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

June 08, 2023 - Integrated multi-omics for rapid rare disease diagnosis on a national scale

First Author: Lunke S

Category: Pilot Implementation , Other

June 08, 2023 - Rapid WGS and a Targeted Neonatal Gene Panel in Infants with a Suspected Genetic Disorder

First Author: Maron JL

Category: Sequencing

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 21, 2023 - Anticipating adaptation: tracking the impact of planned and unplanned adaptations during the implementation of a complex population-based genomic screening program

First Author: Allen CG

Category: Resource

April 14, 2023 - An Introductory Tutorial on Cardiovascular Pharmacogenetics for Healthcare Providers

First Author: Oni-Orisan A

Category: Resource

April 14, 2023 - Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

First Author: Matalon DR

Category: Resource

April 12, 2023 - Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

First Author: Wright CF

Category: Impact/Outcomes

March 28, 2023 - Cases in Precision Medicine: Is There an Obligation to Return Reinterpreted Genetic Results to Former Patients?

First Author: Appelbaum PS

Category: Resource

March 27, 2023 - Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association

First Author: Landstrom AP

Category: Resource

March 16, 2023 - Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning

First Author: Peterson B

Category: Pilot Implementation

February 12, 2023 - Economic evaluation of population-based, expanded reproductive carrier screening for genetic diseases in Australia

First Author: Schofield D

Category: Resource

February 04, 2023 - A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study

First Author: Swen JJ

Category: Pharmacogenomics , Systematic Implementation

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

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: 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: Resource

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

First Author: Blout Zawatsky CL, Leonhard J

Category: 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: Resource , Pharmacogenomics

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: Resource

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 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

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: February 3, 2023