Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Advances in Molecular PathologyAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- 10 Years of GWAS Discovery: Biology, Function, and Translation.Am J Hum Genet. 2017; 101: 5-22
- Genome-wide association studies.Nat Rev Methods Primers. 2021; 1: 1-21
- SPOT, EMBL-EBI, NHGRI. GWAS Catalog.(Available at:) (Accessed March 30, 2022)
- Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.Nat Genet. 2018; 50: 1219-1224
- Developing and evaluating polygenic risk prediction models for stratified disease prevention.Nat Rev Genet. 2016; 17: 392-406
- The personal and clinical utility of polygenic risk scores.Nat Rev Genet. 2018; 19: 581-590
- Polygenic prediction via Bayesian regression and continuous shrinkage priors.Nat Commun. 2019; 10: 1776https://doi.org/10.1038/s41467-019-09718-5
- PRSice-2: Polygenic Risk Score software for biobank-scale data.Gigascience. 2019; 8https://doi.org/10.1093/gigascience/giz082
- Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores.Am J Hum Genet. 2015; 97: 576-592https://doi.org/10.1016/j.ajhg.2015.09.001
- A roadmap to increase diversity in genomic studies.Nat Med. 2022; 28: 243-250https://doi.org/10.1038/s41591-021-01672-4
- Publisher Correction: Clinical use of current polygenic risk scores may exacerbate health disparities.Nat Genet. 2021; 53: 763https://doi.org/10.1038/s41588-021-00797-z
- Predictive Accuracy of a Polygenic Risk Score–Enhanced Prediction Model vs a Clinical Risk Score for Coronary Artery Disease.JAMA. 2020; 323: 636https://doi.org/10.1001/jama.2019.22241
- Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults: Implications for Primary Prevention.J Am Coll Cardiol. 2018; 72: 1883-1893https://doi.org/10.1016/j.jacc.2018.07.079
- Incorporating a Genetic Risk Score Into Coronary Heart Disease Risk Estimates: Effect on Low-Density Lipoprotein Cholesterol Levels (the MI-GENES Clinical Trial).Circulation. 2016; 133: 1181-1188https://doi.org/10.1161/CIRCULATIONAHA.115.020109
- Genomic prediction of coronary heart disease.Eur Heart J. 2016; 37: 3267-3278https://doi.org/10.1093/eurheartj/ehw450
- Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk.J Natl Cancer Inst. 2021; 113: 329-337https://doi.org/10.1093/jnci/djaa056
- Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers.J Natl Cancer Inst. 2017; 109https://doi.org/10.1093/jnci/djw302
- Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.Am J Hum Genet. 2019; 104: 21-34https://doi.org/10.1016/j.ajhg.2018.11.002
- Addition of a polygenic risk score, mammographic density, and endogenous hormones to existing breast cancer risk prediction models: A nested case-control study.Plos Med. 2018; 15: e1002644https://doi.org/10.1371/journal.pmed.1002644
- Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non- breast cancer families.J Med Genet. 2019; 56: 581-589https://doi.org/10.1136/jmedgenet-2019-106072
- Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.Nat Commun. 2020; 11: 3635https://doi.org/10.1038/s41467-020-17374-3
- The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review.Hum Genet Published Online. 2022; https://doi.org/10.1007/s00439-022-02452-x
- The need for polygenic score reporting standards in evidence-based practice: lipid genetics use case.Curr Opin Lipidol. 2021; 32: 89-95https://doi.org/10.1097/MOL.0000000000000733
- Improving reporting standards for polygenic scores in risk prediction studies.Nature. 2021; 591: 211-219https://doi.org/10.1038/s41586-021-03243-6
- Development of a clinical polygenic risk score assay and reporting workflow.Nat Med. 2022; (Published online)https://doi.org/10.1038/s41591-022-01767-6
- BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors.Genet Med. 2019; 21: 1708-1718https://doi.org/10.1038/s41436-018-0406-9
- CanRisk Tool-A Web Interface for the Prediction of Breast and Ovarian Cancer Risk and the Likelihood of Carrying Genetic Pathogenic Variants.Cancer Epidemiol Biomarkers Prev. 2021; 30: 469-473https://doi.org/10.1158/1055-9965.EPI-20-1319
- RiskScore. Myriad MyRisk.(Published February 19, 2022. Available at:) (Accessed March 31, 2022)
- How 23andMe predicted my likelihood of developing the “disease of kings.” 23andMe Blog.(Published July 14, 2021. Available at:) (Accessed March 22, 2022)
- welcome to eMerge > Collaborate.(Available at:) (Accessed April 17, 2022)
- Polygenic risk scores in the clinic: Translating risk into action.HGG Adv. 2021; 2: 100047https://doi.org/10.1016/j.xhgg.2021.100047
- ACS Breast Cancer Screening Guidelines.(Available at:) (Accessed May 5, 2022)
- Design and user experience testing of a polygenic score report: a qualitative study of prospective users.BMC Med Genomics. 2021; 14: 238https://doi.org/10.1186/s12920-021-01056-0
- The effects of communicating uncertainty on public trust in facts and numbers.Proc Natl Acad Sci U S A. 2020; 117: 7672-7683https://doi.org/10.1073/pnas.1913678117
- Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps.Nat Med. 2021; 27: 1876-1884https://doi.org/10.1038/s41591-021-01549-6
- Effect of Disclosing Genetic Risk for Coronary Heart Disease on Information Seeking and Sharing: The MI-GENES Study (Myocardial Infarction Genes).Circ Cardiovasc Genet. 2017; 10https://doi.org/10.1161/CIRCGENETICS.116.001613
- Communicating polygenic and nongenetic risk for atherosclerotic cardiovascular disease - An observational follow-up study.bioRxiv. 2020; https://doi.org/10.1101/2020.09.18.20197137
- Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genet Med. 2021; 23: 1416-1423
- Polygenic risk scores in the clinic: new perspectives needed on familiar ethical issues.Genome Med. 2021; 13: 14
Article info
Publication history
Published online: September 28, 2022
Identification
Copyright
© 2022 Elsevier Inc. All rights reserved.