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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.

2022

March 15, 2022 - Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

First Author: Cohen A

Category: Undiagnosed Diseases

February 25, 2022 - Cost-effectiveness of population-wide genomic screening for Lynch syndrome in the United States

First Author: Guzauskas GF

Category: Risk Assessment/Prediction , Other

February 22, 2022 - The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network

First Author: Leppig KA

Category: Sequencing , Systematic Implementation

2021

December 02, 2021 - Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization

First Author: Blout Zawatsky CL

Category: Systematic Implementation , Sequencing

November 11, 2021 - 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care – Preliminary Report

First Author: 100,000 Genomes Project Pilot Investigators

Category: Undiagnosed Diseases , Pilot Implementation

November 03, 2021 - KCNQ1 and Long QT Syndrome in 1/5 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine

First Author: Streeten EA

Category: Sequencing , Systematic Implementation

September 27, 2021 - Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial

First Author: The NICUSeq Study Group

Category: Pilot Implementation , Sequencing

September 08, 2021 - Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes

First Author: Yoneda ZT

Category: Risk Assessment/Prediction , Pilot Implementation

August 26, 2021 - A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings

First Author: Sapp JC

Category: Educational Resource , Secondary Findings

August 18, 2021 - Queensland Genomics: an adaptive approach for integrating genomics into a public healthcare system

First Author: Vidgen ME

Category: Educational Resource

August 09, 2021 - Limited evolution of the actionable metastatic cancer genome under therapeutic pressure

First Author: van de Haar J

Category: Oncology , Sequencing

August 06, 2021 - Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications

First Author: Murdock D

Category: Risk Assessment/Prediction , Pilot Implementation

August 01, 2021 - Association Between a Common, Benign Genotype and Unnecessary Bone Marrow Biopsies Among African American Patients

First Author: Van Driest S

Category: Educational Resource , Health Disparities

July 21, 2021 - Toward predicting CYP2D6-mediated variable drug response from CYP2D6 gene sequencing data

First Author: van der Lee M

Category: Pharmacogenomics

July 19, 2021 - Multisite investigation of strategies for the clinical implementation of pre-emptive pharmacogenetic testing

First Author: Duarte J

Category: Educational Resource , Pharmacogenomics

July 08, 2021 - Strategies to Integrate Genomic Medicine into Clinical Care: Evidence from the IGNITE Network

First Author: Sperber N

Category: Educational Resource

July 01, 2021 - Principles of Genomic Newborn Screening Programs: A Systematic Review

First Author: Downie L

Category: Educational Resource

June 03, 2021 - Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing

First Author: Morley T

Category: Pilot Implementation , Other

May 10, 2021 - Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection

First Author: Chung W

Category: Educational Resource

March 25, 2021 - Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations

First Author: Martin A

Category: Educational Resource

February 24, 2021 - Expanding evidence leads to new pharmacogenomics payer coverage

First Author: Empey P

Category: Pharmacogenomics

Last updated: January 20, 2022