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Old and new challenges regarding comparable and viable data sharing in population-scale genomic research

European Journal of Human Genetics (2023)Cite this article

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Large-scale studies derived from genomic and health data repositories are at the forefront of personalized medicine. The US NIH Cancer Genome Atlas Project, for example, has generated maps of genomic changes in a large variety of cancer types and cases to help improve diagnosis and treatment based on the large-scale genome sequencing of patients. Another recent example is polygenic risk scoring (PRS), which, despite criticism that it should be carefully evaluated, will be used by the NHS for risk assessment as part of clinical decision-making, including access to screening. PRS, too, has become more widely available due to the development of population-level genetic studies, particularly genome-wide association studies (GWAS). Both cancer genomics and PRS demonstrate the need for and challenges involved in comparable and viable data sharing in population-scale genomic research. Here, we focus on genomic repositories sharing data among themselves, with researchers, and with donors. Despite the rapid expansion of large-scale national genomic repositories and efforts to create diverse datasets, genomic diversity, which is crucial in comparative research, is not easily attainable. Many barriers to sharing genomic data have already been identified, including the interrelated challenges of comparability, confidentiality, and viability.

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Funding

Funding

AR and JM are grateful for the funding provided by the JSPS – ISF Joint Program, grant 62/22, “Biobanks for genomic medicine in Israel and Japan: An analysis of ethics and policy”.

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Authors and Affiliations

  1. Department of Sociology and Anthropology, Ben-Gurion University of the Negev, Beer-Sheba, Israel

    Aviad Raz & Yael Hashiloni-Dolev

  2. Uehiro Research Division for iPS Cell Ethics, Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan

    Jusaku Minari, Kayo Takashima & Hristina Gaydarska

  3. The Ethox Centre and Wellcome Centre for Ethics and Humanities, Nuffield Department of Population Health, University of Oxford, Oxford, UK

    Ruth Horn

  4. Ethics of Medicine, Faculty of Medicine, University of Augsburg, Augsburg, Germany

    Ruth Horn

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  1. Aviad Raz
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  2. Jusaku Minari
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  3. Kayo Takashima
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  4. Hristina Gaydarska
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  5. Yael Hashiloni-Dolev
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  6. Ruth Horn
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Contributions

Original draft preparation: AR; conceptualization: JM and AR; review and editing of the draft: AR, JM, KT, HG, YH, RH; All authors have read and agreed to the published version of the manuscript.

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Correspondence to Aviad Raz.

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The authors declare no competing interests.

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Raz, A., Minari, J., Takashima, K. et al. Old and new challenges regarding comparable and viable data sharing in population-scale genomic research. Eur J Hum Genet (2023). https://doi.org/10.1038/s41431-023-01355-3

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