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Technological readiness and implementation of genomic-driven precision medicine for complex diseases
From the, Department of Clinical Sciences, Lund University Diabetes Center, Lund University, Malmö, Sweden; Department of Nutrition, Harvard School of Public Health, MA, Boston, United States.
Department of Clinical Science and Education Södersjukhuset, Karolinska Institutet, Stockholm, Sweden.
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Department of Cardiology, Akademiska Sjukhuset, Uppsala, Sweden; George Institute for Global Health, NSW, Camperdown, Australia; Medical Sciences, Uppsala University, Uppsala, Sweden.
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2021 (English)In: Journal of Internal Medicine, ISSN 0954-6820, E-ISSN 1365-2796, Vol. 290, no 3, p. 602-620Article, review/survey (Refereed) Published
Abstract [en]

The fields of human genetics and genomics have generated considerable knowledge about the mechanistic basis of many diseases. Genomic approaches to diagnosis, prognostication, prevention and treatment – genomic-driven precision medicine (GDPM) – may help optimize medical practice. Here, we provide a comprehensive review of GDPM of complex diseases across major medical specialties. We focus on technological readiness: how rapidly a test can be implemented into health care. Although these areas of medicine are diverse, key similarities exist across almost all areas. Many medical areas have, within their standards of care, at least one GDPM test for a genetic variant of strong effect that aids the identification/diagnosis of a more homogeneous subset within a larger disease group or identifies a subset with different therapeutic requirements. However, for almost all complex diseases, the majority of patients do not carry established single-gene mutations with large effects. Thus, research is underway that seeks to determine the polygenic basis of many complex diseases. Nevertheless, most complex diseases are caused by the interplay of genetic, behavioural and environmental risk factors, which will likely necessitate models for prediction and diagnosis that incorporate genetic and non-genetic data.

Place, publisher, year, edition, pages
John Wiley & Sons, 2021. Vol. 290, no 3, p. 602-620
Keywords [en]
complex disease, genomics, precision diagnostics, precision medicine, precision prevention, precision treatment
National Category
Medical Genetics and Genomics
Identifiers
URN: urn:nbn:se:umu:diva-186173DOI: 10.1111/joim.13330ISI: 000669025500001PubMedID: 34213793Scopus ID: 2-s2.0-85109326832OAI: oai:DiVA.org:umu-186173DiVA, id: diva2:1580726
Funder
EU, Horizon 2020, 2018-05619Swedish Research Council, 2018-02837, 2014-03352, 2009-1039, 2018-03307NIH (National Institute of Health), MH077139, MH1095320Swedish Cancer SocietyKnut and Alice Wallenberg FoundationSwedish Heart Lung Foundation, 20160872Swedish Foundation for Strategic Research , 15-0067Novo NordiskSwedish Rheumatism AssociationAvailable from: 2021-07-15 Created: 2021-07-15 Last updated: 2025-02-10Bibliographically approved

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Melin, Beatrice S.

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