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Precision medicine in complex diseases - : Molecular subgrouping for improved prediction and treatment stratification

Johansson, Åsa LU ; Andreassen, Ole A ; Brunak, Søren ; Franks, Paul W LU ; Hedman, Harald ; Loos, Ruth J F ; Meder, Benjamin ; Melén, Erik ; Wheelock, Craig E and Jacobsson, Bo (2023) In Journal of Internal Medicine 294(4). p.378-396
Abstract

Complex diseases are caused by a combination of genetic, lifestyle, and environmental factors and comprise common noncommunicable diseases, including allergies, cardiovascular disease, and psychiatric and metabolic disorders. More than 25% of Europeans suffer from a complex disease, and together these diseases account for 70% of all deaths. The use of genomic, molecular, or imaging data to develop accurate diagnostic tools for treatment recommendations and preventive strategies, and for disease prognosis and prediction, is an important step toward precision medicine. However, for complex diseases, precision medicine is associated with several challenges. There is a significant heterogeneity between patients of a specific disease-both... (More)

Complex diseases are caused by a combination of genetic, lifestyle, and environmental factors and comprise common noncommunicable diseases, including allergies, cardiovascular disease, and psychiatric and metabolic disorders. More than 25% of Europeans suffer from a complex disease, and together these diseases account for 70% of all deaths. The use of genomic, molecular, or imaging data to develop accurate diagnostic tools for treatment recommendations and preventive strategies, and for disease prognosis and prediction, is an important step toward precision medicine. However, for complex diseases, precision medicine is associated with several challenges. There is a significant heterogeneity between patients of a specific disease-both with regards to symptoms and underlying causal mechanisms-and the number of underlying genetic and nongenetic risk factors is often high. Here, we summarize precision medicine approaches for complex diseases and highlight the current breakthroughs as well as the challenges. We conclude that genomic-based precision medicine has been used mainly for patients with highly penetrant monogenic disease forms, such as cardiomyopathies. However, for most complex diseases-including psychiatric disorders and allergies-available polygenic risk scores are more probabilistic than deterministic and have not yet been validated for clinical utility. However, subclassifying patients of a specific disease into discrete homogenous subtypes based on molecular or phenotypic data is a promising strategy for improving diagnosis, prediction, treatment, prevention, and prognosis. The availability of high-throughput molecular technologies, together with large collections of health data and novel data-driven approaches, offers promise toward improved individual health through precision medicine.

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author
; ; ; ; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
complex diseases, genetic variations, genomic medicine, GWAS, Molecular profiling, multi omics, polygenic risk score (PRS), precision medicine
in
Journal of Internal Medicine
volume
294
issue
4
pages
19 pages
publisher
Wiley-Blackwell
external identifiers
  • scopus:85153517541
  • pmid:37093654
ISSN
1365-2796
DOI
10.1111/joim.13640
language
English
LU publication?
yes
additional info
© 2023 The Authors. Journal of Internal Medicine published by John Wiley & Sons Ltd on behalf of Association for Publication of The Journal of Internal Medicine.
id
385d682b-1ef2-4f95-8ef1-c57023fc330f
date added to LUP
2023-04-27 11:00:17
date last changed
2024-06-15 02:14:07
@article{385d682b-1ef2-4f95-8ef1-c57023fc330f,
  abstract     = {{<p>Complex diseases are caused by a combination of genetic, lifestyle, and environmental factors and comprise common noncommunicable diseases, including allergies, cardiovascular disease, and psychiatric and metabolic disorders. More than 25% of Europeans suffer from a complex disease, and together these diseases account for 70% of all deaths. The use of genomic, molecular, or imaging data to develop accurate diagnostic tools for treatment recommendations and preventive strategies, and for disease prognosis and prediction, is an important step toward precision medicine. However, for complex diseases, precision medicine is associated with several challenges. There is a significant heterogeneity between patients of a specific disease-both with regards to symptoms and underlying causal mechanisms-and the number of underlying genetic and nongenetic risk factors is often high. Here, we summarize precision medicine approaches for complex diseases and highlight the current breakthroughs as well as the challenges. We conclude that genomic-based precision medicine has been used mainly for patients with highly penetrant monogenic disease forms, such as cardiomyopathies. However, for most complex diseases-including psychiatric disorders and allergies-available polygenic risk scores are more probabilistic than deterministic and have not yet been validated for clinical utility. However, subclassifying patients of a specific disease into discrete homogenous subtypes based on molecular or phenotypic data is a promising strategy for improving diagnosis, prediction, treatment, prevention, and prognosis. The availability of high-throughput molecular technologies, together with large collections of health data and novel data-driven approaches, offers promise toward improved individual health through precision medicine.</p>}},
  author       = {{Johansson, Åsa and Andreassen, Ole A and Brunak, Søren and Franks, Paul W and Hedman, Harald and Loos, Ruth J F and Meder, Benjamin and Melén, Erik and Wheelock, Craig E and Jacobsson, Bo}},
  issn         = {{1365-2796}},
  keywords     = {{complex diseases; genetic variations; genomic medicine; GWAS; Molecular profiling; multi omics; polygenic risk score (PRS); precision medicine}},
  language     = {{eng}},
  month        = {{04}},
  number       = {{4}},
  pages        = {{378--396}},
  publisher    = {{Wiley-Blackwell}},
  series       = {{Journal of Internal Medicine}},
  title        = {{Precision medicine in complex diseases - : Molecular subgrouping for improved prediction and treatment stratification}},
  url          = {{http://dx.doi.org/10.1111/joim.13640}},
  doi          = {{10.1111/joim.13640}},
  volume       = {{294}},
  year         = {{2023}},
}