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The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.

To submit notable accomplishments for consideration to the Genomic Medicine Working Group (GMWG), please email: GMWG@nih.gov.

The GMWG published a recent paper in the American Journal of Human Genetics, based on the notable accomplishments from this page: 2019 Genomic Medicine Year in Review.

Clinical Implementation


November: Trident-2: National implementation of genome-wide non-invasive prenatal testing as a first-tier screening test in the Netherlands

September: 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)

August: Opportunities, resources, and techniques for implementing genomics in clinical care

August: Genomic medicine for undiagnosed diseases

August: Family health history: underused for actionable risk assessment

August: Building evidence and measuring clinical outcomes for genomic medicine

June: The Genomic Medicine Integrative Research Framework: A conceptual framework for conducting genomic medicine research

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

April: Clinical use of current polygenic risk scores may exacerbate health disparities

March: Multi-site investigation of strategies for the clinical implementation of CYP2D6 genotyping to guide drug prescribing

March: Diagnostic utility of genome-wide DNA methylation testing in genetically unsolved individuals with suspected hereditary conditions


November: Qualitative study of system-level factors related to genomic implementation

October: Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

October: ClinGen's GenomeConnect registry enables patient-centered data sharing 

October: Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group 

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

October: Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease 

October: A logic model for precision medicine implementation informed by stakeholder views and implementation science 

October: A framework to build capacity for a reflex-testing program for Lynch syndrome 

October: Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia 

September: A model for genome-first care: Returning secondary genomic findings to participants and their healthcare providers in a large research cohort

September: Factors influencing NCGENES research participants' requests for non-medically actionable secondary findings 

September: Barriers to Lynch Syndrome Testing and Preoperative Result Availability in Early-onset Colorectal Cancer: a National Physician Survey Study 

July: Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network

May: Patient-centered precision health in a learning health care system: Geisinger's genomic medicine experience

April: Clinical outcomes and sustainability of using CYP2C19 genotype-guided antiplatelet therapy after percutaneous coronary intervention

April: Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

March: Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

March: Web platform vs in-person genetic counselor for return of carrier results from exome sequencing: a randomized clinical trial

January: The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study

January: Proposed outcomes measures for state public health genomic programs


November: Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience

November: Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

October: Use of exome sequencing for infants in intensive care units ascertainment of severe single-gene disorders and effect on medical management

September: Developing a common framework for evaluating the implementation of genomic medicine interventions in clinical care: the IGNITE Network's Common Measures Working Group

July: Multisite Investigation of outcomes with implementation of CYP2C19 genotype-guided antiplatelet therapy after percutaneous coronary intervention

July: Cascade screening for familial hypercholesterolemia and the use of genetic testing

June: Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup

June: The impact of whole-genome sequencing on the primary care and outcomes of healthy adult patients

May: Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing

May: Population-based impact of noninvasive prenatal screening on screening and diagnostic testing of fetal aneuploidy

March: A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

January: Resolution of disease phenotypes resulting from multilocus genomic variation

January: Application of whole exome sequencing in the clinical diagnosis and management of inherited cardiovascular diseases in adults

January: Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes

January: Promoting appropriate genetic testing: the impact of a combined test review and consultative service

January: Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement

January: Utilization of genetic tests: analysis of gene-specific billing in Medicare claims data


December: Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR Study

September: Clinical relevance of small copy-number variants in chromosomal microarray clinical testing

August: Genetic Misdiagnoses and the Potential for Health Disparities

June: Association Between CYP2C19 Loss-of-Function Allele Status and Efficacy of Clopidogrel for Risk Reduction Among Patients With Minor Stroke or Transient Ischemic Attack

April: A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

April: Near real-time monitoring of HIV transmission hotspots from routine HIV genotyping: an implementation case study

April: Pharmacogenetics for Safe Codeine Use in Sickle Cell Disease

March: A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders


June: ClinGen - the Clinical Genome Resource

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


November: Cost-effectiveness of returning incidental findings

August: State-based surveillance for selected hemoglobinopathies

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

February: Development and use of active clinical decision support for preemptive pharmacogenomics


April: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

July: Issues surrounding the health economic evaluation of genomic technologies



September: A genotype-guided strategy for oral P2Y12 inhibitors in primary PCI

August: Pharmacogenomics

July: Frequency and clinical outcomes of CYP2C19 genotype-guided escalation and de-escalation of antiplatelet therapy in a real-world clinical setting

July: Australian genomics: A federated model for integrating genomics into healthcare

June: A decision-theoretic approach to panel-based, preemptive genotyping


October: Multisite investigation of strategies for the implementation of CP2C19 genotype-guided antiplatelet therapy

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

September: Effects of Delivering SLCO1B1 Pharmacogenetic Information in Randomized Trial and Observational Settings

September: SLCO1B1 and Statin Therapy

July: Genotype-guided versus traditional clinical dosing of warfarin in patients of Asian ancestry: a randomized controlled trial

April: Association of HLA-A*31:01 screening with the incidence of Carbamazepine-induced cutaneous adverse reactions in a Japanese population


September: Effect of genotype-guided warfarin dosing on clinical events and anticoagulation control among patients undergoing hip or knee arthroplasty

September: β2-Adrenoreceptor is a regulator of the α-synuclein gene driving risk of Parkinson's disease

June: Tailoring of recommendations to reduce serious cutaneous adverse drug reactions: a pharmacogenomics approach


August: Disease-drug database for pharmacogenomic-based prescribing

September: Multidisciplinary model to implement pharmacogenomics at the point of care

June: Creating a scalable clinical pharmacogenomics service with automated interpretation and medical record result integration

March: PG4KDS: a model for the clinical implementation of pre-emptive pharmacogenetics

February: Pharmacogenetic allele nomenclature: international workgroup recommendations for test result reporting



August: Rates of actionable genetic findings in individuals with colorectal cancer or polyps ascertained from a community medical setting

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

February: Integrating Genomics into Oncology Practice

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


October: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

August: Analysis of plasma Epstein-Barr virus DNA to screen for nasopharyngeal cancer


August: 70-Gene Signature as an Aid to Treatment Decisions in Early-Stage Breast Cancer

February: Oncologists' and cancer patients' views on whole-exome sequencing and incidental findings: results from the CanSeq study


November: Prospective Validation of a 21-Gene Expression Assay in Breast Cancer

November: Practice guidelines for cancer predisposition

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

November: Precision Medicine in Breast Cancer Care

October: 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


October: Response and Acquired Resistance to Everolimus in Anaplastic Thyroid Cancer

August: Breast-Cancer Risk in Families with Mutations in PALB2

May: Using Multiplexed Assays of Oncogenic Drivers in Lung Cancers to Select Targeted Drugs

April: Multitarget Stool DNA Testing for Colorectal-Cancer Screening

April: Editorial: Stool DNA and Colorectal-Cancer Screening


June: Therapeutic Targeting of a Robust Non-Oncogene Addiction to PRKDC in ATM-Defective Tumors


October: Aspirin Use, Tumor PIK3CA Mutation, and Colorectal-Cancer Survival

September: Comprehensive molecular portraits of human breast tumours

September: Activity and safety of crizotinib in patients with ALK-positive non-small-cell lung cancer: updated results from a phase 1 study

August: Vemurafenib: a new treatment for BRAF-V600 mutated advanced melanoma

July: FDA Approval for Cetuximab: Approved for K-ras wild-type, EGFR-expressing Metastatic Colorectal Cancer

July: Genetic Gamble: New Approaches to Fighting Cancer

March: Intratumor heterogeneity and branched evolution revealed by multiregion sequencing


January: Massive genomic rearrangement acquired in a single catastrophic event during cancer development

March: Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

February: NT5E mutations and arterial calcifications



November: Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield 

October: Genome sequencing explores complexity of chromosomal abnormalities in recurrent miscarriage

August: Harmonizing clinical sequencing and interpretation for the eMERGE III Network

June: Reanalysis of clinical exome sequencing data

April: Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

January: Interpretation of genomic sequencing results in healthy and ill newborns: Results from the BabySeq project 

January: Diagnostic utility of exome sequencing for kidney disease 


September: Exome Sequencing-Based Screening for BRCA1/2Expected Pathogenic Variants Among Adult Biobank Participants

July: Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases


June: Development and validation of a whole-exome sequencing test for simultaneous detection of point mutations, indels and copy-number alterations for precision cancer care

June: Exome Sequencing and the Management of Neurometabolic Disorders

March: Outcome of whole exome sequencing for diagnostic odyssey cases of an individualized medicine clinic: the Mayo Clinic experience

February: Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability


December: Molecular diagnostic experience of whole-exome sequencing in adult patients

November: Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

April: Whole genome sequencing in critically ill newborns

April: Cell-free DNA Analysis for Noninvasive Examination of Trisomy


September: Genomic surveillance elucidates Ebola virus origin and transmission during the 2014 outbreak

July: Spread of Artemisinin Resistance in Plasmodium falciparum Malaria

June: Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing

February: DNA sequencing versus standard prenatal aneuploidy screening

February: Impact of Oophorectomy on Cancer Incidence and Mortality in Women With a BRCA1 or BRCA2 Mutation


October: Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

September: Actionable, Pathogenic Incidental Findings in 1,000 Participants' Exomes

February: Whole-genome sequencing for analysis of an outbreak of meticillin-resistant Staphylococcus aureus: a descriptive study


December: Diagnostic exome sequencing in persons with severe intellectual disability

October: Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

August: Tracking a hospital outbreak of carbapenem-resistant Klebsiella pneumoniae with whole-genome sequencing

June: Noninvasive whole-genome sequencing of a human fetus

March: Personal omics profiling reveals dynamic molecular and medical phenotypes


March: Universal noninvasive detection of solid organ transplant rejection

Disease-Based Findings


November: Rare genetic variants associated with sudden cardiac death

October: Elexacaftor-Tezacaftor-Ivacaftor for Cystic Fibrosis with a single Phe508del allele

June: Polygenic prediction of breast cancer: comparison of genetic predictors and implications for risk stratification


October: Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults

September: Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility 

April: Gene therapy in patients with transfusion-dependent β-thalassemia


May: Genetic and pharmacologic inactivation of ANGPTL3 and cardiovascular disease


December: Genetic identification of familial hypercholesterolemia within a single U.S. health care system

November: Genetic risk, adherence to a healthy lifestyle, and coronary disease


May: Lumacaftor-ivacaftor in patients with cystic fibrosis


July: Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease

June: Null Mutation in Hormone-Sensitive Lipase Gene and Risk of Type 2 Diabetes

March: Constitutive Activation of PKA Catalytic Subunit in Adrenal Cushing's Syndrome

February: Genetic Variants in C5 and Poor Response to Eculizumab

January: Variant GADL1 and Response to Lithium Therapy in Bipolar I Disorder


October:HLA-B*13:01 and the Dapsone Hypersensitivity Syndrome

September: A Host-Based RT-PCR Gene Expression Signature to Identify Acute Respiratory Viral Infection


February: Truncations of titin causing dilated cardiomyopathy


November: A CFTR potentiator in patients with cystic fibrosis and the G551D mutation

August: Computational repositioning of the anticonvulsant topiramate for inflammatory bowel disease

Last updated: January 1, 2020