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

Summary, in English

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.

• Author: P. W. Franks; E. Melén; M. Friedman; J. Sundström; I. Kockum; L. Klareskog; C. Almqvist; S. E. Bergen; K. Czene; S. Hägg; P. Hall; K. Johnell; A. Malarstig; A. Catrina; H. Hagström; M. Benson; J. Gustav Smith; M. F. Gomez; M. Orho-Melander; B. Jacobsson; J. Halfvarson; D. Repsilber; M. Oresic; C. Jern; B. Melin; C. Ohlsson; T. Fall; L. Rönnblom; M. Wadelius; G. Nordmark; Å Johansson; R. Rosenquist; P. F. Sullivan
• Department/s: Genetic and Molecular Epidemiology; EpiHealth: Epidemiology for Health; EXODIAB: Excellence of Diabetes Research in Sweden; WCMM-Wallenberg Centre for Molecular Medicine; Heart Failure and Mechanical Support; Cardiovascular Epigenetics; Cardiology; Molecular Epidemiology and Cardiology; Diabetic Complications; Diabetes - Cardiovascular Disease
• Publishing year: 2021
• Language: English
• Pages: 602-620
• Publication/Series: Journal of Internal Medicine
• Volume: 290
• Issue: 3
• Links: http://dx.doi.org/10.1111/joim.13330
• Document type: Journal article review
• Publisher: Wiley-Blackwell
• Topic: Medical Genetics; Endocrinology and Diabetes
• Keywords: complex disease; genomics; precision diagnostics; precision medicine; precision prevention; precision treatment
• Status: Published
• Research group: Genetic and Molecular Epidemiology; Heart Failure and Mechanical Support; Cardiovascular Epigenetics; Molecular Epidemiology and Cardiology; Diabetic Complications; Diabetes - Cardiovascular Disease
• ISBN/ISSN/Other: ISSN: 0954-6820