Evidence map›Paper›PMID 37093654›Full record

ReviewJournal of internal medicine2023

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

Åsa Johansson, Ole A Andreassen, Søren Brunak, Paul W Franks, Harald Hedman, Ruth J F Loos, Benjamin Meder, Erik Melén, Craig E Wheelock, Bo Jacobsson

Open access · hybridAbstract readReview
In one paragraph

Review in Journal of internal medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed, 2 pooled it
22.2field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

42 citing papers in PubMed, 2 syntheses or guidelines pooled it, 71 citations in OpenAlex.

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  20. Utilising genomic association data for causal inference in anorexia nervosa.Mammalian genome : official journal of the International Mammalian Genome Society · 2025
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 9 institutions in 5 countries.

Åsa JohanssonDepartment of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.ORCID 0000-0002-2915-4498
Ole A AndreassenNORMENT Centre, Division of Mental Health and Addiction, Oslo University Hospital & Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Søren BrunakNovo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID 0000-0003-0316-5866
Paul W FranksGenetic and Molecular Epidemiology Unit, Lund University Diabetes Centre, Department of Clinical Science, Lund University, Lund, Sweden.ORCID 0000-0002-0520-7604
Harald HedmanDepartment of Medical Biosciences, Umeå University, Umeå, Sweden.
Ruth J F LoosNovo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID 0000-0002-8532-5087
Benjamin MederPrecision Digital Health, Cardiogenetics Center Heidelberg, Department of Cardiology, University of Heidelberg, Heidelberg, Germany.
Erik MelénDepartment of Clinical Sciences and Education, Södersjukhuset, Karolinska Institutet, Stockholm, Sweden.
Craig E WheelockUnit of Integrative Metabolomics, Karolinska Institutet, Institute of Environmental Medicine, Stockholm, Sweden.
Bo JacobssonDepartment of Obstetrics and Gynecology, Institute of Clinical Science, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
University of Copenhagen · DKHeidelberg University · DEKarolinska Institutet · SEKarolinska University Hospital · SELund University · SENorwegian Institute of Public Health · NOOslo University Hospital · NOUmeå University · SEUppsala University · SE

Funding

Resilience to obesity in carriers of monogenic obesity mutations - a study on the underlying mechanismsR01DK124097 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI LOOS, RUTH JF · 2020 to 2023
$2.9M
Study of coding variants in human obesity and their functional characterization using human iPSC-derived cellular modelsR01DK110113 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI LOOS, RUTH JF · 2016 to 2020
$2.8M
NIDDK NIH HHS R01 DK110113NIDDK NIH HHS R01 DK124097NIH HHS R01DK110113NIH HHS R01DK124097
6 · The paper itself

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 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.

Indexed as

Mental DisordersPrecision MedicineGenomicsHumansRisk Factorscomplex diseasesgenetic variationsgenomic medicineGWASmolecular profilingmulti omicspolygenic risk score (PRS)precision medicine

Identifiers

PMID37093654
PMCPMC10523928
OpenAlexW4366819509

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.