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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.


October 31, 2023 - CRISPR-Cas9 Editing of the HBG1 and HBG2 Promoters to Treat Sickle Cell Disease

First Author: Sharma A

Category: Other

August 28, 2023 - Cell-free DNA methylome analysis for early preeclampsia prediction

First Author: De Borre M

Category: Risk Assessment/Prediction

August 03, 2023 - Beyond the exome: What's next in diagnostic testing for Mendelian conditions

First Author: Wojcik MH

Category: Resource

July 16, 2023 - Implementation of precision medicine in healthcare - A European perspective

First Author: Stenzinger A

Category: Resource

June 08, 2023 - Rapid WGS and a Targeted Neonatal Gene Panel in Infants with a Suspected Genetic Disorder

First Author: Maron JL

Category: Sequencing

June 08, 2023 - Integrated multi-omics for rapid rare disease diagnosis on a national scale

First Author: Lunke S

Category: Pilot Implementation , Undiagnosed Diseases

May 09, 2023 - Population Genomic Screening for Three Common Hereditary Conditions: A Cost-Effectiveness Analysis

First Author: Guzauskas GS

Category: Risk Assessment/Prediction , Other

May 09, 2023 - Genomic profiling informs diagnoses and treatment in vascular anomalies

First Author: Li D

Category: Impact/Outcomes

May 08, 2023 - Ordering genetic testing by neurologists: points to consider

First Author: Fellner A

Category: Resource

April 14, 2023 - An Introductory Tutorial on Cardiovascular Pharmacogenetics for Healthcare Providers

First Author: Oni-Orisan A

Category: Resource

April 12, 2023 - Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

First Author: Wright CF

Category: Impact/Outcomes

January 28, 2023 - Insurance denials and diagnostic rates in a pediatric genomic research cohort

First Author: Zion T

Category: Resource

January 04, 2023 - Elective genomic testing: Practice resource of the National Society of Genetic Counselors

First Author: Blout Zawatsky CL

Category: Resource


December 01, 2022 - Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

First Author: McKnight D

Category: Impact/Outcomes

December 01, 2022 - Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions

First Author: Hoskovec J

Category: Risk Assessment/Prediction

November 23, 2022 - Development of Competency-based Online Genomic Medicine Training (COGENT)

First Author: Haga SB

Category: Resource

November 19, 2022 - Workforce Considerations When Building a Precision Medicine Program

First Author: Blout Zawatsky CL, Leonhard J

Category: Resource

November 07, 2022 - Systematic comparison of family history and polygenic risk across 24 common diseases

First Author: Mars N

Category: Risk Assessment/Prediction , Other

September 28, 2022 - A Cross-Reference of PGx Drug-Gene Association Listings in FDA’s Table of Pharmacogenetic Associations and CPIC Clinical Guidelines

First Author: Manchester University 

Category: Resource , Pharmacogenomics

September 15, 2022 - Impact of integrating genomic data into the electronic health record on genetics care delivery

First Author: Lau-Min KS

Category: Pilot Implementation

Last updated: October 27, 2023