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.

2018

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 - 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 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 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

June 22, 2017 - Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup

First Author: Ko C

Category: Systematic Implementation

June 08, 2017 - Tailoring of recommendations to reduce serious cutaneous adverse drug reactions: a pharmacogenomics approach

First Author: Tan-Koi, W

Category: Pharmacogenomics , Systematic Implementation

May 24, 2017 - Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease

First Author: Dewey, F

Category: Gene-Disease Validation

May 18, 2017 - Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy

First Author: Hui L

Category: Systematic Implementation

May 04, 2017 - Electronic Health Record Phenotype in Subjects with Genetic Variants Associated with Arrhythmogenic Right Ventricular Cardiomyopathy: A Study in 30,716 Subjects with Exome Sequencing

First Author: Haggerty C

Category: Gene-Disease Validation

March 23, 2017 - A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

First Author: Vissers L

Category: Sequencing , Systematic Implementation , Other

January 26, 2017 - Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement

First Author: Stark Z

Category: Pilot Implementation , Sequencing , Impact/Outcomes

January 26, 2017 - tilization of genetic tests: analysis of gene-specific billing in Medicare claims data

First Author: Lynch J

Category: Systematic Implementation

January 26, 2017 - Promoting appropriate genetic testing: the impact of a combined test review and consultative service

First Author: Suarez C

Category: Systematic Implementation

January 19, 2017 - Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes

First Author: Muramatsu H

Category: Sequencing

January 13, 2017 - Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults

First Author: Seidelmann S

Category: Sequencing

2016

December 23, 2016 - Genetic identification of familial hyercholesterolemia within a single U.S. health care system

First Author: Abul-Husn, N

Category: Gene-Disease Validation

December 23, 2016 - Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR Study

First Author: Dewey F

Category: Systematic Implementation

December 07, 2016 - Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

First Author: Posey J

Category: Sequencing

November 17, 2016 - ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

First Author: Kalia S

Category: Resource

November 13, 2016 - Genetic Risk, Adherence to a Heahtly Lifestyle, and Coronary Disease

First Author: Khera, A

Category: Risk Assessment/Prediction

September 22, 2016 - Multidisciplinary model to implement pharmacogenomics at the point of care.

First Author: Caraballo, P

Category: Pharmacogenomics , Systematic Implementation , Systematic Implementation

September 15, 2016 - Clinical relevance of small copy-number variants in chromosomal microarray clinical testing

First Author: Hollenbeck D

Category: Systematic Implementation , Pilot Implementation

Related Resources

cpicpgx.org

Clinical Pharmacogenetics Implementation Consortium (CPIC®) Guidelines

About NHGRI

Genomic Medicine Working Group

Research Funding

Division of Genomic Medicine

Last updated: September 11, 2024