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.

2016

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 - 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

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

First Author: Sparano, J

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 - The cost-effectiveness of returning incidental findings from next-generation genomic sequencing

First Author: Bennette C

Category: Secondary Findings , Other

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

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

August 07, 2014 - Breast-Cancer Risk in Families with Mutations in PALB2

First Author: Antoniou, A

Category: Risk Assessment/Prediction

July 31, 2014 - Spread of Artemisinin Resistance in Plasmodium falciparum Malaria

First Author: Ashley, E

Category: Pharmacogenomics

July 03, 2014 - Loss-of-function Mutations in APOC3, Triglycerides and Coronary Disease

First Author: TG and HDL Working Group of the Exome Sequencing Project

Category: Sequencing , Gene-Disease Validation

July 03, 2014 - State-based surveillance for selected hemoglobinopathies

First Author: Hulihan M

Category: Other , Systematic Implementation

June 04, 2014 - Actionable Diagnosis of Neuroleptospirosis by Next Generation Sequencing

First Author: Wilson, M

Category: Sequencing

May 21, 2014 - Using Multiplexed Assays of Oncogenic Drivers in Lung Cancers to Select Targeted Drugs

First Author: Kris, M

Category: Pharmacogenomics

May 21, 2014 - Null Mutation in Hormone-Sensitive Lipase Gene and Risk of Type 2 Diabetes

First Author: Albert, J

Category: Sequencing , Gene-Disease Validation

March 19, 2014 - Editorial: Stool DNA and Colorectal-Cancer Screening

First Author: Robertson, D

Category: Risk Assessment/Prediction

March 19, 2014 - Multitarget Stool DNA Testing for Colorectal-Cancer Screening

First Author: Imperiale, T

Category: Risk Assessment/Prediction

March 11, 2014 - PG4KDS: a model for the clinical implementation of pre-emptive pharmacogenetics.

First Author: Hoffman, J

Category: Pharmacogenomics , Systematic Implementation , Systematic Implementation

February 27, 2014 - DNA Sequencing verses Standard Prenatal SAneuploidy Screening

First Author: Bianchi, D

Category: Sequencing

February 26, 2014 - Constitutive Activation of PKA Catalytic Subunit in Adrenal Cushing's Syndrome

First Author: Beuschlein, F

Category: Sequencing , Gene-Disease Validation

February 24, 2014 - Impact of Oophorectomy on Cancer Incidence and Mortality in Women with a BRCA1 or BRCA2 Mutation

First Author: Finch, A

Category: Sequencing , Oncology

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