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.

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.

2016

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 - 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

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

First Author: Hussain, S

Category: Pilot Implementation , Pharmacogenomics , Systematic Implementation

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

January 04, 2016 - Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

First Author: Monroe, G

Category: Sequencing , Systematic Implementation

January 03, 2016 - Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience

First Author: Lazaridis, K

Category: Sequencing

2015

December 03, 2015 - Molecular diagnostic experience of whole-exome sequencing in adult patients

First Author: Posey, J

Category: Sequencing

November 01, 2015 - Precision Medicine in Breast Cancer Care

First Author: Kurian, A

Category: Risk Assessment/Prediction

October 19, 2015 - Initiation of Universal Tumor Screening for Lynch Syndrome in Colorectal Cancer Patients as a Model for the Implementation of Genetic Information Into Clinical Oncology Practice

First Author: Cohen, S

Category: Systematic Implementation

September 27, 2015 - Prospective Validation of a 21-Gene Expression Assay in Breast Cancer

First Author: Sparano, J

Category: Risk Assessment/Prediction

September 27, 2015 - Association Between Use of the 21-Gene Recurrence Score Assay and Receipt of Chemotherapy Among Medicare Beneficiaries With Early-Stage Breast Cancer, 2005-2009

First Author: Dinan, M

Category: Risk Assessment/Prediction

May 27, 2015 - ClinGen - the Clinical Genome Resource

First Author: Rehm H

Category: Variant Classification

May 17, 2015 - Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR

First Author: Wainwright, C

Category: Pharmacogenomics

April 27, 2015 - Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

First Author: Willig, L

Category: Sequencing , Systematic Implementation

April 01, 2015 - Cell-free DNA Analysis for Noninvasive Examination of Trisomy

First Author: Norton, M

Category: Sequencing

March 12, 2015 - Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics

First Author: ACMG Board of Directors

Category: Resource

2014

November 13, 2014 - A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment

First Author: Hampel, H

Category: Resource

November 13, 2014 - The cost-effectiveness of returning incidental findings from next-generation genomic sequencing

First Author: Bennette C

Category: Secondary Findings , Other

October 09, 2014 - Response and Acquired Resistance to Everolimus in Anaplastic Thyroid Cancer

First Author: Wagle, N

Category: Pharmacogenomics

September 12, 2014 - Genomic surveillance elucidates Ebola virus origin and transmission during the 2014 outbreak

First Author: Gire, S

Category: Sequencing

August 14, 2014 - Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy

First Author: Audrézet M

Category: Systematic 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: October 8, 2024