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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.

2022

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

September 01, 2022 - Outcomes of Gene Panel Testing for Sensorineural Hearing Loss in a Diverse Patient Cohort

First Author: Liao EN

Category: Impact/Outcomes , Health Disparities

September 01, 2022 - Addressing underrepresentation in genomics research through community engagement

First Author: Lemke AA

Category: Resource

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

First Author: Yurgelun MB

Category: Resource

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

First Author: Callahan KP

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

First Author: Panikker P

Category: Resource

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

First Author: Bombard Y

Category: 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: 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: 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 08, 2022 - Real-World Impact of a Pharmacogenomics-Enriched Comprehensive Medication Management Program

First Author: Jarvis J

Category: Systematic Implementation , Pharmacogenomics

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

Last updated: December 10, 2023