Highlights
Public Attitudes, Interests, and Concerns Regarding Polygenic Embryo Screening
From the paper: "Question: Among US adults, what are the general attitudes, interests, and concerns regarding polygenic embryo screening (PES)?
Findings: In this survey study exploring public sentiment toward PES, there was high approval and interest among respondents despite high societal concerns. In a second sample, presenting concerns at survey onset (vs survey end) was associated with less public approval and more uncertainty but with only slightly higher disapproval. Meaning: With the recent commercial availability of unregulated PES, the combination of high approval and high concerns observed among respondents in this study suggests the need for informed dialogue and guidance, particularly in addressing the divide between the public and health care professionals. "
Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network
From the abstract: "The differential performance of polygenic risk scores (PRSs) by group is one of the major ethical barriers to their clinical use. It is also one of the main practical challenges for any implementation effort. The social repercussions of how people are grouped in PRS research must be considered in communications with research participants, including return of results. Here, we outline the decisions faced and choices made by a large multi-site clinical implementation study returning PRSs to diverse participants in handling this issue of differential performance. "
Polygenic scores for longitudinal prediction of incident type 2 diabetes in an ancestrally and medically diverse primary care physician network: a patient cohort study
From the article: "Genetic information, if available, could improve T2D prediction among patients lacking measured clinical risk factors. Genome-wide association studies (GWAS) have identified hundreds of unique loci associated with T2D, the results of which can be used to calculate polygenic scores (PGS) that model genetic risk independently of established clinical risk factors including family history. Previous work has evaluated how PGS can be used within healthcare systems, but analyses have been largely cross-sectional in biobanks of mostly European ancestry, limiting the generalizability of results to a more ancestrally and medically diverse US healthcare system. "
Utility of polygenic scores across diverse diseases in a hospital cohort for predictive modeling
TH Sun et al, Nature Comm, April 12, 2024
From the abstract: "Polygenic scores estimate genetic susceptibility to diseases. We systematically calculated polygenic scores across 457 phenotypes using genotyping array data from Medical University Hospital. Logistic regression models assessed polygenic scores’ ability to predict disease traits. The polygenic score model with the highest accuracy, based on maximal area under the receiver operating characteristic curve (AUC), is provided on the GeneAnaBase website of the hospital. Our findings indicate 49 phenotypes with AUC greater than 0.6, predominantly linked to endocrine and metabolic diseases. "
