Accomplishments in Genomic Medicine

The NHGRI Genomic Medicine Working Group (GMWG) compiles 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.

Genomic Medicine Year in Review

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

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: 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: 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: 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 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 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: 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: Resource

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

First Author: Panikker P

Category: 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: 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: 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 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

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

First Author: Wang Y

Category: Resource , Risk Assessment/Prediction

May 10, 2022 - Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics

First Author: Li MM

Category: Resource

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

March 01, 2022 - Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

First Author: Ibañez K

Category: Gene-Disease Validation , Undiagnosed Diseases

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 25, 2022 - Integration of stakeholder engagement from development to dissemination in genomic medicine research: Approaches and outcomes from the CSER Consortium

First Author: O'Daniel JM

Category: Resource

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

Related Resources

Clinical Pharmacogenetics Implementation Consortium (CPIC®) Guidelines

Genomic Medicine Working Group | NHGRI

Genomic Medicine Working Group

Double helix and doctor

Research Funding

Division of Genomic Medicine

Last updated: September 11, 2024