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.

2022

March 01, 2022 - Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

First Author: Ibañez K

Category: Gene-Disease Validation , 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 25, 2022 - Integration of stakeholder engagement from development to dissemination in genomic medicine research: Approaches and outcomes from the CSER Consortium

First Author: O'Daniel JM

Category: Resource

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

February 09, 2022 - Genetic predisposition to cancer across people of different ancestries in Qatar; a population-based, cohort study

First Author: Saad M

Category: Resource

January 18, 2022 - Towards equitable genomics governance in Africa: Guiding principles from theories of global health governances and the African moral theory of Ubuntu

First Author: Munung NS

Category: Resource , Health Disparities

2021

December 16, 2021 - Points to consider to avoid unfair discrimination and the misuse of genetic information: A statement of the American College of Medical Genetics and Genomics (ACMG)

First Author: Seaver LH

Category: Resource

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

December 01, 2021 - Trends in Use of Next-Generation Sequencing in Patients With Solid Tumors by Race and Ethnicity After Implementation of the Medicare National Coverage Determination

First Author: Sheinson DM

Category: Health Disparities , Systematic Implementation

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 16, 2021 - Implementation of a Molecular Tumor Registry to Support the Adoption of Precision Oncology Within an Academic Medical Center: The Duke University Experience

First Author: Green MF

Category: Resource

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: Resource , Secondary Findings

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

First Author: Vidgen ME

Category: Resource

August 12, 2021 - Impact of personal genomic risk information on melanoma prevention behaviors and psychological outcomes: a randomized controlled trial

First Author: Smit AK

Category: Risk Assessment/Prediction

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: 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: Resource , Pharmacogenomics

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

First Author: Sperber N

Category: Resource

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

First Author: Downie L

Category: Resource

June 14, 2021 - Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial

First Author: Staley B

Category: Resource

June 04, 2021 - Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care

First Author: Dimmock D

Category: Systematic Implementation , Sequencing

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: Resource

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

First Author: Martin A

Category: Resource

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

First Author: Empey P

Category: Pharmacogenomics

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