NHGRI logo

Accomplishments in Genomic Medicine

The NHGRI Genomic Medicine Working Group (GMWG) compiles 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.

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.


2018

January 30, 2018 - Multisite Investigation of Strategies for the Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy.

First Author: Empey, P

Category: Pharmacogenomics , Systematic Implementation

January 04, 2018 - Proposed outcomes measures for state public health genomic programs

First Author: Doyle D

Category: Impact/Outcomes , Systematic Implementation

January 04, 2018 - The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.

First Author: Dragojlovic N

Category: Sequencing , Impact/Outcomes

2017

November 01, 2017 - Multi-site Investigation of Outcomes with Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy after Percutaneous Coronary Intervention

First Author: Cavallari L

Category: Pharmacogenomics , Systematic Implementation

October 26, 2017 - Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

First Author: Buchanan, A

Category: Risk Assessment/Prediction

August 10, 2017 - Analysis of plasma Epstein-Barr virus DNA to screen for nasopharyngeal cancer

First Author: Chan, K

Category: Risk Assessment/Prediction

July 27, 2017 - The impact of whole genome sequencing on the primary care and outcomes of healthy adult patients: A pilot randomized trial

First Author: Vassy J

Category: Sequencing , Systematic Implementation

July 25, 2017 - Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing

First Author: Knowles J

Category: Resource

June 08, 2017 - Tailoring of recommendations to reduce serious cutaneous adverse drug reactions: a pharmacogenomics approach

First Author: Tan-Koi, W

Category: Pharmacogenomics , Systematic Implementation

May 24, 2017 - Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease

First Author: Dewey, F

Category: Gene-Disease Validation

March 23, 2017 - A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

First Author: Vissers L

Category: Sequencing , Systematic Implementation , Other

January 26, 2017 - Promoting appropriate genetic testing: the impact of a combined test review and consultative service

First Author: Suarez C

Category: Systematic Implementation

January 26, 2017 - tilization of genetic tests: analysis of gene-specific billing in Medicare claims data

First Author: Lynch J

Category: Systematic Implementation

January 19, 2017 - Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes

First Author: Muramatsu H

Category: Sequencing

2016

December 23, 2016 - Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR Study

First Author: Dewey F

Category: Systematic Implementation

December 23, 2016 - Genetic identification of familial hyercholesterolemia within a single U.S. health care system

First Author: Abul-Husn, N

Category: Gene-Disease Validation

December 07, 2016 - Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

First Author: Posey J

Category: Sequencing

Last updated: September 11, 2024