Technological readiness and implementation of genomic-driven precision medicine for complex diseases
Year: 2024
Type: article
Abstract: 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.
Source: UTUPub (University of Turku)
DOI: 10.17615/2h1m-zm81
Authors: Melin B, Hagström H, Rönnblom L, Catrina A, Johnell K, Benson M, Repsilber D, Hägg S, Jern C, Malarstig A, Bergen S.E, Fall T, Johansson Å, Gustav Smith J, Orho-Melander M, Nordmark G, Kockum I, Friedman M, Melén E, Halfvarson J, Hall P, Gomez M.F, Klareskog L, Rosenquist R, Jacobsson B, Czene K, Sundström J, Franks P.W, Almqvist C, Sullivan P.F, Oresic M, Wadelius M, Ohlsson C
Institution: University of North Carolina at Chapel Hill
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
Funders: European Federation of Pharmaceutical Industries and Associations, European Commission, Stiftelsen för Strategisk Forskning, Cancerfonden, Hjärt-Lungfonden, Karolinska Institutet, Knut och Alice Wallenbergs Stiftelse, Novo Nordisk, Vetenskapsrådet, Uppsala Universitet, Radiumhemmets Forskningsfonder, Svenska Läkaresällskapet, Stiftelsen Konung Gustaf V:s 80-årsfond, Reumatikerförbundet, Science for Life Laboratory, Horizon 2020 Framework Programme, National Institute of Mental Health
Awards: NFAT (Nuclear Factor of Activated T-cells) as a novel target for the treatment of atherosclerosis and vascular dysfunction in diabetes, G2004031785, G2017605187, G2026899004, G263730981, Multiple manifestations of genetic and non-genetic factors in Multiple Sclerosis disentangled with a multi-omics approach to accelerate personalised medicine, G279478619, G3297397947, Strategic initiative in pharmacogenetics: from discovery to implementation, G4280428318, G434337789, PERMEABLE - PERsonalized MEdicine Approach for asthma and allergy Biologicals seLEction, MONTENIGT2012, G4937468798, G5117813090, Biomarker Enterprise to Attack DKD - Sofia ref.: 115974, G5368096355, G55242246, G5981938709, A European standardization framework for data integration and data-driven in silico models for personalized medicine, G6446969412, G712881263, G7561978802, Novel molecular mechanisms underlying diabetic complications, G8163728846, G8218456548, G8616623527, G974015374
OpenAlex ID: W4400050195