polygenic risk score

Enhancing Genetic Discovery in Sensorineural Hearing Loss Through Precision Audiometric Phenotyping

By MedXY 10/19/2026

Precision phenotyping using audiometric pure-tone averages enhances genetic variant detection for sensorineural hearing loss compared to diagnostic coding, offering improved heritability estimates and risk prediction to advance hearing health precision medicine.

Neurology news Psychiatry

ADHD and Risk of Late-Life Cognitive Impairment: Insights from Clinical and Genetic Data

By MedXY 10/13/2026

A comprehensive cohort study demonstrates that ADHD significantly increases the risk of mild cognitive impairment and dementia in older adults, highlighting the need for targeted monitoring and integrated care in this vulnerable population.

news Respiratory

Polygenic Risk Score Enhances Diagnosis and Prognostic Stratification in Idiopathic Pulmonary Fibrosis

By MedXY 10/08/2026

A polygenic risk score (PRS) significantly associates with IPF diagnosis and mortality, demonstrating potential for improving clinical risk stratification using real-world biobank data.

Cardiology Clinical Updates news

Polygenic Risk Based Detection and Treatment of Subclinical Coronary Atherosclerosis in the PROACT Clinical Trials: A Genotype-First Precision Prevention Approach

By MedXY 09/15/2026

This review synthesizes emerging evidence from the PROACT trials on genotype-first identification of subclinical coronary atherosclerosis using polygenic risk scores (PRS), highlighting feasibility, engagement, and high prevalence of silent plaque with implications for targeted early intervention.

Cardiology news

Harnessing Genetic Insights: Polygenic Risk Score Enhances Prediction of Peripheral Artery Disease and Limb Events

By MedXY 09/06/2026

A validated polygenic risk score (PRS) independently predicts peripheral artery disease (PAD) and major adverse limb events (MALE) in patients with cardiometabolic disease, adding modest but significant predictive value beyond traditional clinical risk factors.

Diabetes & Endocrinology news Ophthalmology

Gene-Lifestyle Synergy in Diabetic Retinopathy Development

By MedXY 08/23/2026

This study reveals how genetic risk for diabetic retinopathy can be significantly mitigated by healthy lifestyle choices, emphasizing universal behavioral interventions for prevention.

news Ophthalmology

Enhancing Glaucoma Research Accuracy: Contrasting Diagnostic and Treatment-Based Definitions in UK Biobank

By MedXY 06/29/2026

This study compares diagnostic-only versus combined diagnostic and treatment-based definitions of glaucoma in UK Biobank participants, revealing stronger associations of risk factors and severity biomarkers with definitions including treatment evidence, thereby informing future glaucoma research in population cohorts.

Gastroenterology news Pediatrics

PRDM9 Deficiency Identifies a Predominant Molecular Subgroup in Sporadic Hirschsprung Disease and Enables Blood-based Risk Stratification

By MedXY 06/10/2026

A 2026 Gastroenterology study links PRDM9 deficiency to ectopic DNA breaks, mosaic promoter deletions, and impaired enteric neuronal differentiation in sporadic Hirschsprung disease, while introducing a blood-based molecular score that improves case discrimination, especially when combined with polygenic risk.

news Oncology Public Health

Impact of Population-Based Pathogenic Variant Testing on Risk-Based Breast Screening Recommendations

By MedXY 06/10/2026

Population-based testing for breast cancer pathogenic variants identified many women who would not have been flagged by clinical or polygenic risk models, supporting its role in risk-based screening.

news Oncology Public Health

Impact of Population-Based Pathogenic Variant Testing on Risk-Based Breast Screening Recommendations: A Secondary Analysis of the WISDOM Study

By MedXY 06/09/2026

This WISDOM Study analysis found that most women with breast cancer pathogenic variants would not have been flagged for high-risk screening by clinical or polygenic risk models alone, supporting population-based genetic testing.

news Ophthalmology

Genomic Risk Profiling May Help Predict Which Patients With Fuchs Endothelial Corneal Dystrophy Progress to Keratoplasty

By MedXY 05/27/2026

A 2026 Ophthalmology study suggests that combining CTG18.1 expansion testing with a FECD-specific polygenic risk score can improve prediction of keratoplasty risk across independent cohorts.

news Oncology Public Health

Age-Dependent Interplay of Modifiable Risk Factors and Genetic Risk in Pancreatic Cancer

By MedXY 05/15/2026

A UK Biobank study found that lifestyle-related pancreatic cancer risks were strongest in younger adults, especially those with high genetic risk, supporting early prevention efforts.

Diabetes & Endocrinology news Public Health

Multi-ancestry Polygenic Risk Scores Substantially Improve Type 2 Diabetes Risk Prediction Across Diverse Populations

By MedXY 05/10/2026

A large multi-ancestry study shows that publicly available polygenic risk scores improve prediction of type 2 diabetes onset and selected microvascular complications across major global ancestry groups.

Cardiology news

Development and Validation of a Clinical Polygenic Risk Report in U.S.-Based Health Systems for 8 Cardiovascular Conditions

By MedXY 05/02/2026

Researchers developed and validated integrated polygenic risk scores for eight cardiovascular conditions using data from over 245,000 individuals. These scores demonstrated strong predictive power and improved risk classification, providing a clinically implementable framework for genetic risk reporting.

Cardiology Clinical Updates news OB/GYN & Women's Health

Genetic Risk Scores and Postpartum Hypertension: Integrating Polygenic Insight with Clinical Risk Stratification

By MedXY 04/07/2026

This review explores how polygenic risk scores and clinical factors like BMI and pregnancy history predict incident hypertension 2 to 7 years post-delivery, highlighting the dominance of modifiable risk factors over genetic predisposition.

Diabetes & Endocrinology news Pediatrics

Leveling the Playing Field: New Trans-Ancestry Polygenic Risk Score Transforms Type 1 Diabetes Screening

By MedXY 03/10/2026

Researchers have developed a trans-ancestry polygenic risk score (TA-PS) that significantly improves the accuracy of type 1 diabetes prediction across diverse ethnic groups, addressing the long-standing European bias in genetic risk assessment and paving the way for more equitable global screening.

Cardiology Clinical Updates Family Medicine & Nutrition news

Synergistic Benefits of Plant-Based Lifestyles and Genetic Resilience: A New Paradigm for Coronary Heart Disease Prevention

By MedXY 03/03/2026

This review synthesizes findings on the hPDI-Lifestyle score, demonstrating that adherence to a healthy plant-based diet combined with ideal behaviors significantly mitigates coronary heart disease risk, particularly among those with high genetic susceptibility.

Cardiology Clinical Updates news

Decoding the Genetic Complexity of Bicuspid Aortic Valve: From Genome-Wide Discovery to Clinical Risk Stratification

By MedXY 03/02/2026

This review synthesizes the landmark 2026 findings by Thériault et al., identifying 36 genomic loci and a significant polygenic contribution to bicuspid aortic valve, offering new insights into cardiac morphogenesis and clinical risk prediction.

Cardiology news

Integrating Serum Metabolomics and Polygenic Risk Scores Redefines 5-Year Atrial Fibrillation Prediction

By MedXY 03/01/2026

A massive UK Biobank study demonstrates that combining serum metabolomics with polygenic risk scores and clinical data significantly improves the prediction of incident atrial fibrillation, identifying key metabolic markers like linoleic acid that enhance traditional risk stratification tools.

Neurology news

LOAD Polygenic Risk in Early-Onset Alzheimer’s: Insights into Synaptic Dysfunction and Amyloid Pathophysiology

By MedXY 02/14/2026

A comprehensive study explores how polygenic risk scores for late-onset Alzheimer’s disease (LOAD) influence early-onset (EOAD) cases. While these scores do not independently predict EOAD onset or cognitive decline, they reveal significant associations with synaptic damage markers like SNAP-25 and amyloid deposition.