NHGRI logo

The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.

To submit notable accomplishments for consideration to the Genomic Medicine Working Group (GMWG), please email: GMWG@nih.gov.

The GMWG published a recent paper in the American Journal of Human Genetics, based on the notable accomplishments from this page: 2019 Genomic Medicine Year in Review.


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

First Author: Buchanan A

Category: Clinical Implementation , Evidence/Outcomes

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

First Author: Guo C

Category: Pharmacogenomics , Evidence for Genomic Medicine Implementation

May 13, 2020 - Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes 

First Author: Schonauer R

Category: Gene-Disease Validation , Risk Assessment/Prediction

March 31, 2020 - Pharmacogenomic-based decision-support to predict adherence to medications

First Author: Christian C

Category: Pharmacogenomics , Sequencing

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

First Author: Biswas S

Category: Clinical 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 26, 2020 - Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement

First Author: Stark Z

Category: Evidence for Genomic Medicine Implementation , Sequencing , Evidence/Outcomes

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

First Author: Nagano C

Category: Clinical Implementation , Sequencing


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

First Author: Bednar E

Category: Evidence for Genomic Medicine Implementation , Oncology

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 , Clinical Implementation

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

First Author: Khera, A

Category: Gene-Disease Validation

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

First Author: Dong, Z

Category: Sequencing

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

First Author: Middleton, P

Category: Gene-Disease Validation

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

First Author: Claassens, D

Category: Pharmacogenomics

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

First Author: Kim J

Category: Evidence for Genomic Medicine Implementation

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

First Author: Karam R

Category: Oncology , Risk Assessment/Prediction , Variant Interpretation

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

First Author: eMERGE Consortium

Category: Sequencing , Clinical Implementation

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

First Author: Shi, Y

Category: Pharmacogenomics , Clinical Implementation

August 05, 2019 - Pharmacogenomics.

First Author: Roden, D

Category: Pharmacogenomics , Clinical Implementation

Last updated: July 29, 2020