Technological readiness and implementation of genomic-driven precision medicine for complex diseases
(2021) In Journal of Internal Medicine 290(3). p.602-620- 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... (More)
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.
(Less)
- author
- organization
-
- Genetic and Molecular Epidemiology (research group)
- EpiHealth: Epidemiology for Health
- EXODIAB: Excellence of Diabetes Research in Sweden
- WCMM-Wallenberg Centre for Molecular Medicine
- Heart Failure and Mechanical Support (research group)
- Cardiovascular Epigenetics (research group)
- Cardiology
- Molecular Epidemiology and Cardiology (research group)
- Diabetic Complications (research group)
- Diabetes - Cardiovascular Disease (research group)
- publishing date
- 2021
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- complex disease, genomics, precision diagnostics, precision medicine, precision prevention, precision treatment
- in
- Journal of Internal Medicine
- volume
- 290
- issue
- 3
- pages
- 602 - 620
- publisher
- Wiley-Blackwell
- external identifiers
-
- pmid:34213793
- scopus:85109326832
- ISSN
- 0954-6820
- DOI
- 10.1111/joim.13330
- language
- English
- LU publication?
- yes
- id
- 62a7746f-12ea-495e-bca4-025ea47a060b
- date added to LUP
- 2021-08-12 14:10:20
- date last changed
- 2024-11-03 04:41:26
@article{62a7746f-12ea-495e-bca4-025ea47a060b, abstract = {{<p>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.</p>}}, author = {{Franks, P. W. and Melén, E. and Friedman, M. and Sundström, J. and Kockum, I. and Klareskog, L. and Almqvist, C. and Bergen, S. E. and Czene, K. and Hägg, S. and Hall, P. and Johnell, K. and Malarstig, A. and Catrina, A. and Hagström, H. and Benson, M. and Smith, J. Gustav and Gomez, M. F. and Orho-Melander, M. and Jacobsson, B. and Halfvarson, J. and Repsilber, D. and Oresic, M. and Jern, C. and Melin, B. and Ohlsson, C. and Fall, T. and Rönnblom, L. and Wadelius, M. and Nordmark, G. and Johansson, Å and Rosenquist, R. and Sullivan, P. F.}}, issn = {{0954-6820}}, keywords = {{complex disease; genomics; precision diagnostics; precision medicine; precision prevention; precision treatment}}, language = {{eng}}, number = {{3}}, pages = {{602--620}}, publisher = {{Wiley-Blackwell}}, series = {{Journal of Internal Medicine}}, title = {{Technological readiness and implementation of genomic-driven precision medicine for complex diseases}}, url = {{http://dx.doi.org/10.1111/joim.13330}}, doi = {{10.1111/joim.13330}}, volume = {{290}}, year = {{2021}}, }