Accomplishments in Genomic Medicine

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

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

First Author: Blout Zawatsky CL

Category: Educational Resource

January 04, 2023 - Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

First Author: Dungan JS

Category: Educational Resource

2022

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: Educational Resource

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

First Author: Blout Zawatsky CL

Category: Educational 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: Educational 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 15, 2022 - Practice resource-focused revision: Standardized pedigree nomenclature update centered on sex and gender inclusivity: A practice resource of the National Society of Genetic Counselors

First Author: Bennett RL

Category: Educational Resource

September 07, 2022 - Population genomic screening of young adults for familial hypercholesterolaemia: a cost-effectiveness analysis

First Author: Marquina C

Category: Other

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: Educational Resource

August 17, 2022 - Discovering monogenic patients with a confirmed molecular diagnosis in millions of clinical notes with MonoMiner

First Author: Wu DW

Category: Pilot Implementation

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 - Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results

First Author: Sherafati A

Category: Risk Assessment/Prediction

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 04, 2022 - The Potential Value-Based Price of a Multi-Cancer Early Detection Genomic Blood Test to Complement Current Single Cancer Screening in the USA

First Author: Tafazzoli A

Category: Educational Resource

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 13, 2022 - Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods

First Author: Ferket BS

Category: Educational Resource

July 12, 2022 - Effect of Pharmacogenomic Testing for Drug-Gene Interactions on Medication Selection and Remission of Symptoms in Major Depressive Disorder: The PRIME Care Randomized Clinical Trial

First Author: Oslin DW

Category: Systematic Implementation , Pharmacogenomics

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 25, 2022 - A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research into Practice in a Healthcare System

First Author: Jones LK

Category: Systematic Implementation , Impact/Outcomes

Related Resources

cpicpgx.org

Clinical Pharmacogenetics Implementation Consortium (CPIC®) Guidelines

About NHGRI

Genomic Medicine Working Group

Research Funding

Division of Genomic Medicine

Last updated: February 3, 2023