The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary care

Returning integrated genomic risk and clinical recommendations: the eMERGE study

(2023) Jodell E. Linder et al.   GENETICS IN MEDICINE

Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

(2023) Honey V. Reddi et al.   GENETICS IN MEDICINE

The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

(2023) Aya Abu-El-Haija et al.   GENETICS IN MEDICINE

NCCN Guidelines® Insights: Prostate Cancer Early Detection, Version 1.2023

(2023) Kelvin A. Moses et al.   Journal of the National Comprehensive Cancer Network

Utility of polygenic risk scores in UK cancer screening: a modelling analysis

(2023) Catherine Huntley et al.   LANCET ONCOLOGY

Polygenic scoring accuracy varies across the genetic ancestry continuum

(2023) Yi Ding et al.   NATURE

Incorporating a polygenic risk score-triaged coronary calcium score into cardiovascular disease examinations to identify subclinical coronary artery disease (ESCALATE): Protocol for a prospective, nonrandomized implementation trial

(2023) Michael P. Gray et al.   AMERICAN HEART JOURNAL

NCCN Guidelines® Insights: Breast Cancer Screening and Diagnosis, Version 1.2023

(2023) Therese B. Bevers et al.   Journal of the National Comprehensive Cancer Network

Establishing the Medical Actionability of Genomic Variants

(2022) Katrina A.B. Goddard et al.   Annual Review of Genomics and Human Genetics

Referring high-risk individuals for lung cancer screening: A systematic review of interventions with healthcare professionals

(2022) Mohamad M. Saab et al.   EUROPEAN JOURNAL OF CANCER PREVENTION

Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores

(2022) Omer Weissbrod et al.   NATURE GENETICS

Development of a clinical polygenic risk score assay and reporting workflow

(2022) Limin Hao et al.   NATURE MEDICINE

Early detection of cancer

(2022) David Crosby et al.   SCIENCE

ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

(2022) David T. Miller et al.   GENETICS IN MEDICINE

Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations

(2022) Tian Ge et al.   Genome Medicine

Performance of EHR classifiers for patient eligibility in a clinical trial of precision screening

(2022) Nicholas V.J. Alexander et al.   Contemporary Clinical Trials

2. Classification and Diagnosis of Diabetes: Standards of Care in Diabetes—2023

(2022) Nuha A. ElSayed et al.   DIABETES CARE

Screening for Colorectal Cancer

(2021) et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Impact of personal genomic risk information on melanoma prevention behaviors and psychological outcomes: a randomized controlled trial

(2021) Amelia K. Smit et al.   GENETICS IN MEDICINE

Polygenic risk scores: from research tools to clinical instruments

(2020) Cathryn M. Lewis et al.   Genome Medicine

Measuring clinical utility in the context of genetic testing: a scoping review

(2020) Shantel E. Walcott et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Early Rhythm-Control Therapy in Patients with Atrial Fibrillation

(2020) Paulus Kirchhof et al.   NEW ENGLAND JOURNAL OF MEDICINE

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

(2020) Akl C. Fahed et al.   Nature Communications

Genotype imputation and variability in polygenic risk score estimation

(2020) Shang-Fu Chen et al.   Genome Medicine

Race and ethnicity reporting for clinical trials in ClinicalTrials.gov and publications

(2020) Kevin M. Fain et al.   Contemporary Clinical Trials

BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors

(2019) Andrew Lee et al.   GENETICS IN MEDICINE

Clinical use of current polygenic risk scores may exacerbate health disparities

(2019) Alicia R. Martin et al.   NATURE GENETICS

Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk

(2019) Ozlem Senol-Cosar et al.   GENETICS IN MEDICINE

Analysis of polygenic risk score usage and performance in diverse human populations

(2019) L. Duncan et al.   Nature Communications

Towards clinical utility of polygenic risk scores

(2019) Samuel A Lambert et al.   HUMAN MOLECULAR GENETICS

Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores

(2019) Julian R. Homburger et al.   Genome Medicine

Subclinical and Device-Detected Atrial Fibrillation: Pondering the Knowledge Gap: A Scientific Statement From the American Heart Association

(2019) Peter A. Noseworthy et al.   CIRCULATION

Mortality Disparities in Racial/Ethnic Minority Groups in the Veterans Health Administration: An Evidence Review and Map

(2018) Kim Peterson et al.   AMERICAN JOURNAL OF PUBLIC HEALTH

How is genetic testing evaluated? A systematic review of the literature

(2018) Erica Pitini et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Screening for Prostate Cancer

(2018) et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The personal and clinical utility of polygenic risk scores

(2018) Ali Torkamani et al.   NATURE REVIEWS GENETICS

Making Neighborhood-Disadvantage Metrics Accessible — The Neighborhood Atlas

(2018) Amy J.H. Kind et al.   NEW ENGLAND JOURNAL OF MEDICINE

Impact of SLCO1B1 pharmacogenetic testing on patient and healthcare outcomes: A systematic review

(2018) Jason L. Vassy et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults

(2018) Michael Inouye et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Type 2 diabetes

(2017) Sudesna Chatterjee et al.   LANCET

Screening for Breast Cancer: U.S. Preventive Services Task Force Recommendation Statement

(2016) Albert L. Siu et al.   ANNALS OF INTERNAL MEDICINE

Randomized trial finds that prostate cancer genetic risk score feedback targets prostate-specific antigen screening among at-risk men

(2016) Aubrey R. Turner et al.   CANCER

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

(2016) Jessica Ezzell Hunter et al.   GENETICS IN MEDICINE

Pragmatic Trials

(2016) Ian Ford et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics

(2015)   GENETICS IN MEDICINE

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

(2015) Jonathan S. Berg et al.   GENETICS IN MEDICINE

The PRECIS-2 tool: designing trials that are fit for purpose

(2015) K. Loudon et al.   BMJ-British Medical Journal

The PRECIS-2 tool: designing trials that are fit for purpose

(2015) K. Loudon et al.   BMJ-British Medical Journal

2013 ACC/AHA Guideline on the Treatment of Blood Cholesterol to Reduce Atherosclerotic Cardiovascular Risk in Adults

(2013) Neil J. Stone et al.   CIRCULATION

How can polygenic inheritance be used in population screening for common diseases?

(2013) Muin J. Khoury et al.   GENETICS IN MEDICINE

Personalized Genetic Risk Counseling to Motivate Diabetes Prevention: A randomized trial

(2012) R. W. Grant et al.   DIABETES CARE

2012 ACCF/AHA/ACP/AATS/PCNA/SCAI/STS Guideline for the Diagnosis and Management of Patients With Stable Ischemic Heart Disease: Executive Summary

(2012) Stephan D. Fihn et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Data preprocessing techniques for classification without discrimination

(2011) Faisal Kamiran et al.   KNOWLEDGE AND INFORMATION SYSTEMS

Research on Rural Veterans: An Analysis of the Literature

(2008) William B. Weeks et al.   JOURNAL OF RURAL HEALTH