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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.

2023

November 28, 2023 - Personalized medicine in a community health system: the NorthShore experience

First Author: David SP

Category: Resource

November 09, 2023 - Actionable genotypes and their association with lifespan in Iceland

First Author: Jensson BO

Category: Resource

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

First Author: Sharma A

Category: Other

October 02, 2023 - Testing and management of iron overload after genetic screening-identified hemochromatosis

First Author: Savatt JM

Category: Impact/Outcomes

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

Last updated: December 10, 2023