Genetic, lifestyle and environmental influences on health - a Finnish biobank recall study protocol (BioRecall)

IntroductionNoncommunicable diseases are the leading causes of premature mortality worldwide. Both genetic predispositions and environmental exposure affect disease risk. While biobanks have increased understanding of genetic predictors of these diseases, environmental influences are expected to have a greater impact on disease development. Individuals also create their own environments and lifestyles based on genetically regulated preferences, leading to gene- environment interactions that require large datasets to study. Biobanks may lack sufficient lifestyle and environmental data, which limits their use. We present a protocol for a biobank-recall study (BioRecall) to collect data on lifestyle and environmental exposure and combine these findings with genotypes, biological samples and clinical outcomes. Methods and analysisAll previously genotyped donors of the Central Finland Biobank diagnosed with type 2 diabetes and consenting to recalls will be invited to the pilot study. The preliminary feasibility assessment reveals that there are 1,386 suitable candidates. Participants will complete an electronic questionnaire on a secured online platform. The questionnaire includes validated questions on lifestyles, anthropometrics, weight loss history, health, symptoms, work characteristics, emotional states and residential environments. Postcode information will facilitate the addition of spatial environmental data. Genotype and related clinical data will be provided in the study in accordance with the Finnish Biobank Act and combined with questionnaire data. Ethics and open dataThe Human Sciences Ethics Committee of the University of Jyvaskyla delivered a favourable statement regarding the study protocol (1671/13.00.04.00/2023). Central Finland Biobank approved the research plan (no: BB24-0333-A01). The data collected will be returned to the Central Finland Biobank for research purposes with the participants consent. Permission for data usage can then be applied through standard protocols of the Fingenious(R) service (www.fingenious.fi). If successful, the study will be expanded to other donors and Finnish biobanks. Strengths and limitationsO_LILow-cost, scalable approach: A fully electronic consent and data collection concept with the potential to expand data collection to all genotyped Finnish individuals with biobank consent will be employed. C_LIO_LIExtensive dataset: The study will form an extensive dataset covering lifestyle and environmental exposure to investigate the prevention of non-communicable diseases. In the pilot phase, the sample size is limited, and only one biobank is included. C_LIO_LIAutomated feedback: As the survey progresses, respondents receive feedback on their own answers, primarily in relation to national lifestyle recommendations. Automated instant feedback may improve response rates. This feature could facilitate low-cost health promotion interventions. C_LIO_LIInnovative physical activity assessment: Novel questions on strength training and balance that complement WHOs Global Physical Activity Questionnaire (GPAQ) will enable the assessment of compliance with current physical activity recommendations. C_LIO_LILack of wearable data: The concept does not include data collection using wearables. C_LI