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.

2024

October 01, 2024 - Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS

First Author: Yin X

Category: Resource

September 25, 2024 - Gene Therapy with Fidanacogene Elaparvovec in Adults with Hemophilia B

First Author: Cuker A

Category: Pilot Implementation

September 02, 2024 - Plozasiran for Managing Persistent Chylomicronemia and Pancreatitis Risk

First Author: Watts G

Category: Pilot Implementation , Other

August 09, 2024 - Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

First Author: Parsons MT

Category: Risk Assessment/Prediction , Oncology

July 30, 2024 - A national education program for rapid genomics in pediatric acute care: building workforce confidence, competence and capability

First Author: McCorkell G

Category: Resource

July 22, 2024 - Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

First Author: Schmidt A

Category: Pilot Implementation , Undiagnosed Diseases

July 19, 2024 - Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group

First Author: Franceschini N

Category: Resource

July 13, 2024 - Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals

First Author: Galer P

Category: Risk Assessment/Prediction

July 02, 2024 - Benefits for children with suspected cancer from routine whole-genome sequencing

First Author: Hodder A

Category: Impact/Outcomes , Oncology

June 05, 2024 - The impact of clinical genome sequencing in a global population with suspected rare genetic disease

First Author: Thorpe E

Category: Impact/Outcomes

June 03, 2024 - Validation of a clinical breast cancer risk assessment tool combining a polygenic score for all ancestries with traditional risk factors

First Author: Mabey B

Category: Risk Assessment/Prediction

May 08, 2024 - The translational gap for gene therapies in low- and middle-income countries

First Author: Doxzen KW

Category: Resource

May 06, 2024 - Gene Editing for CEP290-Associated Retinal Degeneration

First Author: Pierce EA

Category: Other

April 01, 2024 - Application of implementation science for improving the utilization of an international clinical practice guidance on familial hypercholesterolemia

First Author: Jones LK

Category: Resource

March 02, 2024 - The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing

First Author: Li S

Category: Pilot Implementation

February 27, 2024 - Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review

First Author: Kingsmore SF

Category: Resource

February 19, 2024 - Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations

First Author: Lennon N

Category: Other

January 18, 2024 - Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases

First Author: Kerkhof J

Category: Undiagnosed Diseases

January 01, 2024 - Evaluation of malignant hyperthermia features in patients with pathogenic or likely pathogenic RYR1 variants disclosed through a population genomic screening program

First Author: Yu KD

Category: Pilot Implementation

2023

December 07, 2023 - The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families

First Author: Suckiel SA

Category: Pilot Implementation

November 28, 2023 - Personalized medicine in a community health system: the NorthShore experience

First Author: David SP

Category: Resource

November 09, 2023 - Actionable genotypes and their association with lifespan in Iceland

First Author: Jensson BO

Category: Resource

October 31, 2023 - CRISPR-Cas9 Editing of the HBG1 and HBG2 Promoters to Treat Sickle Cell Disease

First Author: Sharma A

Category: Other

October 27, 2023 - Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program

First Author: Berkalieva A

Category: Other

October 02, 2023 - Testing and management of iron overload after genetic screening-identified hemochromatosis

First Author: Savatt JM

Category: Impact/Outcomes

August 28, 2023 - Cell-free DNA methylome analysis for early preeclampsia prediction

First Author: De Borre M

Category: Risk Assessment/Prediction

August 03, 2023 - Beyond the exome: What's next in diagnostic testing for Mendelian conditions

First Author: Wojcik MH

Category: Resource

July 30, 2023 - The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

First Author: Rehm HL

Category: Resource

July 16, 2023 - Implementation of precision medicine in healthcare - A European perspective

First Author: Stenzinger A

Category: Resource

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

First Author: Lunke S

Category: Pilot Implementation , Undiagnosed Diseases

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