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.

2019

October 29, 2019 - Genomic information for clinicians in the electronic health record: Lessons learned from the Clinical Genome Resource project and the Electronic Medical Records and Genomics network

First Author: Williams M

Category: Resource

October 24, 2019 - A Genotype-Guided Strategy for Oral P2Y12 Inhibitors in Primary PCI

First Author: Claassens, D

Category: Pharmacogenomics

October 22, 2019 - Cases in Precision Medicine: The Role of Tumor and Germline Genetic Testing in Breast Cancer Management

First Author: Tischler J

Category: Resource

October 15, 2019 - Cases in Precision Medicine: A Personalized Approach to Stroke and Cardiovascular Risk Assessment in Women

First Author: Bello NA

Category: Resource

October 09, 2019 - Patient-customized oligonucleotide therapy for a rare genetic disease

First Author: Kim J

Category: Pilot Implementation

October 08, 2019 - Cases in Precision Medicine: APOL1 and Genetic Testing in the Evaluation of Chronic Kidney Disease and Potential Transplant

First Author: Neugut YD

Category: Resource

October 02, 2019 - Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer

First Author: Karam R

Category: Oncology , Risk Assessment/Prediction , Variant Classification

October 01, 2019 - Cases in Precision Medicine: Should You Participate in a Study Involving Genomic Sequencing of Your Patients?

First Author: Appelbaum PS

Category: Resource

September 10, 2019 - Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS)

First Author: Trosman J

Category: Sequencing , Impact/Outcomes , Systematic Implementation

August 22, 2019 - Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

First Author: eMERGE Consortium

Category: Sequencing , Systematic Implementation

August 17, 2019 - A Decision-Theoretic Approach to Panel-Based, Preemptive Genotyping.

First Author: Shi, Y

Category: Pharmacogenomics , Systematic Implementation

August 15, 2019 - Rates of actionable genetic findings in individuals with colorectal cancer or polyps ascertained from a community medical setting

First Author: Gordon, A

Category: Risk Assessment/Prediction

August 05, 2019 - Pharmacogenomics

First Author: Roden D

Category: Resource

August 05, 2019 - Family health history: underused for actionable risk assessment

First Author: Ginsburg G

Category: Resource

August 05, 2019 - Opportunities, resources, and techniques for implementing genomics in clinical care

First Author: Manolio T

Category: Resource

August 05, 2019 - Building evidence and measuring clinical outcomes for genomic medicine

First Author: Peterson J

Category: Resource

August 05, 2019 - Genomic medicine for undiagnosed diseases

First Author: Wise A

Category: Resource

July 18, 2019 - Frequency and clinical outcomes of CYP2C19 genotype-guided escalation and de-escalation of antiplatelet therapy in a real-world clinical setting.

First Author: Martin, J

Category: Pharmacogenomics

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

Related Resources

Clinical Pharmacogenetics Implementation Consortium (CPIC®) Guidelines

Genomic Medicine Working Group | NHGRI

Genomic Medicine Working Group

Double helix and doctor

Research Funding

Division of Genomic Medicine

Last updated: December 10, 2023