Journal
JOURNAL OF INTERNAL MEDICINE
Volume 290, Issue 3, Pages 602-620Publisher
WILEY
DOI: 10.1111/joim.13330
Keywords
complex disease; genomics; precision diagnostics; precision medicine; precision prevention; precision treatment
Categories
Funding
- SciLifeLab
- Swedish Research Council (Vetenskapsradet) [D0886501]
- US National Institute of Mental Health [MH077139, MH1095320]
- European Union [610307, 733161, 825843]
- Swedish Cancer Society
- Swedish Research Council [2018-02837, 2014-03352, 2009-1039, 2018-03307]
- Knut and Alice Wallenberg Foundation
- Karolinska Institutet, Karolinska University Hospital
- Radiumhemmets Forskningsfonder
- European Research Council [CoG-2015_681742_NASCENT]
- Swedish Heart-Lung Foundation [20160872]
- Swedish Foundation for Strategic Research (IRC Center)
- Novo Nordisk Foundation
- ALF
- Strategic Research Area Epidemiology at Karolinska Institutet
- Swedish Rheumatism Association
- Vth 80-year Foundation
- Swedish Society of Medicine
- Clinical Research Support (Avtal om Lakarutbildning och Forskning)
- Swedish government
- county councils
- ALF-agreement
- Swedish Foundation for Strategic Research [15-0067]
- IMI2 Joint Undertaking [115974]
- European Federation of Pharmaceutical Industries and Associations with JDRF
- H2020 Program ERA PerMed JTC 2018 Call (VR) [2018-05619]
- H2020 Societal Challenges Programme [825843] Funding Source: H2020 Societal Challenges Programme
- Swedish Research Council [2014-03352, 2018-02837] Funding Source: Swedish Research Council
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Genomic approaches to diagnosis, prognostication, prevention and treatment may optimize medical practice. Research is underway to determine the polygenic basis of many complex diseases, which will likely necessitate models for prediction and diagnosis that incorporate genetic and non-genetic data.
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.
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