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.

Genomic Medicine Year in Review

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.

2021

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

February 22, 2021 - The NCI Genomic Data Commons

First Author: Heath A

Category: Resource

February 15, 2021 - Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation

First Author: Weedon MN

Category: Resource

February 09, 2021 - Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

First Author: Van Den Bogaert K

Category: Systematic Implementation

January 20, 2021 - A Population-Based Study of Genes Previously Implicated in Breast Cancer

First Author: Hu C

Category: Oncology , Risk Assessment/Prediction

January 20, 2021 - Breast Cancer Risk Genes – Association Analysis in More than 113,000 Women

First Author: Breast Cancer Association Consortium

Category: Oncology , Risk Assessment/Prediction

January 19, 2021 - Cases in Precision Medicine: Genetic Testing to Predict Future Risk for Disease in a Healthy Patient

First Author: Rasouly HM

Category: Resource

January 15, 2021 - Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa

First Author: Ekure E

Category: Health Disparities , Variant Classification

January 11, 2021 - African genetic diversity and adaptation inform a precision medicine agenda

First Author: Pereira L

Category: Resource

2020

November 27, 2020 - A state-based approach to genomics for rare disease and population screening

First Author: East K

Category: Pilot Implementation , Sequencing

November 05, 2020 - A Prospective Study of Parental Perception of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants

First Author: Cakici J

Category: Systematic Implementation , Sequencing

Related Resources

Clinical Pharmacogenetics Implementation Consortium (CPIC®) Guidelines

Genomic Medicine Working Group | NHGRI

Genomic Medicine Working Group

Double helix and doctor

Research Funding

Division of Genomic Medicine

Last updated: September 11, 2024