studies are needed to fully understand the possibilities biobanks could offer in personalized medicine.\n                  <\/jats:p>","DOI":"10.1186\/s12920-025-02285-3","type":"journal-article","created":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T07:06:30Z","timestamp":1765955190000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Biobank participants\u2019 perspectives on receiving genetic risk information from a biobank \u2013 the case of haemochromatosis"],"prefix":"10.1186","volume":"18","author":[{"given":"Jonna","family":"Clancy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janina","family":"Forst\u00e9n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elina","family":"Koskinen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikko","family":"Arvas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fredrik","family":"\u00c5berg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimmo","family":"Pitk\u00e4nen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Castr\u00e9n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,12,17]]},"reference":[{"key":"2285_CR1","unstructured":"Al Set. Lifetime cost-effectiveness of hereditary breast and ovarian cancer prevention based on FinnGen and Biobank data, data returning process, and prophylaxis. 2024. https:\/\/www.ispor.org\/heor-resources\/presentations-database\/presentation\/intl2024-3898\/138057."},{"key":"2285_CR2","doi-asserted-by":"publisher","first-page":"693253","DOI":"10.3389\/fgene.2021.693253","volume":"12","author":"AN Zimani","year":"2021","unstructured":"Zimani AN, Peterlin B, Kovanda A. Increasing genomic literacy through National genomic projects. Front Genet. 2021;12:693253.","journal-title":"Front Genet"},{"key":"2285_CR3","unstructured":"Genome Strategy - Finland. https:\/\/stm.fi\/documents\/1271139\/2013549\/UK-Genomistrategia-final-verkko+(1).pdf\/c079fdae-94ea-4869-91df-02603c9b44ed\/UK-Genomistrategia-final-verkko+(1).pdf?t=1678281581906."},{"key":"2285_CR4","doi-asserted-by":"publisher","first-page":"771","DOI":"10.1007\/s12253-018-0418-4","volume":"24","author":"W Paskal","year":"2018","unstructured":"Paskal W, Paskal AM, D\u0119bski T, Gryziak M, Jaworowski J. Aspects of modern biobank Activity - Comprehensive review. Pathol Oncol Res. 2018;24:771\u201385.","journal-title":"Pathol Oncol Res"},{"key":"2285_CR5","doi-asserted-by":"publisher","first-page":"3270","DOI":"10.1038\/s41467-025-58465-3","volume":"16","author":"L Milani","year":"2025","unstructured":"Milani L, et al. The Estonian biobank\u2019s journey from biobanking to personalized medicine. Nat Commun. 2025;16:3270.","journal-title":"Nat Commun"},{"key":"2285_CR6","doi-asserted-by":"publisher","first-page":"877891","DOI":"10.3389\/fgene.2022.877891","volume":"13","author":"T Wahlfors","year":"2022","unstructured":"Wahlfors T, et al. Reaching for precision healthcare in Finland via use of genomic data. Front Genet. 2022;13:877891.","journal-title":"Front Genet"},{"key":"2285_CR7","doi-asserted-by":"publisher","first-page":"1381","DOI":"10.1038\/s41436-021-01172-3","volume":"23","author":"DT Miller","year":"2021","unstructured":"Miller DT, et al. ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American college of medical genetics and genomics (ACMG). Genet Med. 2021;23:1381\u201390.","journal-title":"Genet Med"},{"key":"2285_CR8","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1163\/15718093-12341278","volume":"20","author":"S Soini","year":"2013","unstructured":"Soini S. Finland on a road towards a modern legal biobanking infrastructure. Eur J Health Law. 2013;20:289\u201394.","journal-title":"Eur J Health Law"},{"key":"2285_CR9","unstructured":"Finnish Biobank Act. https:\/\/www.finlex.fi\/fi\/laki\/ajantasa\/2012\/20120688."},{"key":"2285_CR10","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1038\/s41431-020-00760-2","volume":"29","author":"L Leitsalu","year":"2021","unstructured":"Leitsalu L, et al. Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants. Eur J Hum Genet. 2021;29:471\u201381.","journal-title":"Eur J Hum Genet"},{"key":"2285_CR11","first-page":"1173","volume":"21","author":"M Alver","year":"2019","unstructured":"Alver M, et al. Recall by genotype and cascade screening for Familial hypercholesterolemia in a population-based biobank from Estonia. Genet Med Off J Am Coll Med Genet. 2019;21:1173\u201380.","journal-title":"Genet Med Off J Am Coll Med Genet"},{"key":"2285_CR12","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1038\/s41431-020-00758-w","volume":"29","author":"G de Wert","year":"2021","unstructured":"de Wert G, et al. Opportunistic genomic screening. Recommendations of the European society of human genetics. Eur J Hum Genet. 2021;29:365\u201377.","journal-title":"Eur J Hum Genet"},{"key":"2285_CR13","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1038\/ng0896-399","volume":"13","author":"JN Feder","year":"1996","unstructured":"Feder JN, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996;13:399\u2013408.","journal-title":"Nat Genet"},{"key":"2285_CR14","doi-asserted-by":"publisher","first-page":"3018","DOI":"10.1182\/blood.2021011338","volume":"139","author":"D Girelli","year":"2022","unstructured":"Girelli D, et al. Hemochromatosis classification: update and recommendations by the BIOIRON society. Blood. 2022;139:3018\u201329.","journal-title":"Blood"},{"key":"2285_CR15","doi-asserted-by":"publisher","unstructured":"EASL Clinical Practice Guidelines on haemochromatosis. J Hepatol. 2022;77:479-502. https:\/\/doi.org\/10.1016\/j.jhep.2022.03.033.","DOI":"10.1016\/j.jhep.2022.03.033"},{"key":"2285_CR16","doi-asserted-by":"publisher","first-page":"18016","DOI":"10.1038\/nrdp.2018.16","volume":"4","author":"P Brissot","year":"2018","unstructured":"Brissot P, et al. Nat Rev Dis Prim. 2018;4:18016. Haemochromatosis.","journal-title":"Nat Rev Dis Prim"},{"key":"2285_CR17","unstructured":"Veripalvelulaki. 197\/2005. https:\/\/www.finlex.fi\/fi\/lainsaadanto\/2005\/197."},{"key":"2285_CR18","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-023-01528-0","author":"J Clancy","year":"2024","unstructured":"Clancy J, et al. Blood donor biobank as a resource in personalised biomedical genetic research. 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University of Eastern Finland. 2025."},{"key":"2285_CR24","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1111\/vox.13652","volume":"119","author":"P155 Forst\u00e9n","year":"2024","unstructured":"P155 Forst\u00e9n. Abstracts of the 38th international Congress of the ISBT, Barcelona, Spain, 23\u201327 June 2024. Vox Sang. 2024;119:7\u2013596.","journal-title":"Vox Sang"},{"key":"2285_CR25","unstructured":"Moriles KE, Zubair M, Azer SA. Alanine Aminotransferase (ALT) Test. in (2025)."},{"key":"2285_CR26","doi-asserted-by":"publisher","first-page":"e081926","DOI":"10.1136\/bmjopen-2023-081926","volume":"14","author":"MR Lucas","year":"2024","unstructured":"Lucas MR, Atkins JL, Pilling LC, Shearman JD, Melzer D. HFE genotypes, haemochromatosis diagnosis and clinical outcomes at age 80 years: a prospective cohort study in the UK biobank. 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Extended haplotype analysis in the HLA complex reveals an increased frequency of the HFE-C282Y mutation in individuals with multiple sclerosis. Hum Genet. 2004;114:573\u201380.","journal-title":"Hum Genet"},{"key":"2285_CR30","doi-asserted-by":"publisher","first-page":"478","DOI":"10.2337\/diab.40.4.478","volume":"40","author":"HA Erlich","year":"1991","unstructured":"Erlich HA, et al. Implication of specific DQB1 alleles in genetic susceptibility and resistance by identification of IDDM siblings with novel HLA-DQB1 allele and unusual DR2 and DR1 haplotypes. Diabetes. 1991;40:478\u201381.","journal-title":"Diabetes"},{"key":"2285_CR31","doi-asserted-by":"publisher","first-page":"1763","DOI":"10.2337\/db20-0038","volume":"69","author":"KM Simmons","year":"2020","unstructured":"Simmons KM, et al. Failed genetic protection: type 1 diabetes in the presence of HLA-DQB1*06:02. 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Public\u2019s attitudes on participation in a biobank for research: an Italian survey. BMC Med Ethics. 2014;15:81.","journal-title":"BMC Med Ethics"},{"key":"2285_CR35","unstructured":"CDC Tier 1 Genomics applications and their importance to public health. https:\/\/www.cdc.gov\/genomics\/implementation\/toolkit\/tier1.htm."},{"key":"2285_CR36","doi-asserted-by":"publisher","first-page":"1048","DOI":"10.1038\/s41431-022-01196-6","volume":"31","author":"L Leitsalu","year":"2023","unstructured":"Leitsalu L, et al. Lessons learned during the process of reporting individual genomic results to participants of a population-based biobank. Eur J Hum Genet. 2023;31:1048\u201356.","journal-title":"Eur J Hum Genet"}],"container-title":["BMC Medical Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-025-02285-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12920-025-02285-3","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-025-02285-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T15:18:07Z","timestamp":1781623087000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s12920-025-02285-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,17]]},"references-count":36,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["2285"],"URL":"https:\/\/doi.org\/10.1186\/s12920-025-02285-3","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-6927867\/v1","asserted-by":"object"}]},"ISSN":["1755-8794"],"issn-type":[{"value":"1755-8794","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,17]]},"assertion":[{"value":"19 June 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 November 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 December 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was conducted in accordance with the Declaration of Helsinki. Returning the\n                      HFE\n                      C282Y (+\/+) information to the biobank participants, was performed under the broad biobank consent and consent to receive health-relevant information. An informed consent was obtained from all the survey participants. In accordance to Finnish Biobank Act, all survey results were pseudonymized, hence the research team only handled pseudonymized information. The study was conducted in accordance with the informed consent obtained from the survey participants. A study specific ethical permit HUS\/1316\/2024 was obtained from the Helsinki University Hospital HUS Regional Committee on Medical Research Ethics. A biobank permit 002-2024 was obtained from the Finnish Red Cross Blood Service Biobank (https:\/\/www.veripalvelu.fi\/en\/biobank\/biobank-research\/). The use of the Biobank material is in accordance with the biobank consent and meets the requirements of the Finnish Biobank Act (688\/2012).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"197"}}