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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.


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

First Author: Fahed A

Category: Risk Assessment/Prediction

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

First Author: Adhikari A

Category: Evidence for Genomic Medicine Implementation , Sequencing

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

First Author: Ferrat L

Category: Evidence for Genomic Medicine 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: Evidence for Genomic Medicine Implementation , Variant Interpretation

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

First Author: Buchanan A

Category: Clinical Implementation , Evidence/Outcomes

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

First Author: Turro E

Category: Clinical 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 , 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 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

Last updated: July 29, 2020