Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps

Nature Medicine, 2021 - nature.com
Polygenic risk scores (PRSs) aggregate the many small effects of alleles across the human
genome to estimate the risk of a disease or disease-related trait for an individual. The …

Challenges and opportunities for developing more generalizable polygenic risk scores

Y Wang, K Tsuo, M Kanai, BM Neale… - Annual review of …, 2022 - annualreviews.org
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …

[HTML][HTML] Development of a clinical polygenic risk score assay and reporting workflow

L Hao, P Kraft, GF Berriz, ED Hynes, C Koch… - Nature medicine, 2022 - nature.com
Implementation of polygenic risk scores (PRS) may improve disease prevention and
management but poses several challenges: the construction of clinically valid assays …

New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications

OA Andreassen, GFL Hindley, O Frei… - World …, 2023 - Wiley Online Library
Psychiatric genetics has made substantial progress in the last decade, providing new
insights into the genetic etiology of psychiatric disorders, and paving the way for precision …

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

Å Johansson, OA Andreassen, S Brunak… - Journal of internal …, 2023 - Wiley Online Library
Complex diseases are caused by a combination of genetic, lifestyle, and environmental
factors and comprise common noncommunicable diseases, including allergies …

[HTML][HTML] Patient and provider perspectives on polygenic risk scores: implications for clinical reporting and utilization

ACF Lewis, EF Perez, AER Prince, HR Flaxman… - Genome Medicine, 2022 - Springer
Background Polygenic risk scores (PRS), which offer information about genomic risk for
common diseases, have been proposed for clinical implementation. The ways in which PRS …

Polygenic risk scores, radiation treatment exposures and subsequent cancer risk in childhood cancer survivors

TM Gibson, DM Karyadi, SW Hartley, MA Arnold… - Nature medicine, 2024 - nature.com
Survivors of childhood cancer are at increased risk for subsequent cancers attributable to
the late effects of radiotherapy and other treatment exposures; thus, further understanding of …

[HTML][HTML] Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review

P Dixon, E Keeney, JC Taylor, S Wordsworth… - Genetics in …, 2022 - Elsevier
Purpose Polygenic risk influences susceptibility to cancer. We assessed whether polygenic
risk scores could be used in conjunction with other predictors of future disease status in cost …

Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores

M Siermann, O Valcke, JR Vermeesch… - European Journal of …, 2023 - nature.com
Preimplantation genetic testing using polygenic risk scores (PGT-P) has recently been
introduced. However, PGT-P has been met with many ethical concerns. It is therefore …

The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary care

JL Vassy, CA Brunette, MS Lebo, K MacIsaac… - The American Journal of …, 2023 - cell.com
Polygenic risk scores (PRSs) hold promise for disease risk assessment and prevention. The
Genomic Medicine at Veterans Affairs (GenoVA) Study is addressing three main challenges …