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.

2020

June 17, 2020 - Frequency of Genomic Secondary Findings among 21,915 eMERGE Network Participants

First Author: Gordon A

Category: Secondary Findings

June 08, 2020 - Genotype-Guided Dosing of Warfarin in Chinese Adults: A Multicenter Randomized Clinical Trial

First Author: Guo C

Category: Pharmacogenomics , Pilot Implementation

June 01, 2020 - The interface of genomic information with the electronic health record: a point to consider statement of the American College of Medical Genetics and Genomics (ACMG)

First Author: Grebe T

Category: Resource

May 14, 2020 - CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

First Author: Deignan, J

Category: Resource

May 14, 2020 - Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

First Author: Deignan, J

Category: Resource

May 13, 2020 - Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes

First Author: Schonauer R

Category: Gene-Disease Validation , Risk Assessment/Prediction

May 06, 2020 - Returning genomic results in a Federally Qualified Health Center: the intersection of precision medicine and social determinants of health

First Author: Shaibi G

Category: Health Disparities , Sequencing

April 30, 2020 - Positive impact of genetic counseling assistants on genetic counseling efficiency, patient volume, and cost in a cancer genetics clinic

First Author: Hallquist M

Category: Impact/Outcomes

April 23, 2020 - Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

First Author: Li M

Category: Resource

April 21, 2020 - The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

First Author: Riley L

Category: Sequencing

April 16, 2020 - Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

First Author: Del Gaudio D

Category: Resource

April 11, 2020 - Understanding access to genomics in an ethnically diverse south Florida population: A comparison of demographics in odyssey and rapid whole genome sequencing programs

First Author: Hussain S

Category: Health Disparities , Sequencing

April 01, 2020 - Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome with Disease Risk in Adults According to Family History

First Author: Patel A

Category: Variant Classification

March 31, 2020 - Pharmacogenomic-based decision-support to predict adherence to medications

First Author: Christian C

Category: Pharmacogenomics , Sequencing

March 23, 2020 - Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

First Author: Malinowski J

Category: Impact/Outcomes , Sequencing

March 06, 2020 - Pioneering Informed Consent for Return of Research Results to Breast Cancer Patients Facing Barriers to Implementation of Genomic Medicine: The Kenyan BRCA1/2 Testing Experience Using Whole Exome Sequencing

First Author: Torrorey-Sawe R

Category: Health Disparities , Systematic Implementation

March 01, 2020 - A Centralized Approach for Practicing Genomic Medicine

First Author: Biswas S

Category: Systematic Implementation

January 27, 2020 - An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome

First Author: Adler A

Category: Gene-Disease Validation

January 14, 2020 - Comprehensive genetic diagnosis of Japanese patients with severe proteinuria

First Author: Nagano C

Category: Systematic Implementation , Sequencing

2019

December 20, 2019 - Assessing relatives’ readiness for hereditary cancer cascade genetic testing

First Author: Bednar E

Category: Pilot Implementation , Oncology

December 19, 2019 - The African Genomic Medicine Training Initiative (AGMT): Showcasing a Community and Framework Driven Genomic Medicine Training for Nurses in Africa

First Author: Nembaware V

Category: Systematic Implementation

December 19, 2019 - Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort

First Author: Li H

Category: Variant Classification , Oncology

December 05, 2019 - TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

First Author: van der Meij K

Category: Systematic Implementation

November 29, 2019 - Prospective, Phenotype-Driven Selection of Critically Ill Neonates for Rapid Exome Sequencing Is Associated With High Diagnostic Yield

First Author: Gubbels, C

Category: Sequencing , Systematic Implementation

November 25, 2019 - Returning incidental findings in African genomics research

First Author: Wonkam A

Category: Resource

November 16, 2019 - Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

First Author: Bean L

Category: Resource

November 11, 2019 - Rare Genetic Variants Associated With Sudden Cardiac Death in Adults

First Author: Khera, A

Category: Gene-Disease Validation

November 06, 2019 - Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

First Author: Riggs E

Category: Resource

October 31, 2019 - Elexacaftor-Tezacaftor-Ivacaftor fo Cystic Fibrosis with a Single Phe508del Allele

First Author: Middleton, P

Category: Gene-Disease Validation

October 31, 2019 - Genome Sequencing Explore Complexity of Chromosomal Abnormalities in Recurrent Miscarriage

First Author: Dong, Z

Category: Sequencing

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: December 10, 2023