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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.


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: Educational Resource , Pharmacogenomics

August 12, 2022 - Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment

First Author: Yurgelun MB

Category: Educational Resource

August 11, 2022 - Environmental scan of family chart linking for genetic cascade screening in a U.S. integrated health system

First Author: Haas CB

Category: Educational Resource

August 10, 2022 - Measures of Utility Among Studies of Genomic Medicine for Critically Ill Infants

First Author: Callahan KP

Category: Educational Resource

August 09, 2022 - Use of eConsult to enhance genetics service delivery in primary care: a multimethod study

First Author: Carroll JC

Category: Pilot Implementation

August 01, 2022 - Universal screening for familial hypercholesterolemia in 2 populations

First Author: Sustar U

Category: Impact/Outcomes

July 25, 2022 - Genetic risk score enhances the risk prediction of severe obesity in adult survivors of childhood cancer

First Author: Sapkota Y

Category: Risk Assessment/Prediction

July 19, 2022 - Recommendations for clinical interpretation of variants found in non-coding regions of the genome

First Author: Ellingford JM

Category: Educational Resource

July 15, 2022 - Advancing precision medicine for ocular disorders: Diagnostic genomics to tailored therapies

First Author: Panikker P

Category: Educational Resource

July 07, 2022 - Digital health-enabled genomics: Opportunities and challenges

First Author: Bombard Y

Category: Educational Resource

June 29, 2022 - Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations

First Author: Ge T

Category: Educational Resource , Risk Assessment/Prediction

June 16, 2022 - Genome-wide polygenic score to predict chronic kidney disease across ancestries

First Author: Khan A

Category: Risk Assessment/Prediction

May 16, 2022 - Challenges and Opportunities for Developing More Generalizable Polygenic Risk Scores

First Author: Wang Y

Category: Educational Resource , Risk Assessment/Prediction

March 21, 2022 - Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive Care

First Author: McDermott JH

Category: Pilot Implementation , Impact/Outcomes

March 15, 2022 - Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

First Author: Cohen A

Category: Undiagnosed Diseases

March 04, 2022 - Effects of Testing and Disclosing Ancestry-Specific Genetic Risk for Kidney Failure on Patients and Health Care Professionals: A Randomized Clinical Trial

First Author: Nadkarni GN

Category: Risk Assessment/Prediction , Pilot Implementation

February 25, 2022 - Cost-effectiveness of population-wide genomic screening for Lynch syndrome in the United States

First Author: Guzauskas GF

Category: Risk Assessment/Prediction , Other

February 22, 2022 - The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network

First Author: Leppig KA

Category: Sequencing , Systematic Implementation

Last updated: October 2, 2022