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.

2018

August 08, 2018 - Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations

First Author: Pujol P

Category: Resource

August 07, 2018 - Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

First Author: Renard M

Category: Gene-Disease Validation

July 24, 2018 - Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults

First Author: Inouye, M

Category: Risk Assessment/Prediction

July 12, 2018 - Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network

First Author: Levy K

Category: Systematic Implementation

July 10, 2018 - Genotype-guided versus traditional clinical dosing of warfarin in patients of Asian ancestry: a randomized controlled trial.

First Author: Syn, N

Category: Pharmacogenomics

July 09, 2018 - Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

First Author: Clark, M

Category: Sequencing

July 01, 2018 - Association of HLA-A*31:01 Screening With the Incidence of Carbamazepine-Induced Cutaneous Adverse Reactions in a Japanese Population

First Author: Mushiroda, T

Category: Pharmacogenomics

June 29, 2018 - Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

First Author: Hosseini S

Category: Gene-Disease Validation

June 01, 2018 - Interdisciplinary Models for Research and Clinical Endeavors in Genomic Medicine: A Scientific Statement From the American Heart Association

First Author: Musunuru K

Category: Resource

May 07, 2018 - Patient-Centered Precision Health In A Learning Health Care System: Geisinger’s Genomic Medicine Experience

First Author: Williams M

Category: Systematic Implementation

April 19, 2018 - Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia

First Author: Thompson, A

Category: Other

April 16, 2018 - Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group

First Author: Taylor A

Category: Resource

April 04, 2018 - Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.

First Author: Farnaes L

Category: Sequencing , Impact/Outcomes

April 03, 2018 - Clinical Outcomes and Sustainability of Using CYP2C19 Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention

First Author: Lee C

Category: Pharmacogenomics

March 16, 2018 - Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

First Author: Bastarache L

Category: Risk Assessment/Prediction

January 30, 2018 - Multisite Investigation of Strategies for the Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy.

First Author: Empey, P

Category: Pharmacogenomics , Systematic Implementation

January 22, 2018 - Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical Trial

First Author: Biesecker B

Category: Pilot Implementation

January 04, 2018 - Proposed outcomes measures for state public health genomic programs

First Author: Doyle D

Category: Impact/Outcomes , Systematic Implementation

January 04, 2018 - The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.

First Author: Dragojlovic N

Category: Sequencing , Impact/Outcomes

2017

December 04, 2017 - Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

First Author: Meng L

Category: Sequencing , Undiagnosed Diseases

November 02, 2017 - Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

First Author: Nambot S

Category: Sequencing , Undiagnosed Diseases

November 02, 2017 - Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience.

First Author: Hu X

Category: Sequencing

November 01, 2017 - Multi-site Investigation of Outcomes with Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy after Percutaneous Coronary Intervention

First Author: Cavallari L

Category: Pharmacogenomics , Systematic Implementation

October 26, 2017 - Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

First Author: Buchanan, A

Category: Risk Assessment/Prediction

September 26, 2017 - Effect of Genotype-Guided Warfarin Dosing on Clinical Events and Anticoagulation Control Among Patients Undergoing Hip or Knee Arthroplasty: The GIFT Randomized Clinical Trial

First Author: Gage, B

Category: Pharmacogenomics

September 14, 2017 - Developing a common framework for evaluating the implementation of genomic medicine interventions in clinical care: the IGNITE Network’s Common Measures Working Group

First Author: Orlando L

Category: Systematic Implementation

September 01, 2017 - β2-Adrenoreceptor is a regulator of the α-synuclein gene driving risk of Parkinson’s disease

First Author: Mittal, S

Category: Other

August 10, 2017 - Analysis of plasma Epstein-Barr virus DNA to screen for nasopharyngeal cancer

First Author: Chan, K

Category: Risk Assessment/Prediction

July 27, 2017 - The impact of whole genome sequencing on the primary care and outcomes of healthy adult patients: A pilot randomized trial

First Author: Vassy J

Category: Sequencing , Systematic Implementation

July 25, 2017 - Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing

First Author: Knowles J

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: December 10, 2023