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Patient-Centered Precision Health In A Learning Health Care System: Geisinger's Genomic Medicine Experience

Health Affairs, 2018-05, Vol.37 (5), p.757-764

2018

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Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort

BMC medicine, 2022-06, Vol.20 (1), p.205-205, Article 205

2022

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Investigating Psychological Impact after Receiving Genetic Risk Results-A Survey of Participants in a Population Genomic Screening Program

Journal of personalized medicine, 2022-11, Vol.12 (12), p.1943

2022

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Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents

BMC pediatrics, 2020-05, Vol.20 (1), p.222-222, Article 222

2020

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Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort

BMC medical genomics, 2021-01, Vol.14 (1), p.11-11, Article 11

2021

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Patient assessment of chatbots for the scalable delivery of genetic counseling

Journal of genetic counseling, 2019-12, Vol.28 (6), p.1166-1177

2019

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Digital health-enabled genomics: Opportunities and challenges

American journal of human genetics, 2022-07, Vol.109 (7), p.1190-1198

2022

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Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health Records

JACC CardioOncology, 2021-10, Vol.3 (4), p.550-561

2021

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Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community Health Initiative, a Population-Based Genomic Screening Initiative

Journal of personalized medicine, 2022-09, Vol.12 (9), p.1511

2022

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

American journal of human genetics, 2018-09, Vol.103 (3), p.328-337

2018

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Clinical outcomes of a genomic screening program for actionable genetic conditions

Genetics in medicine, 2020-11, Vol.22 (11), p.1874-1882

2020

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Design and pilot results from the Million Veteran Program Return Of Actionable Results (MVP-ROAR) Study

The American heart journal, 2024-10, Vol.276, p.99-109

2024

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Genetic counseling for patients with positive genomic screening results: Considerations for when the genetic test comes first

Journal of genetic counseling, 2021-06, Vol.30 (3), p.634-644

2021

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Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association

Circulation. Genomic and precision medicine, 2023-04, Vol.16 (2), p.e000092

2023

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Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Genome medicine, 2023-10, Vol.15 (1), p.86-86, Article 86

2023

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Design and implementation of a randomized controlled trial of genomic counseling for patients with chronic disease

Journal of personalized medicine, 2014-01, Vol.4 (1), p.1-19

2014

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Direct-to-Consumer Personal Genomic Testing: A Case Study and Practical Recommendations for “Genomic Counseling”

Journal of genetic counseling, 2012-06, Vol.21 (3), p.402-412

2012

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Prevalence and Electronic Health Record-Based Phenotype of Loss-of-Function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Genes

Circulation. Genomic and precision medicine, 2019-11, Vol.12 (11), p.e002579-e002579

2019

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Operationalizing the Reciprocal Engagement Model of Genetic Counseling Practice: a Framework for the Scalable Delivery of Genomic Counseling and Testing

Journal of genetic counseling, 2018-09, Vol.27 (5), p.1111-1129

2018

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Outcomes of a Randomized Controlled Trial of Genomic Counseling for Patients Receiving Personalized and Actionable Complex Disease Reports

Journal of genetic counseling, 2017-10, Vol.26 (5), p.980-998

2017

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Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results

Circulation. Genomic and precision medicine, 2023-04, Vol.16 (2), p.e003816-e003816

2023

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Counselees’ Perspectives of Genomic Counseling Following Online Receipt of Multiple Actionable Complex Disease and Pharmacogenomic Results: a Qualitative Research Study

Journal of genetic counseling, 2017-08, Vol.26 (4), p.738-751

2017

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Clinical Findings and Diagnostic Yield of Arrhythmogenic Cardiomyopathy Through Genomic Screening of Pathogenic or Likely Pathogenic Desmosome Gene Variants

Circulation. Genomic and precision medicine, 2021-04, Vol.14 (2), p.e003302-e003302

2021

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Managing Secondary Genomic Findings Associated With Arrhythmogenic Right Ventricular Cardiomyopathy: Case Studies and Proposal for Clinical Surveillance

Circulation. Genomic and precision medicine, 2018-07, Vol.11 (7), p.e002237-e002237

2018

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ClinGen — The Clinical Genome Resource

The New England journal of medicine, 2015-06, Vol.372 (23), p.2235-2242

2015

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Patient-Centered Precision Health In A Learning Health Care System: Geisinger's Genomic Medicine Experience

Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort

Investigating Psychological Impact after Receiving Genetic Risk Results-A Survey of Participants in a Population Genomic Screening Program

Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents

Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort

Patient assessment of chatbots for the scalable delivery of genetic counseling

Digital health-enabled genomics: Opportunities and challenges

Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health Records

Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community Health Initiative, a Population-Based Genomic Screening Initiative

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

Clinical outcomes of a genomic screening program for actionable genetic conditions

Design and pilot results from the Million Veteran Program Return Of Actionable Results (MVP-ROAR) Study

Genetic counseling for patients with positive genomic screening results: Considerations for when the genetic test comes first

Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association

Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Design and implementation of a randomized controlled trial of genomic counseling for patients with chronic disease

Direct-to-Consumer Personal Genomic Testing: A Case Study and Practical Recommendations for “Genomic Counseling”

Prevalence and Electronic Health Record-Based Phenotype of Loss-of-Function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Genes

Operationalizing the Reciprocal Engagement Model of Genetic Counseling Practice: a Framework for the Scalable Delivery of Genomic Counseling and Testing

Outcomes of a Randomized Controlled Trial of Genomic Counseling for Patients Receiving Personalized and Actionable Complex Disease Reports

Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results

Counselees’ Perspectives of Genomic Counseling Following Online Receipt of Multiple Actionable Complex Disease and Pharmacogenomic Results: a Qualitative Research Study

Clinical Findings and Diagnostic Yield of Arrhythmogenic Cardiomyopathy Through Genomic Screening of Pathogenic or Likely Pathogenic Desmosome Gene Variants

Managing Secondary Genomic Findings Associated With Arrhythmogenic Right Ventricular Cardiomyopathy: Case Studies and Proposal for Clinical Surveillance

ClinGen — The Clinical Genome Resource

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