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.

2020

October 26, 2020 - Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

First Author: Amendola L

Category: Variant Classification

October 13, 2020 - A Tutorial for Pharmacogenomics Implementation through End-to-end Clinical Decision Support Based on Ten Years of Experience from PREDICT

First Author: Liu M

Category: Resource , Pharmacogenomics

October 05, 2020 - Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer

First Author: Wong M

Category: Oncology

October 01, 2020 - Cost-effectiveness of Population-Wide Genomic Screening for Hereditary Breast and Ovarian Cancer in the United States

First Author: Guzauskas G

Category: Impact/Outcomes , Oncology , Risk Assessment/Prediction

September 07, 2020 - Genomic copy number predicts esophageal cancer years before transformation

First Author: Killcoyne S

Category: Risk Assessment/Prediction

August 25, 2020 - Effect of Genotype-Guided Oral P2Y12 Inhibitor Selection vs Conventional Clopidogrel Therapy on Ischemic Outcomes after Percutaneous Coronary Intervention: The TAILOR-PCI Randomized Clinical Trial

First Author: Pereira N

Category: Pharmacogenomics

August 20, 2020 - Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

First Author: Fahed A

Category: Risk Assessment/Prediction

August 17, 2020 - When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation

First Author: Basel-Salmon L

Category: Variant Classification

August 10, 2020 - The Role of Exome Sequencing in Newborn Screening for Inborn Errors of Metabolism

First Author: Adhikari A

Category: Pilot Implementation , Sequencing

August 07, 2020 - A Combined Risk Score Enhances Prediction of Type 1 Diabetes among Susceptible Children

First Author: Ferrat L

Category: Pilot Implementation , Risk Assessment/Prediction

July 27, 2020 - Population Genetic Screening Efficiently Identifies Carriers of Autosomal Dominant Diseases

First Author: Grzymski JJ

Category: Risk Assessment/Prediction

July 22, 2020 - Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population

First Author: Martin CL

Category: Pilot Implementation , Variant Classification

July 02, 2020 - Management of Secondary Genomic Findings

First Author: Katz A

Category: Resource

June 30, 2020 - Clinical outcomes of a genomic screening program for actionable genetic conditions

First Author: Buchanan A

Category: Systematic Implementation , Impact/Outcomes

June 24, 2020 - Whole-genome Sequencing of Patients with Rare Diseases in a National Health System

First Author: Turro E

Category: Systematic Implementation , Sequencing

June 17, 2020 - Frequency of Genomic Secondary Findings among 21,915 eMERGE Network Participants

First Author: Gordon A

Category: Secondary Findings

June 08, 2020 - Genotype-Guided Dosing of Warfarin in Chinese Adults: A Multicenter Randomized Clinical Trial

First Author: Guo C

Category: Pharmacogenomics , Pilot Implementation

June 01, 2020 - The interface of genomic information with the electronic health record: a point to consider statement of the American College of Medical Genetics and Genomics (ACMG)

First Author: Grebe T

Category: Resource

May 14, 2020 - Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

First Author: Deignan, J

Category: Resource

May 14, 2020 - CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

First Author: Deignan, J

Category: Resource

May 13, 2020 - Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes

First Author: Schonauer R

Category: Gene-Disease Validation , Risk Assessment/Prediction

May 06, 2020 - Returning genomic results in a Federally Qualified Health Center: the intersection of precision medicine and social determinants of health

First Author: Shaibi G

Category: Health Disparities , Sequencing

April 30, 2020 - Positive impact of genetic counseling assistants on genetic counseling efficiency, patient volume, and cost in a cancer genetics clinic

First Author: Hallquist M

Category: Impact/Outcomes

April 23, 2020 - Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

First Author: Li M

Category: Resource

April 21, 2020 - The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

First Author: Riley L

Category: Sequencing

April 16, 2020 - Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

First Author: Del Gaudio D

Category: Resource

April 11, 2020 - Understanding access to genomics in an ethnically diverse south Florida population: A comparison of demographics in odyssey and rapid whole genome sequencing programs

First Author: Hussain S

Category: Health Disparities , Sequencing

April 01, 2020 - Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome with Disease Risk in Adults According to Family History

First Author: Patel A

Category: Variant Classification

March 31, 2020 - Pharmacogenomic-based decision-support to predict adherence to medications

First Author: Christian C

Category: Pharmacogenomics , Sequencing

March 23, 2020 - Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

First Author: Malinowski J

Category: Impact/Outcomes , 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: September 11, 2024