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.

2019

July 03, 2019 - Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.

First Author: Stark, Z

Category: Systematic Implementation , Undiagnosed Diseases , Sequencing

June 20, 2019 - Reanalysis of Clinical Exome Sequencing Data

First Author: Liu, P

Category: Sequencing , Systematic Implementation

June 12, 2019 - Delivering genomic medicine in the United Kingdom National Health Service: a systematic review and narrative synthesis

First Author: Pearce C

Category: Systematic Implementation

June 10, 2019 - Polygenic prediction of breast cancer: comparison of genetic predictors and implications for risk stratification

First Author: Lall, K

Category: Oncology , Risk Assessment/Prediction

June 06, 2019 - Estimating the effectiveness of DPYD genotyping in Italian individuals suffering from cancer based on the cost of chemotherapy-induced toxicity

First Author: Fragoulakis, V

Category: Impact/Outcomes , Pharmacogenomics

June 04, 2019 - Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines

First Author: Burke W

Category: Resource

May 21, 2019 - Cases in Precision Medicine: The Role of Pharmacogenetics in Precision Prescribing

First Author: Lin B

Category: Resource

May 16, 2019 - The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research

First Author: Horowitz C

Category: Systematic Implementation , Impact/Outcomes , Other

May 14, 2019 - Cases in Precision Medicine: Genetic Assessment After a Sudden Cardiac Death in the Family

First Author: Laracuente R

Category: Resource

May 07, 2019 - Cases in Precision Medicine: Concerns About Privacy and Discrimination After Genomic Sequencing

First Author: Stiles D

Category: Resource

April 30, 2019 - Cases in Precision Medicine: When Patients Present With Direct-to-Consumer Genetic Test Results

First Author: Artin MG

Category: Resource

April 29, 2019 - Diagnosis of Genetic Diseases in Seriously Ill Children by Rapid Whole - Genome Sequencing and Automated Phenotyping and Interpretation

First Author: Clark, M

Category: Sequencing , Systematic Implementation

April 09, 2019 - Genetic testing and results in a population-based cohort of breast cancer patients and ovarian cancer patients

First Author: Kurian, A

Category: Health Disparities

March 29, 2019 - Clinical use of current polygenic risk scores may exacerbate health disparities

First Author: Martin A

Category: Health Disparities , Risk Assessment/Prediction

March 28, 2019 - Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

First Author: Aref-Eshghi E

Category: Undiagnosed Diseases

March 21, 2019 - ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

First Author: DiStefano M

Category: Gene-Disease Validation

March 21, 2019 - Multi-site investigation of strategies for the clinical implementation of CYP2D6 genotyping to guide drug prescribing.

First Author: Cavallari L

Category: Systematic Implementation , Pharmacogenomics

January 25, 2019 - Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

First Author: Ingles J

Category: Gene-Disease Validation

January 24, 2019 - Integrating Genomics into Oncology Practice

First Author: Flynn, S

Category: Systematic Implementation

January 03, 2019 - Interpretation of Genomic Sequencing Results in Health and Ill Newborns: Results from the BabySeq Project

First Author: Ceyhan-Birsoy, O

Category: Sequencing

January 03, 2019 - Integrating Genomics into Healthcare: A Global Responsibility

First Author: Stark Z

Category: Resource

2018

December 26, 2018 - Diagnostic Utility of Exome Sequencing for Kidney Disease

First Author: Groopman, E

Category: Sequencing

December 07, 2018 - Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

First Author: Seifert B

Category: Gene-Disease Validation

December 03, 2018 - Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels

First Author: Lee K

Category: Gene-Disease Validation

November 23, 2018 - Qualitative study of system-level factors related to genomic implementation

First Author: Zebrowski A

Category: Systematic Implementation

October 23, 2018 - A logic model for precision medicine implementation informed by stakeholder views and implementation science

First Author: Chanfreau-Coffiniear C

Category: Systematic Implementation

October 22, 2018 - A framework to build capacity for a reflex-testing program for Lynch syndrome

First Author: Palter V

Category: Systematic Implementation , Oncology

October 16, 2018 - Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions

First Author: Sulev, R

Category: Pharmacogenomics , Systematic Implementation

October 11, 2018 - The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants

First Author: Wain K

Category: Variant Classification

October 11, 2018 - ClinGen's GenomeConnect registry enables patient‐centered data sharing

First Author: Savatt J

Category: Variant Classification

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