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.

2020

March 06, 2020 - Pioneering Informed Consent for Return of Research Results to Breast Cancer Patients Facing Barriers to Implementation of Genomic Medicine: The Kenyan BRCA1/2 Testing Experience Using Whole Exome Sequencing

First Author: Torrorey-Sawe R

Category: Health Disparities , Systematic Implementation

March 01, 2020 - A Centralized Approach for Practicing Genomic Medicine

First Author: Biswas S

Category: Systematic Implementation

January 27, 2020 - An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome

First Author: Adler A

Category: Gene-Disease Validation

January 14, 2020 - Comprehensive genetic diagnosis of Japanese patients with severe proteinuria

First Author: Nagano C

Category: Systematic Implementation , Sequencing

2019

December 20, 2019 - Assessing relatives’ readiness for hereditary cancer cascade genetic testing

First Author: Bednar E

Category: Pilot Implementation , Oncology

December 19, 2019 - The African Genomic Medicine Training Initiative (AGMT): Showcasing a Community and Framework Driven Genomic Medicine Training for Nurses in Africa

First Author: Nembaware V

Category: Systematic Implementation

December 19, 2019 - Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort

First Author: Li H

Category: Variant Classification , Oncology

December 05, 2019 - TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

First Author: van der Meij K

Category: Systematic Implementation

November 29, 2019 - Prospective, Phenotype-Driven Selection of Critically Ill Neonates for Rapid Exome Sequencing Is Associated With High Diagnostic Yield

First Author: Gubbels, C

Category: Sequencing , Systematic Implementation

November 25, 2019 - Returning incidental findings in African genomics research

First Author: Wonkam A

Category: Resource

November 16, 2019 - Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

First Author: Bean L

Category: Resource

November 11, 2019 - Rare Genetic Variants Associated With Sudden Cardiac Death in Adults

First Author: Khera, A

Category: Gene-Disease Validation

November 06, 2019 - Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

First Author: Riggs E

Category: Resource

October 31, 2019 - Elexacaftor-Tezacaftor-Ivacaftor fo Cystic Fibrosis with a Single Phe508del Allele

First Author: Middleton, P

Category: Gene-Disease Validation

October 31, 2019 - Genome Sequencing Explore Complexity of Chromosomal Abnormalities in Recurrent Miscarriage

First Author: Dong, Z

Category: Sequencing

October 29, 2019 - Genomic information for clinicians in the electronic health record: Lessons learned from the Clinical Genome Resource project and the Electronic Medical Records and Genomics network

First Author: Williams M

Category: Resource

October 24, 2019 - A Genotype-Guided Strategy for Oral P2Y12 Inhibitors in Primary PCI

First Author: Claassens, D

Category: Pharmacogenomics

October 22, 2019 - Cases in Precision Medicine: The Role of Tumor and Germline Genetic Testing in Breast Cancer Management

First Author: Tischler J

Category: Resource

October 15, 2019 - Cases in Precision Medicine: A Personalized Approach to Stroke and Cardiovascular Risk Assessment in Women

First Author: Bello NA

Category: Resource

October 09, 2019 - Patient-customized oligonucleotide therapy for a rare genetic disease

First Author: Kim J

Category: Pilot Implementation

October 08, 2019 - Cases in Precision Medicine: APOL1 and Genetic Testing in the Evaluation of Chronic Kidney Disease and Potential Transplant

First Author: Neugut YD

Category: Resource

October 02, 2019 - Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer

First Author: Karam R

Category: Oncology , Risk Assessment/Prediction , Variant Classification

October 01, 2019 - Cases in Precision Medicine: Should You Participate in a Study Involving Genomic Sequencing of Your Patients?

First Author: Appelbaum PS

Category: Resource

September 10, 2019 - Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS)

First Author: Trosman J

Category: Sequencing , Impact/Outcomes , Systematic Implementation

August 22, 2019 - Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

First Author: eMERGE Consortium

Category: Sequencing , Systematic Implementation

August 17, 2019 - A Decision-Theoretic Approach to Panel-Based, Preemptive Genotyping.

First Author: Shi, Y

Category: Pharmacogenomics , Systematic Implementation

August 15, 2019 - Rates of actionable genetic findings in individuals with colorectal cancer or polyps ascertained from a community medical setting

First Author: Gordon, A

Category: Risk Assessment/Prediction

August 05, 2019 - Building evidence and measuring clinical outcomes for genomic medicine

First Author: Peterson J

Category: Resource

August 05, 2019 - Genomic medicine for undiagnosed diseases

First Author: Wise A

Category: Resource

August 05, 2019 - Pharmacogenomics

First Author: Roden D

Category: Resource

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