Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations

NJ Lennon, LC Kottyan, C Kachulis, NS Abul-Husn… - Nature Medicine, 2024 - nature.com
Polygenic risk scores (PRSs) have improved in predictive performance, but several
challenges remain to be addressed before PRSs can be implemented in the clinic, including …

[HTML][HTML] Perspective: the clinical use of polygenic risk scores: race, ethnicity, and health disparities

MC Roberts, MJ Khoury, GA Mensah - Ethnicity & disease, 2019 - ncbi.nlm.nih.gov
Polygenic risk scores (PRS) are an emerging precision medicine tool based on multiple
gene variants that, taken alone, have weak associations with disease risks, but collectively …

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 …

Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores

JJ Connolly, ES Berner, M Smith, S Levy, S Terek… - Genetics in …, 2023 - Elsevier
Polygenic risk scores (PRS) have potential to improve health care by identifying individuals
that have elevated risk for common complex conditions. Use of PRS in clinical practice …

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 …

Improving reporting standards for polygenic scores in risk prediction studies

H Wand, SA Lambert, C Tamburro, MA Iacocca… - Nature, 2021 - nature.com
Polygenic risk scores (PRSs), which often aggregate results from genome-wide association
studies, can bridge the gap between initial discovery efforts and clinical applications for the …

Polygenic risk scores: from research tools to clinical instruments

CM Lewis, E Vassos - Genome medicine, 2020 - Springer
Genome-wide association studies have shown unequivocally that common complex
disorders have a polygenic genetic architecture and have enabled researchers to identify …

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 …

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 …

Current state and future of polygenic risk scores in cardiometabolic disease: a scoping review

JS Phulka, M Ashraf, BK Bajwa, G Pare… - Circulation: Genomic …, 2023 - Am Heart Assoc
A polygenic risk score (PRS) is derived from a genome-wide association study and
represents an aggregate of thousands of single-nucleotide polymorphisms that provide a …