Evidence map›Paper›PMID 41408552›Full record

ArticleBMC medical genomics2025

Biobank participants' perspectives on receiving genetic risk information from a biobank - the case of haemochromatosis.

Jonna Clancy, Janina Forstén, Elina Koskinen, Mikko Arvas, Fredrik Åberg, Kimmo Pitkänen, Johanna Castrén

Abstract read
In one paragraph

Article in BMC medical genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Jonna ClancyFinnish Red Cross Blood Service Biobank, Härkälenkki 13, Vantaa, 01730, Finland. jonna.clancy@veripalvelu.fi.
Janina ForsténFinnish Red Cross Blood Service, Härkälenkki 13, Vantaa, 01730, Finland.
Elina KoskinenFinnish Red Cross Blood Service, Härkälenkki 13, Vantaa, 01730, Finland.
Mikko ArvasFinnish Red Cross Blood Service R&D, Biomedicum 1, Haartmaninkatu 8, Helsinki, 00290, Finland.
Fredrik ÅbergTransplantation and Liver Surgery, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Kimmo Pitkänen *Finnish Red Cross Blood Service Biobank, Härkälenkki 13, Vantaa, 01730, Finland.
Johanna Castrén *Finnish Red Cross Blood Service, Härkälenkki 13, Vantaa, 01730, Finland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 = 43,868, for HFE 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 HFE 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.

Indexed as

Biological Specimen BanksGenetic Predisposition to DiseaseHemochromatosisAdultAgedFemaleHemochromatosis ProteinHumansMaleMiddle AgedHemochromatosis ProteinHFE protein, humanActionable genotypeBiobankBlood donorGenetic informationHaemochromatosisHFE C282Y

Identifiers

PMID41408552
PMCPMC12720467

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.