Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps

Three models for the regulation of polygenic scores in reproduction

(2021) Sarah Munday et al.   JOURNAL OF MEDICAL ETHICS

Race and Genetic Ancestry in Medicine — A Time for Reckoning with Racism

(2021) Luisa N. Borrell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Polygenic risk scores in cardiovascular risk prediction: A cohort study and modelling analyses

(2021) Luanluan Sun et al.   PLOS MEDICINE

Improving reporting standards for polygenic scores in risk prediction studies

(2021) Hannah Wand et al.   NATURE

The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation

(2021) Samuel A. Lambert et al.   NATURE GENETICS

Polygenic Risk Scores have high diagnostic capacity in ankylosing spondylitis

(2021) Zhixiu Li et al.   ANNALS OF THE RHEUMATIC DISEASES

Genetic risk scores for cardiometabolic traits in sub-Saharan African populations

(2021) Kenneth Ekoru et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Institutional and Social Issues Surrounding Genetic Counselors in Japan: Current Challenges and Implications for the Global Community

(2021) Yayoi Aizawa et al.   Frontiers in Genetics

Problems with Using Polygenic Scores to Select Embryos

(2021) Patrick Turley et al.   NEW ENGLAND JOURNAL OF MEDICINE

Of Screening, Stratification, and Scores

(2021) Bartha M. Knoppers et al.   Journal of Personalized Medicine

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

(2021) Deanna G. Brockman et al.   BMC Medical Genomics

Predictive Accuracy of a Polygenic Risk Score–Enhanced Prediction Model vs a Clinical Risk Score for Coronary Artery Disease

(2020) Joshua Elliott et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The GWAS Diversity Monitor tracks diversity by disease in real time

(2020) Melinda C. Mills et al.   NATURE GENETICS

Is useful research data usually shared? An investigation of genome-wide association study summary statistics

(2020) Mike Thelwall et al.   PLoS One

Variable prediction accuracy of polygenic scores within an ancestry group

(2020) Hakhamanesh Mostafavi et al.   eLife

Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups

(2020) Ozan Dikilitas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ancestry deconvolution and partial polygenic score can improve susceptibility predictions in recently admixed individuals

(2020) Davide Marnetto et al.   Nature Communications

Dimensionality reduction reveals fine-scale structure in the Japanese population with consequences for polygenic risk prediction

(2020) Saori Sakaue et al.   Nature Communications

Polygenic risk scores: from research tools to clinical instruments

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

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

(2020) Daniel R. Barnes et al.   GENETICS IN MEDICINE

A combined risk score enhances prediction of type 1 diabetes among susceptible children

(2020) Lauric A. Ferrat et al.   NATURE MEDICINE

A Genomic Test for Colorectal Cancer Risk: Is This Acceptable and Feasible in Primary Care?

(2020) Sibel Saya et al.   Public Health Genomics

Development of a polygenic risk score to improve screening for fracture risk: A genetic risk prediction study

(2020) Vincenzo Forgetta et al.   PLOS MEDICINE

Obesity, clinical, and genetic predictors for glycemic progression in Chinese patients with type 2 diabetes: A cohort study using the Hong Kong Diabetes Register and Hong Kong Diabetes Biobank

(2020) Guozhi Jiang et al.   PLOS MEDICINE

Genomic risk scores for juvenile idiopathic arthritis and its subtypes

(2020) Rodrigo Cánovas et al.   ANNALS OF THE RHEUMATIC DISEASES

From race-based to race-conscious medicine: how anti-racist uprisings call us to act

(2020) Jessica P Cerdeña et al.   LANCET

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

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

Polygenic Scores for Height in Admixed Populations

(2020) Bárbara D. Bitarello et al.   G3-Genes Genomes Genetics

The role of polygenic risk and susceptibility genes in breast cancer over the course of life

(2020) Nina Mars et al.   Nature Communications

Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis

(2019) Seth A. Sharp et al.   DIABETES CARE

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

Type 1 diabetes defined by severe insulin deficiency occurs after 30 years of age and is commonly treated as type 2 diabetes

(2019) Nicholas J. Thomas et al.   DIABETOLOGIA

Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland

(2019) Sini Kerminen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

On What We Have Learned and Still Need to Learn about the Psychosocial Impacts of Genetic Testing

(2019) Erik Parens et al.   HASTINGS CENTER REPORT

Genetic Risk Scores for Diabetes Diagnosis and Precision Medicine

(2019) Miriam S Udler et al.   ENDOCRINE REVIEWS

Towards clinical utility of polygenic risk scores

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

Predicting Benefit From Evolocumab Therapy in Patients With Atherosclerotic Disease Using a Genetic Risk Score: Results From the FOURIER Trial

(2019) Nicholas A. Marston et al.   CIRCULATION

Patients with High Genome-Wide Polygenic Risk Scores for Coronary Artery Disease May Receive Greater Clinical Benefit from Alirocumab Treatment in the Odyssey Outcomes Trial

(2019) Amy Damask et al.   CIRCULATION

Population Whole Exome Screening

(2019) Patrick R. Heck et al.   MEDICAL CLINICS OF NORTH AMERICA

Two Threats to Precision Medicine Equity

(2019) Dayna Bowen Matthew   ETHNICITY & DISEASE

The personal and clinical utility of polygenic risk scores

(2018) Ali Torkamani et al.   NATURE REVIEWS GENETICS

Frequency and phenotype of type 1 diabetes in the first six decades of life: a cross-sectional, genetically stratified survival analysis from UK Biobank

(2018) Nicholas J Thomas et al.   Lancet Diabetes & Endocrinology

A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort

(2018) Marci L.B. Schwartz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

(2018) Nasim Mavaddat et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Global State of the Genetic Counseling Profession

(2018) MaryAnn Abacan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetic database software as medical devices

(2018) Adrian Thorogood et al.   HUMAN MUTATION

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

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

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

(2018) Annalisa Buniello et al.   NUCLEIC ACIDS RESEARCH

Genome-wide association study identifies 112 new loci for body mass index in the Japanese population

(2017) Masato Akiyama et al.   NATURE GENETICS

Effect of Disclosing Genetic Risk for Coronary Heart Disease on Information Seeking and SharingCLINICAL PERSPECTIVE

(2017) Sherry-Ann N. Brown et al.   Circulation-Cardiovascular Genetics

Incorporating a Genetic Risk Score Into Coronary Heart Disease Risk EstimatesCLINICAL PERSPECTIVE

(2016) Iftikhar J. Kullo et al.   CIRCULATION

Genomic prediction of coronary heart disease

(2016) Gad Abraham et al.   EUROPEAN HEART JOURNAL

Using Genetic Technologies To Reduce, Rather Than Widen, Health Disparities

(2016) Caren E. Smith et al.   HEALTH AFFAIRS

Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease

(2016) Amit V. Khera et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Type 1 Diabetes Genetic Risk Score Can Aid Discrimination Between Type 1 and Type 2 Diabetes in Young Adults

(2015) Richard A. Oram et al.   DIABETES CARE

Risk prediction by genetic risk scores for coronary heart disease is independent of self-reported family history

(2015) Hayato Tada et al.   EUROPEAN HEART JOURNAL

Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials

(2015) Jessica L Mega et al.   LANCET

Explaining, not just predicting, drives interest in personal genomics

(2015) Susanne F. Meisel et al.   Genome Medicine

Genomic prediction of celiac disease targeting HLA-positive individuals

(2015) Gad Abraham et al.   Genome Medicine

Sickle cell trait diagnosis: clinical and social implications

(2015) R. P. Naik et al.   Hematology-American Society of Hematology Education Program

Accurate and Robust Genomic Prediction of Celiac Disease Using Statistical Learning

(2014) Gad Abraham et al.   PLoS Genetics

Effect of Knowledge of APOE Genotype on Subjective and Objective Memory Performance in Healthy Older Adults

(2013) Tara T. Lineweaver et al.   AMERICAN JOURNAL OF PSYCHIATRY

Multilocus Genetic Risk Scores for Coronary Heart Disease Prediction

(2013) Andrea Ganna et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Genetic Risk Prediction and a 2-Stage Risk Screening Strategy for Coronary Heart Disease

(2013) Emmi Tikkanen et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants

(2013) Jihane Romanos et al.   GUT

The Behavioral Response to Personalized Genetic Information: Will Genetic Risk Profiles Motivate Individuals and Families to Choose More Healthful Behaviors?

(2010) Colleen M. McBride et al.   Annual Review of Public Health