De huidige evidentie ondersteunt behoedzame en contextafhankelijke inzet van PRS. De
incrementele voorspellende waarde verschilt per populatie en per ancestrale achtergrond.
Integratie in de zorg vraagt om transparante communicatie en consequente toepassing van
rapportagestandaarden.4,5,6,9,10
-
NHG. NHG Standaard Cardiovasculair risicomanagement. NHG. Latest version.
https://richtlijnen.nhg.org/standaarden/cardiovasculair-risicomanagement.
-
Richtlijnendatabase. Cardiovasculair risicomanagement CVRM. Richtlijnendatabase. 2024.
https://richtlijnendatabase.nl/richtlijn/cardiovasculair_risicomanagement_cvrm.
-
Visseren FLJ et al. ESC Guidelines on cardiovascular disease prevention. European Heart Journal.
2021.
https://doi.org/10.1093/eurheartj/ehab484.
-
American Heart Association. Scientific statement on polygenic risk scores for cardiovascular disease.
Circulation. 2022.
https://doi.org/10.1161/CIR.0000000000001077.
-
Wand H et al. Improving reporting standards for polygenic scores. Nature. 2021.
https://doi.org/10.1038/s41586-021-03243-6.
-
Hao L et al. Development of a clinical polygenic risk score assay and reporting workflow.
Nature Medicine. 2022.
https://doi.org/10.1038/s41591-022-01767-6.
-
Khera AV et al. Genome wide polygenic scores for common diseases identify individuals with risk
equivalent to monogenic mutations. Nature Genetics. 2018.
https://doi.org/10.1038/s41588-018-0183-z.
-
Mosley JD et al. Predictive accuracy of a polygenic risk score compared with a clinical risk
score for incident coronary heart disease. JAMA. 2020.
https://doi.org/10.1001/jama.2020.0975.
-
Patel AP et al. Multi ancestry polygenic risk score improves risk stratification for coronary
heart disease. Nature Medicine. 2023.
https://doi.org/10.1038/s41591-023-02429-x.
-
Samani NJ et al. Polygenic risk score adds to a clinical risk score in prediction of
cardiovascular disease in a clinical setting. European Heart Journal. 2024.
https://doi.org/10.1093/eurheartj/ehae342.