[HTML][HTML] Development of a clinical polygenic risk score assay and reporting workflow
Implementation of polygenic risk scores (PRS) may improve disease prevention and
management but poses several challenges: the construction of clinically valid assays …
management but poses several challenges: the construction of clinically valid assays …
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 …
genome to estimate the risk of a disease or disease-related trait for an individual. The …
[HTML][HTML] Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
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 …
challenges remain to be addressed before PRSs can be implemented in the clinic, including …
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 …
studies, can bridge the gap between initial discovery efforts and clinical applications for the …
Polygenic risk scores that predict common diseases using millions of single nucleotide polymorphisms: is more, better?
A Cecile, JW Janssens, MJ Joyner - Clinical chemistry, 2019 - academic.oup.com
Following a decade of slow progress in improving the genetic prediction of common
diseases with tempered expectations about the ultimate predictive ability of polygenic risk …
diseases with tempered expectations about the ultimate predictive ability of polygenic risk …
[HTML][HTML] Implementation and implications for polygenic risk scores in healthcare
JL Slunecka, MD van der Zee, JJ Beck, BN Johnson… - Human genomics, 2021 - Springer
Increasing amounts of genetic data have led to the development of polygenic risk scores
(PRSs) for a variety of diseases. These scores, built from the summary statistics of genome …
(PRSs) for a variety of diseases. These scores, built from the summary statistics of genome …
[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 …
common diseases, have been proposed for clinical implementation. The ways in which PRS …
[HTML][HTML] The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review
J Kumuthini, B Zick, A Balasopoulou, C Chalikiopoulou… - Human Genetics, 2022 - Springer
Genomic medicine aims to improve health using the individual genomic data of people to
inform care. While clinical utility of genomic medicine in many monogenic, Mendelian …
inform care. While clinical utility of genomic medicine in many monogenic, Mendelian …
[HTML][HTML] Polygenic risk scores: from research tools to clinical instruments
Genome-wide association studies have shown unequivocally that common complex
disorders have a polygenic genetic architecture and have enabled researchers to identify …
disorders have a polygenic genetic architecture and have enabled researchers to identify …
[HTML][HTML] Polygenic risk scores: a biased prediction?
FM De La Vega, CD Bustamante - Genome medicine, 2018 - Springer
A new study highlights the biases and inaccuracies of polygenic risk scores (PRS) when
predicting disease risk in individuals from populations other than those used in their …
predicting disease risk in individuals from populations other than those used in their …