Technological readiness and implementation of genomic‐driven precision medicine for complex diseases

• Published in: Journal of internal medicine Vol. 290; no. 3; pp. 602 - 620
• Main Authors: Franks, P. W., Melén, E., Friedman, M., Sundström, J., Kockum, I., Klareskog, L., Almqvist, C., Bergen, S. E., Czene, K., Hägg, S., Hall, P., Johnell, K., Malarstig, A., Catrina, A., Hagström, H., Benson, M., Gustav Smith, J., Gomez, M. F, Orho‐Melander, M., Jacobsson, B., Halfvarson, J., Repsilber, D., Oresic, M., Jern, C., Melin, B., Ohlsson, C., Fall, T., Rönnblom, L., Wadelius, M., Nordmark, G., Johansson, Å., Rosenquist, R., Sullivan, P. F.
• Format: Journal Article
• Language: English
• Published: England Blackwell Publishing Ltd 2021
• Subjects: alzheimers-disease; Basic Medicine; childhood asthma; Clinical Medicine; complex disease; Delivery of Health Care; Diagnosis; Disease; Diseases; Endocrinology and Diabetes; Endokrinologi och diabetes; Environmental risk; fatty-liver-disease; General & Internal Medicine; genetic architecture; Genetic diversity; Genetic variance; Genetics; Genomics; Humans; Klinisk medicin; ldl receptor; Medical and Health Sciences; Medical Genetics; Medicin och hälsovetenskap; Medicine; Medicinsk genetik; Medicinska och farmaceutiska grundvetenskaper; Mutation; polygenic risk; precision diagnostics; Precision Medicine; precision prevention; precision treatment; rheumatoid-arthritis; Risk analysis; Risk factors; risk loci; Risk taking; t-cells; wide association; precision prevention; precision diagnostics; complex disease; genomics; precision medicine; precision treatment
• ISSN: 0954-6820; 1365-2796; 1365-2796
• DOI: 10.1111/joim.13330

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.