Accomplishments in Genomic Medicine

The NHGRI Genomic Medicine Working Group (GMWG) is compiling a list of interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for consideration to the GMWG, please email: GMWG@nih.gov.

The GMWG published the following notable accomplishments:

Search for specific publications by title, author, category and/or by date range. For an explanation about the selection criteria and categories, see the list of categories and their definitions.

2019

April 09, 2019 - Genetic testing and results in a population-based cohort of breast cancer patients and ovarian cancer patients

First Author: Kurian, A

Category: Health Disparities

March 29, 2019 - Clinical use of current polygenic risk scores may exacerbate health disparities

First Author: Martin A

Category: Health Disparities , Risk Assessment/Prediction

March 28, 2019 - Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

First Author: Aref-Eshghi E

Category: Undiagnosed Diseases

March 21, 2019 - Multi-site investigation of strategies for the clinical implementation of CYP2D6 genotyping to guide drug prescribing.

First Author: Cavallari L

Category: Systematic Implementation , Pharmacogenomics

March 21, 2019 - ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

First Author: DiStefano M

Category: Gene-Disease Validation

January 25, 2019 - Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

First Author: Ingles J

Category: Gene-Disease Validation

January 24, 2019 - Integrating Genomics into Oncology Practice

First Author: Flynn, S

Category: Systematic Implementation

January 03, 2019 - Interpretation of Genomic Sequencing Results in Health and Ill Newborns: Results from the BabySeq Project

First Author: Ceyhan-Birsoy, O

Category: Sequencing

January 03, 2019 - Integrating Genomics into Healthcare: A Global Responsibility

First Author: Stark Z

Category: Resource

2018

December 26, 2018 - Diagnostic Utility of Exome Sequencing for Kidney Disease

First Author: Groopman, E

Category: Sequencing

December 07, 2018 - Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

First Author: Seifert B

Category: Gene-Disease Validation

December 03, 2018 - Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels

First Author: Lee K

Category: Gene-Disease Validation

November 23, 2018 - Qualitative study of system-level factors related to genomic implementation

First Author: Zebrowski A

Category: Systematic Implementation

October 23, 2018 - A logic model for precision medicine implementation informed by stakeholder views and implementation science

First Author: Chanfreau-Coffiniear C

Category: Systematic Implementation

October 22, 2018 - A framework to build capacity for a reflex-testing program for Lynch syndrome

First Author: Palter V

Category: Systematic Implementation , Oncology

October 16, 2018 - Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions

First Author: Sulev, R

Category: Pharmacogenomics , Systematic Implementation

October 11, 2018 - Evidence-based Assessments of Clinical Actionability in the Context of Secondary Findings: Updates From ClinGen's Actionability Working Group

First Author: Webber E

Category: Secondary Findings , Impact/Outcomes

October 11, 2018 - The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants

First Author: Wain K

Category: Variant Classification

October 11, 2018 - ClinGen's GenomeConnect registry enables patient‐centered data sharing

First Author: Savatt J

Category: Variant Classification

October 10, 2018 - Effect of Genetic Diagnosis on Patients With Previously Undiagnosed Disease

First Author: Splinter K

Category: Undiagnosed Diseases , Sequencing

October 01, 2018 - Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia

First Author: Alver M

Category: Systematic Implementation , Impact/Outcomes

September 26, 2018 - Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility

First Author: Rowley, S

Category: Risk Assessment/Prediction

September 21, 2018 - Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

First Author: Manickam, K

Category: Sequencing , Oncology , Systematic Implementation

September 21, 2018 - Factors influencing NCGENES research participants’ requests for non–medically actionable secondary findings

First Author: Roche M

Category: Secondary Findings , Sequencing

September 20, 2018 - Barriers to Lynch Syndrome Testing and Preoperative Result Availability in Early-onset Colorectal Cancer: A National Physician Survey Study

First Author: Noll A

Category: Other

September 17, 2018 - Effects of Delivering SLCO1B1 Pharmacogenetic Information in Randomized Trial and Observational Settings.

First Author: Peyser, B

Category: Pharmacogenomics

September 17, 2018 - SLCO1B1 and Statin Therapy

First Author: Tuteja, S

Category: Pharmacogenomics

September 12, 2018 - Accurate classification of BRCA1 variants with saturation genome editing.

First Author: Findlay G

Category: Gene-Disease Validation

August 13, 2018 - Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

First Author: Khera A

Category: Risk Assessment/Prediction

August 09, 2018 - A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort

First Author: Schwartz M

Category: Secondary Findings

Related Resources

cpicpgx.org

Clinical Pharmacogenetics Implementation Consortium (CPIC®) Guidelines

About NHGRI

Genomic Medicine Working Group

Research Funding

Division of Genomic Medicine

Last updated: December 10, 2023