What makes a good life: using theatrical performance to enhance communication about polygenic risk scores research in patient and public involvement DOI Creative Commons
Amy M. Mason,

Ifunanya Obi,

Olamide Ayodele

et al.

Journal of Community Genetics, Journal Year: 2023, Volume and Issue: 14(5), P. 453 - 458

Published: Feb. 10, 2023

The aim of this patient and public involvement engagement (PPIE) work was to explore improvised theatre as a tool for facilitating bi-directional dialogue between researchers patients/members the on topic polygenic risk scores (PRS) use within primary or secondary care. PRS are quantify genetic heritable disease trait may be used predict future health outcomes. In United Kingdom (UK), they often cited next-in-line implemented, their in consumer testing well patient-facing settings is increasing. Despite potential clinical utility, broader themes about how might influence an individual's perception decision-making active area research; however, has mostly been setting return results patients. We worked with youth group patients involved PPIE develop two short plays perceptions information that could captured by PRS. These were shared workshop facilitate discussions perceived benefits, concerns emotional reactions. Discussions both performers patients/public raised three key questions: (1) can data trusted?; (2) does knowing actually help patient?; (3) what makes life worthwhile? Creating watching fictional narratives helped all participants setting, informing research considerations improving communication lay members group.

Language: Английский

Recent advances in polygenic scores: translation, equitability, methods and FAIR tools DOI Creative Commons
Ruidong Xiang, Martin Kelemen, Yu Xu

et al.

Genome Medicine, Journal Year: 2024, Volume and Issue: 16(1)

Published: Feb. 19, 2024

Abstract Polygenic scores (PGS) can be used for risk stratification by quantifying individuals’ genetic predisposition to disease, and many potentially clinically useful applications have been proposed. Here, we review the latest potential benefits of PGS in clinic challenges implementation. could augment through combined use with traditional factors (demographics, disease-specific factors, family history, etc.), support diagnostic pathways, predict groups therapeutic benefits, increase efficiency clinical trials. However, there exist maximizing utility PGS, including FAIR (Findable, Accessible, Interoperable, Reusable) standardized sharing genomic data needed develop recalculate equitable performance across populations ancestries, generation robust reproducible calculations, responsible communication interpretation results. We outline how these may overcome analytically more diverse as well highlight sustained community efforts achieve equitable, impactful, healthcare.

Language: Английский

Citations

30
Polygenic risk score adds to a clinical risk score in the prediction of cardiovascular disease in a clinical setting DOI Creative Commons
Nilesh J. Samani,

Emma Beeston,

Chris Greengrass

et al.

European Heart Journal, Journal Year: 2024, Volume and Issue: 45(34), P. 3152 - 3160

Published: June 7, 2024

Abstract Background and Aims A cardiovascular disease polygenic risk score (CVD-PRS) can stratify individuals into different categories of risk, but whether the addition a CVD-PRS to clinical scores improves identification at increased in real-world setting is unknown. Methods The Genetics Vascular Health Check Study (GENVASC) was embedded within UK National Service (NHSHC) programme which invites between 40–74 years age without known CVD attend an assessment general practice where factors are measured (QRISK2) calculated. Between 2012–2020, 44,141 (55.7% females, 15.8% non-white) who attended NHSHC 147 participating practices across two counties England were recruited followed. When 195 (cases) had suffered major event (CVD death, myocardial infarction or acute coronary syndrome, revascularisation, stroke), 396 propensity-matched controls with similar profile identified, nested case-control genetic study undertaken see if QRISK2 form integrated tool (IRT) combined would have identified more time their as high (QRISK2 10-year ≥10%), compared alone. Results distribution standardised significantly cases (cases mean .32; controls, −.18, P = 8.28×10−9). 61.5% (95% confidence interval [CI]: 54.3%–68.4%) subsequently developed being NHSHC, while combination IRT 68.7% CI: 61.7%–75.2%), relative increase 11.7% (P 1×10−4). odds ratio (OR) up-classified 2.41 1.03–5.64, .031) for controls. In aged 40–54 years, 26.0% 16.5%–37.6%) those event, 38.4% 27.2%–50.5%), indicating stronger 47.7% younger group .001). proportion additional similarly women men, non-white ethnicities white ethnicity. findings when added atherosclerotic pooled cohort equations (ASCVD-PCE) SCORE2 scores. Conclusions setting, information improved went on especially among individuals. provide important evidence potential value implementing health systems.

Language: Английский

Citations

12
Precision Medicine—Are We There Yet? A Narrative Review of Precision Medicine’s Applicability in Primary Care DOI Open Access
William Evans, Eric M. Meslin, Joe Kai

et al.

Journal of Personalized Medicine, Journal Year: 2024, Volume and Issue: 14(4), P. 418 - 418

Published: April 15, 2024

Precision medicine (PM), also termed stratified, individualised, targeted, or personalised medicine, embraces a rapidly expanding area of research, knowledge, and practice. It brings together two emerging health technologies to deliver better individualised care: the many “-omics” arising from increased capacity understand human genome “big data” data analytics, including artificial intelligence (AI). PM has potential transform an individual’s health, moving population-based disease prevention more management. There is however tension between two, with real risk that this will exacerbate inequalities divert funds attention basic healthcare requirements leading worse outcomes for many. All areas should consider how affect their practice, now strongly encouraged supported by government initiatives research funding. In review, we discuss examples in current practice its applications primary care, such as clinical prediction tools incorporate genomic markers pharmacogenomic testing. We look towards future some key questions PM, evidence real-world impact, affordability, exacerbating inequalities, computational storage challenges applying at scale.

Language: Английский

Citations

6
Breaking binary in cardiovascular disease risk prediction DOI Creative Commons
Yichi Zhang, Akl C. Fahed

Deleted Journal, Journal Year: 2025, Volume and Issue: 2(1)

Published: Jan. 13, 2025

Abstract Atherosclerotic cardiovascular disease (ASCVD) remains the leading cause of death in world. However, advances genetics, omics research, machine learning (ML), and precision medicine have inspired revolutionary new tools ASCVD risk stratification. Together, polygenic scores (PRS) composite ML-based algorithms help shift paradigm away from binary predictions towards more comprehensive continuum models. Continued efforts are needed to address socioeconomic racial disparities PRS space.

Language: Английский

Citations

0
Using Genomics to Develop Personalized Cardiovascular Treatments DOI
Mihir M. Sanghvi, William J. Young, Hafiz Naderi

et al.

Arteriosclerosis Thrombosis and Vascular Biology, Journal Year: 2025, Volume and Issue: unknown

Published: April 17, 2025

Advances in genomic technologies have significantly enhanced our understanding of both monogenic and polygenic etiologies cardiovascular disease. In this review, we explore how the utilization information is bringing personalized medicine approaches to forefront disease management. We discuss data can resolve diagnostic uncertainty, support cascade screening, inform treatment strategies. The role that genome-wide association studies had identifying thousands risk variants for diseases, these insights, harnessed through development scores, could advance prediction beyond traditional clinical algorithms. detail pharmacogenomics leverage genotype guide drug selection mitigate adverse events. Finally, present paradigm-shifting approach gene therapy, which holds promise being a curative intervention conditions.

Language: Английский

Citations

0
Pharmacogenomics polygenic risk score: Ready or not for prime time? DOI Creative Commons
Sonal Singh, Gabriele Stocco, Katherine N. Theken

et al.

Clinical and Translational Science, Journal Year: 2024, Volume and Issue: 17(8)

Published: July 30, 2024

Pharmacogenomic Polygenic Risk Scores (PRS) have emerged as a tool to address the polygenic nature of pharmacogenetic phenotypes, increasing potential predict drug response. Most pharmacogenomic PRS been extrapolated from disease-associated variants identified by genome wide association studies (GWAS), although some begun utilize genetic GWAS. As hold promise enabling precision medicine, including stratified treatment approaches, it is important assess opportunities and challenges presented current data. This assessment will help determine how can be advanced transitioned into clinical use. In this review, we present summary recent evidence, evaluate status, identify several that impeded progress PRS. These include reliance on extrapolations disease genetics limitations inherent pharmacogenomics research such low sample sizes, phenotyping inconsistencies, among others. We finally propose recommendations overcome facilitate implementation. standardizing methodologies for phenotyping, enhancing collaborative efforts, developing new statistical methods capitalize drug-specific associations construction. Additional infrastructure integrate genomic data with predictors, along implementing user-friendly decision tools, patient education. Ethical regulatory considerations should issues related privacy, informed consent safe use Despite these challenges, ongoing large-scale collaboration likely advance field realize

Language: Английский

Citations

3
Polygenic Risk Score Implementation into Clinical Practice for Primary Prevention of Cardiometabolic Disease DOI Open Access
Julia Hughes,

Mikayla Shymka,

Trevor Ng

et al.

Genes, Journal Year: 2024, Volume and Issue: 15(12), P. 1581 - 1581

Published: Dec. 9, 2024

Background: Cardiovascular disease is a leading cause of mortality globally and major contributor to disability. Traditional risk factors, as initially established in the FRAMINGHAM study, have helped stratify populations identify patients for early intervention. Incorporating genetic factors enhances stratification tools, enabling earlier identification individuals at increased facilitating more targeted effective factor modifications. While monogenic variants are present minority population, polygenic scores (PRS) collections multiple single-nucleotide that collectively provide summative capture accurate score greater number people. PRS demonstrated clear utility cardiometabolic diseases by predicting onset, progression, therapeutic response. Methods: A structured exploratory hybrid search strategy was employed, combining keyword-based database searches supplementary techniques comprehensively synthesize literature on implementation clinical practice. Discussion: comprehensive overview their potential avenues integration into primary care discussed. First, we examine screening, communication, intervention strategies through lens American Heart Association’s criteria, focusing efficacy, minimization harm, logistical considerations. Then, explores how varied perceptions practitioners towards can influence both adoption utilization. Lastly, addresses need development guidelines regulations support this process, ensuring scientifically sound ethically responsible. Future directions: Initiatives aimed advancing personalized approaches prevention will enhance health outcomes. Developing responsible use establishing benefits, while mitigating risk, key utility. Conclusions: For practice, must address patient provider concerns experience. Standardized training help effectively implement these resources be essential fulfill its personalized, patient-centered care.

Language: Английский

Citations

2
Polygenic scores in real-world cardiovascular risk prediction: the path forward for assessing worth? DOI Creative Commons

Virimchi Pillutla,

Krishna G. Aragam

European Heart Journal, Journal Year: 2024, Volume and Issue: 45(34), P. 3161 - 3163

Published: July 26, 2024

Additional high CVD risk individuals captured by IRT-based approach that integrates clinical and genetic assessment -most bene cial: At moments of equipoise (i.e., intermediate risk) In younger prior to onset factors Integrating information into a real-world framework could capture more assess the true worth PRS Clinical Genetic Low High

Language: Английский

Citations

1
Case–control association study between polygenic risk score and COVID-19 severity in a Russian population using low-pass genome sequencing DOI Creative Commons
Arina Nostaeva, Valentin S. Shimansky, Svetlana V. Apalko

et al.

Epidemiology and Infection, Journal Year: 2024, Volume and Issue: unknown, P. 1 - 22

Published: Dec. 26, 2024

An abstract is not available for this content so a preview has been provided. As you have access to content, full PDF via the 'Save PDF' action button.

Language: Английский

Citations

1
A review of the advances in understanding the genetic basis of spondylarthritis and emerging clinical benefit DOI
Michael A. Stadler, Sizheng Steven Zhao, John Bowes

et al.

Best Practice & Research Clinical Rheumatology, Journal Year: 2024, Volume and Issue: unknown, P. 101982 - 101982

Published: Sept. 1, 2024

Language: Английский

Citations

0