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 …

[HTML][HTML] Impact of polygenic risk communication: an observational mobile application-based coronary artery disease study

ED Muse, SF Chen, S Liu, B Fernandez… - npj Digital …, 2022 - nature.com
We developed a smartphone application, MyGeneRank, to conduct a prospective
observational cohort study (NCT03277365) involving the automated generation …

[HTML][HTML] Design and user experience testing of a polygenic score report: a qualitative study of prospective users

DG Brockman, L Petronio… - BMC Medical …, 2021 - bmcmedgenomics.biomedcentral …
Polygenic scores—which quantify inherited risk by integrating information from many
common sites of DNA variation—may enable a tailored approach to clinical medicine …

[PDF][PDF] Polygenic risk scores in the clinic: translating risk into action

ACF Lewis, RC Green, JL Vassy - Human Genetics and Genomics …, 2021 - cell.com
Polygenic risk scores (PRSs) are heralded as useful tools for risk stratification and
personalized preventive care, but they are clinically useful only if they can be translated into …

[HTML][HTML] Statistical genetics and polygenic risk score for precision medicine

T Konuma, Y Okada - Inflammation …, 2021 - inflammregen.biomedcentral.com
The prediction of disease risks is an essential part of personalized medicine, which includes
early disease detection, prevention, and intervention. The polygenic risk score (PRS) has …

Non-invasive prenatal testing for “non-medical” traits: Ensuring consistency in ethical decision-making

H Bowman-Smart, C Gyngell, C Mand… - The American Journal …, 2023 - Taylor & Francis
The scope of noninvasive prenatal testing (NIPT) could expand in the future to include
detailed analysis of the fetal genome. This will allow for the testing for virtually any trait with a …

[HTML][HTML] The impact of genomics on precision public health: beyond the pandemic

MJ Khoury, KE Holt - Genome medicine, 2021 - Springer
Precision public health has been defined in many ways [1]. It can be viewed as an emerging
multidisciplinary field that uses genomics, big data, and machine learning/artificial …

[HTML][HTML] Advances in sequencing technologies for amyotrophic lateral sclerosis research

E Udine, A Jain… - Molecular …, 2023 - molecularneurodegeneration …
Amyotrophic lateral sclerosis (ALS) is caused by upper and lower motor neuron loss and
has a fairly rapid disease progression, leading to fatality in an average of 2-5 years after …