Umeå universitets logga

umu.sePublikationer
Ändra sökning
RefereraExporteraLänk till posten
Permanent länk

Direktlänk
Referera
Referensformat
  • apa
  • ieee
  • vancouver
  • Annat format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annat språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf
Technological readiness and implementation of genomic-driven precision medicine for complex diseases
From the, Department of Clinical Sciences, Lund University Diabetes Center, Lund University, Malmö, Sweden; Department of Nutrition, Harvard School of Public Health, MA, Boston, United States.
Department of Clinical Science and Education Södersjukhuset, Karolinska Institutet, Stockholm, Sweden.
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Department of Cardiology, Akademiska Sjukhuset, Uppsala, Sweden; George Institute for Global Health, NSW, Camperdown, Australia; Medical Sciences, Uppsala University, Uppsala, Sweden.
Visa övriga samt affilieringar
2021 (Engelska)Ingår i: Journal of Internal Medicine, ISSN 0954-6820, E-ISSN 1365-2796, Vol. 290, nr 3, s. 602-620Artikel, forskningsöversikt (Refereegranskat) Published
Abstract [en]

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.

Ort, förlag, år, upplaga, sidor
John Wiley & Sons, 2021. Vol. 290, nr 3, s. 602-620
Nyckelord [en]
complex disease, genomics, precision diagnostics, precision medicine, precision prevention, precision treatment
Nationell ämneskategori
Medicinsk genetik och genomik
Identifikatorer
URN: urn:nbn:se:umu:diva-186173DOI: 10.1111/joim.13330ISI: 000669025500001PubMedID: 34213793Scopus ID: 2-s2.0-85109326832OAI: oai:DiVA.org:umu-186173DiVA, id: diva2:1580726
Forskningsfinansiär
EU, Horisont 2020, 2018-05619Vetenskapsrådet, 2018-02837, 2014-03352, 2009-1039, 2018-03307NIH (National Institute of Health), MH077139, MH1095320CancerfondenKnut och Alice Wallenbergs StiftelseHjärt-Lungfonden, 20160872Stiftelsen för strategisk forskning (SSF), 15-0067Novo NordiskReumatikerförbundetTillgänglig från: 2021-07-15 Skapad: 2021-07-15 Senast uppdaterad: 2025-02-10Bibliografiskt granskad

Open Access i DiVA

fulltext(823 kB)311 nedladdningar
Filinformation
Filnamn FULLTEXT01.pdfFilstorlek 823 kBChecksumma SHA-512
e3e101df379ddfcd7c7503cc1f6a725b950295dcbbcb3f57fb3a9f05e8b71426d1e418f47b51d4f9ebb2af6851a26e3c1eeeb85f1479f8671af20b4c40e1fd4e
Typ fulltextMimetyp application/pdf

Övriga länkar

Förlagets fulltextPubMedScopus

Person

Melin, Beatrice S.

Sök vidare i DiVA

Av författaren/redaktören
Melin, Beatrice S.
Av organisationen
Onkologi
I samma tidskrift
Journal of Internal Medicine
Medicinsk genetik och genomik

Sök vidare utanför DiVA

GoogleGoogle Scholar
Totalt: 317 nedladdningar
Antalet nedladdningar är summan av nedladdningar för alla fulltexter. Det kan inkludera t.ex tidigare versioner som nu inte längre är tillgängliga.

doi
pubmed
urn-nbn

Altmetricpoäng

doi
pubmed
urn-nbn
Totalt: 350 träffar
RefereraExporteraLänk till posten
Permanent länk

Direktlänk
Referera
Referensformat
  • apa
  • ieee
  • vancouver
  • Annat format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annat språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf