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BEHANDLING-God og treffsikker diagnostikk, behandling og rehabilitering

National training initiative to make better use of biobanks and health registry data

Alternative title: Nasjonalt treningsinitiativ for bedre utnyttelse av biobanker og helseregistre

Awarded: NOK 12.5 mill.

The high quality of Norwegian population biobanks and health registers facilitates excellent research opportunities. In this project, we have linked health information from two large, Norwegian health surveys with information from Norwegian health registers to better understand the risk of disease and disease trajectories. We have thoroughly studied the connection between heredity and environment by linking health data with genetic information from approx. 70,000 participants from the Health Survey in Trøndelag (HUNT), approx. 35,000 participants in the Tromsø survey. In order to utilize the vast information contained in these types of large-scale datasets in the best possible way, we need good and csutomized statistical methods and models. An important part of the project has therefore been to develop both more accurate methods and effective analysis pipelines. So far, we have looked in particular at statistical methods that can compensate for a high degree of relatedness and imbalance between the number of cases (diseased) and controls in so-called genome-wide association studies (GWAS). This has been a particular challenge for HUNT and in 2018 we were able to publish a new method for GWAS analyses, SAIGE (Zhou et al, Nature Genetics 2018), that could overcome these challenges. We have established a national network through a strategic distribution of scientific positions among the partner institutions for researchers in biostatistics and bioinformatics who have also been able to build their own, independent research careers. We have also arranged for hosting and professional exchange to help young researchers meet new environments and professional challenges in the best possible way. In line with the ever-increasing supply of health information and person-sensitive data, it is important to safeguard the participants' privacy and integrity in the best possible way. An important part of the project and the training has also been to build expertise around ethical issues related to research on biobanks and health registers and what is required to promote secure storage and handling of sensitive data.

Our first goal has been to better understand the biology within four important disease domains (cardiovascular disease; neurological disease; dermatological disease and cancer) and to use this information to provide new insights into biological mechanisms that have the potential to catalyze breakthroughs in prevention, treatment, and diagnosis of disease. Our second goal has been to develop new statistical methods specifically tailored to the needs presented by the ever increasing digital information stored in biobanks and health registries. Our third goal has been to train a cross-institutional team of outstanding postdoctoral fellows within the interface of applied and methodologically driven biostatistics and bioinformatics, genomics, medicine, epidemiology and ethics to meet the demands of an increasingly complex field of population based genomics and the new era of precision medicine. This project has made it possible to build national analytical expertise associated with the use of genetic data and other omics data from HUNT and the Tromsø survey , through the establishment of cross-border collaboration, both nationally and internationally. This formed the basis for a K.G. Jebsen Center for Genetic Epidemiology, established at NTNU in 2016. •The K.G. Jebsen Center for Genetic Epidemiology (NTNU), holds a strong analytical environment of bioinformaticians, biostatisticians and expertise in genetic statistics which has functioned as a hub for this work and contributed with expertise in data handling and analysis in a number of large-scale research projects data analysis and multi-omics integration have been central, e.g. as participants in larger international consortia. The establishment of HUNT Cloud has been a crucial resource in this work. Competence environments have also been established at the collaborative institutions, such as, for example. UiT and UiO/OUS. We have worked broadly with a number of disease categories which have provided new insight into various clinical diseases and the use of data from health registers. • The project has contributed to a clear increase in research output in the research environments involved What potential social effects can the project have in the future? • It is difficult to measure the social effect directly, but these are competence environments which will be central to the work with personalized medicine, and which will be able to contribute actively towards the new strategy where integration between population studies and clinical environments will be an important investment. • The Research Council has spent significant amounts on biobanks and partly also funding genetic analyzes directly. This will be able to get the desired "return" in future research through the expertise that has been developed and strengthened in this project.

We present an ambitious but realistic three year proposal to leverage existing digital biologic information from three of the largest prospective cohort studies in Norway, enriched with linkages to a comprehensive list of health registries, to better understand the biology for health and disease within diverse disease domains. We will build national methodological competence and capacity in the analysis of large-scale biobanks and health registries by focusing on relevant methodological developments. We will investigate complex ethical questions on the horizon, such as gene-based follow up of participants, in order to secure that the interest of large-scale biobank research and the participants are harmonious and compatible with an ethical commitment to the principle of reciprocity. We will expand our strong interdisciplinary research team within our three partner universities in Norway, and continue to collaborate with world leaders in biostatistics and bioinformatics. We will use this foundation to mentor and train six postdoctoral fellows at the multidisciplinary interface of applied and methodologically driven biostatistics and bioinformatics to meet the increasing complexity of the new era of precision medicine. Our proposal is in compliance with the overarching strategies of the partner universities to build strong statistical and bioinformatics expertise and capacity, and the proposal will be in synergy with our ongoing RCN and NIH supported efforts.

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BEHANDLING-God og treffsikker diagnostikk, behandling og rehabilitering