Biobank participants’ perspectives on receiving genetic risk information from a biobank – the case of haemochromatosis

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.