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.

2021

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

October 26, 2020 - Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

First Author: Amendola L

Category: Variant Classification

October 13, 2020 - A Tutorial for Pharmacogenomics Implementation through End-to-end Clinical Decision Support Based on Ten Years of Experience from PREDICT

First Author: Liu M

Category: Resource , Pharmacogenomics

October 05, 2020 - Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer

First Author: Wong M

Category: Oncology

October 01, 2020 - Cost-effectiveness of Population-Wide Genomic Screening for Hereditary Breast and Ovarian Cancer in the United States

First Author: Guzauskas G

Category: Impact/Outcomes , Oncology , Risk Assessment/Prediction

September 07, 2020 - Genomic copy number predicts esophageal cancer years before transformation

First Author: Killcoyne S

Category: Risk Assessment/Prediction

August 25, 2020 - Effect of Genotype-Guided Oral P2Y12 Inhibitor Selection vs Conventional Clopidogrel Therapy on Ischemic Outcomes after Percutaneous Coronary Intervention: The TAILOR-PCI Randomized Clinical Trial

First Author: Pereira N

Category: Pharmacogenomics

August 20, 2020 - Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

First Author: Fahed A

Category: Risk Assessment/Prediction

August 17, 2020 - When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation

First Author: Basel-Salmon L

Category: Variant Classification

August 10, 2020 - The Role of Exome Sequencing in Newborn Screening for Inborn Errors of Metabolism

First Author: Adhikari A

Category: Pilot Implementation , Sequencing

August 07, 2020 - A Combined Risk Score Enhances Prediction of Type 1 Diabetes among Susceptible Children

First Author: Ferrat L

Category: Pilot Implementation , Risk Assessment/Prediction

July 27, 2020 - Population Genetic Screening Efficiently Identifies Carriers of Autosomal Dominant Diseases

First Author: Grzymski JJ

Category: Risk Assessment/Prediction

July 22, 2020 - Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population

First Author: Martin CL

Category: Pilot Implementation , Variant Classification

July 02, 2020 - Management of Secondary Genomic Findings

First Author: Katz A

Category: Resource

June 30, 2020 - Clinical outcomes of a genomic screening program for actionable genetic conditions

First Author: Buchanan A

Category: Systematic Implementation , Impact/Outcomes

June 24, 2020 - Whole-genome Sequencing of Patients with Rare Diseases in a National Health System

First Author: Turro E

Category: Systematic Implementation , Sequencing

June 17, 2020 - Frequency of Genomic Secondary Findings among 21,915 eMERGE Network Participants

First Author: Gordon A

Category: Secondary Findings

June 08, 2020 - Genotype-Guided Dosing of Warfarin in Chinese Adults: A Multicenter Randomized Clinical Trial

First Author: Guo C

Category: Pharmacogenomics , Pilot Implementation

June 01, 2020 - The interface of genomic information with the electronic health record: a point to consider statement of the American College of Medical Genetics and Genomics (ACMG)

First Author: Grebe T

Category: Resource

May 14, 2020 - CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

First Author: Deignan, J

Category: Resource

May 14, 2020 - Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

First Author: Deignan, J

Category: Resource

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