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.

2017

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 - 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 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 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

August 25, 2016 - 70-Gene Signature as an Aid to Treatment Decisions in Early-Stage Breast Cancer

First Author: Cardosa, F

Category: Risk Assessment/Prediction

August 18, 2016 - Genetic Misdiagnoses and the Potential for Health Disparities

First Author: Manrai A

Category: Variant Classification , Health Disparities

July 20, 2016 - Development and validation of a whole-exome sequencing test for simultanious detection of point mutations, indels and copy-number alterations for precision cancer care

First Author: Rennert, H

Category: Sequencing , Oncology

July 05, 2016 - Association Between CYP2C19 Loss-of-Function Allele Status and Efficacy of Clopidogrel for Risk Reduction Among Patients With Minor Stroke or Transient Ischemic Attack

First Author: Wang Y

Category: Pharmacogenomics , Impact/Outcomes , Systematic Implementation

July 01, 2016 - Pharmacogenetics for Safe Codeine Use in Sickle Cell Disease

First Author: Gammal R

Category: Systematic Implementation , Pharmacogenomics

June 14, 2016 - Creating a scalable clinical pharmacogenomics service with automated interpretation and medical record result integration - experience from a pediatric tertiary care facility.

First Author: Manzi, S

Category: Pharmacogenomics , Systematic Implementation , Systematic Implementation

May 25, 2016 - Exome Sequencing and the Management of Neurometabolic Disorders

First Author: Tarailo-Graovac, M

Category: Sequencing

April 28, 2016 - A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

First Author: Hunter J

Category: Impact/Outcomes

April 07, 2016 - Near real-time monitoring of HIV transmission hotspots from routine HIV genotyping: an implementation case study

First Author: Poon A

Category: Systematic Implementation , Other

March 03, 2016 - Disease–drug database for pharmacogenomic‐based prescribing

First Author: Hussain, S

Category: Pilot Implementation , Pharmacogenomics , Systematic Implementation

March 03, 2016 - A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

First Author: Stark Z

Category: Sequencing

February 11, 2016 - Oncologists' and cancer patients' views on whole-exome sequencing and incidental findings: results from the CanSeq study

First Author: Gray, S

Category: Sequencing

Related Resources

cpicpgx.org

Clinical Pharmacogenetics Implementation Consortium (CPIC®) Guidelines

About NHGRI

Genomic Medicine Working Group

Research Funding

Division of Genomic Medicine

Last updated: December 10, 2023