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

Franks, P. W. LU ; Melén, E. ; Friedman, M. ; Sundström, J. ; Kockum, I. ; Klareskog, L. ; Almqvist, C. ; Bergen, S. E. ; Czene, K. and Hägg, S. , et al. (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.

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organization
publishing date
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
  • scopus:85109326832
  • pmid:34213793
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
2024-03-08 15:22:27
@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}},
}