Notable Accomplishments in Genomic Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances in the realm of genomic medicine since 2011.
- Clinical Implementation
- Pharmacogenomics
- Oncology
- Sequencing
- Disease-based Findings
- Professional Guidelines and Policy
Clinical Implementation
2018
- May: Patient-centered precision health in a learning health care system: Geisinger's genomic medicine experience [healthaffairs.org]
- April: Clinical outcomes and sustainability of using CYP2C19 genotype-guided antiplatelet therapy after percutaneous coronary intervention [ncbi.nlm.nih.gov]
- April: Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization [nature.com]
- March: Phenotype risk scores identify patients with unrecognized Mendelian disease patterns [sciencemag.org]
- March: Web platform vs in-person genetic counselor for return of carrier results from exome sequencing: a randomized clinical trial [jama.jamanetwork.com]
- January: The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study[nature.com]
- January: Proposed outcomes measures for state public health genomic programs [nature.com]
2017
- 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 [nature.com]
- November: Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis [nature.com]
- October: Use of exome sequencing for infants in intensive care units ascertainment of severe single-gene disorders and effect on medical management [jamanetwork.com]
- September: Developing a common framework for evaluating the implementation of genomic medicine interventions in clinical care: the IGNITE Network's Common Measures Working Group [nature.com]
- July: Multisite Investigation of outcomes with implementation of CYP2C19 genotype-guided antiplatelet therapy after percutaneous coronary intervention [ncbi.nlm.nih.gov]
- July: Cascade screening for familial hypercholesterolemia and the use of genetic testing [jamanetwork.com]
- June: Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup [nature.com]
- June: The impact of whole-genome sequencing on the primary care and outcomes of healthy adult patients [annals.org]
- 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 [nature.com]
- May: Population-based impact of noninvasive prenatal screening on screening and diagnostic testing of fetal aneuploidy [nature.com]
- March: A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology [nature.com]
- January: Resolution of disease phenotypes resulting from multilocus genomic variation [nejm.org]
- January: Application of whole exome sequencing in the clinical diagnosis and management of inherited cardiovascular diseases in adults [circgenetics.ahajournals.org]
- January: Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes [nature.com]
- January: Promoting appropriate genetic testing: the impact of a combined test review and consultative service [nature.com]
- January: Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement [nature.com]
- January: Utilization of genetic tests: analysis of gene-specific billing in Medicare claims data [nature.com]
2016
- December: Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR Study[sciencemag.org]
- September: Clinical relevance of small copy-number variants in chromosomal microarray clinical testing [nature.com]
- August: Genetic Misdiagnoses and the Potential for Health Disparities [nejm.org]
- 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 [jama.jamanetwork.com]
- April: A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation[nature.com]
- April: Near real-time monitoring of HIV transmission hotspots from routine HIV genotyping: an implementation case study[thelancet.com]
- April: Pharmacogenetics for Safe Codeine Use in Sickle Cell Disease [pharmacist.com]
- March: A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders [nature.com]
2015
- June: ClinGen - the Clinical Genome Resource [ncbi.nlm.nih.gov]
- March: Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics [nature.com]
2014
- November: Cost-effectiveness of returning incidental findings [nature.com]
- August: State-based surveillance for selected hemoglobinopathies [nature.com]
- March: Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy [nature.com]
- February: Development and use of active clinical decision support for preemptive pharmacogenomics [jamia.bmj.com]
2013
- April: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing [nature.com]
- July: Issues surrounding the health economic evaluation of genomic technologies [ncbi.nlm.nih.gov]
Pharmacogenomics
2017
- September: Effect of genotype-guided warfarin dosing on clinical events and anticoagulation control among patients undergoing hip or knee arthroplasty [jamanetwork.com]
- September: β2-Adrenoreceptor is a regulator of the α-synuclein gene driving risk of Parkinson's disease [sciencemag.org]
- June: Tailoring of recommendations to reduce serious cutaneous adverse drug reactions: a pharmacogenomics approach[futuremedicine.com]
2016
- August: Disease-drug database for pharmacogenomic-based prescribing [onlinelibrary.wiley.com
- September: Caraballo, P. Multidisciplinary model to implement pharmacogenomics at the point of care [nature.com]
- June: Manzi, S. Creating a scalable clinical pharmacogenomics service with automated interpretation and medical record result integration [jamia.oxfordjournals.org]
- March: Hoffman, JM. PG4KDS: a model for the clinical implementation of pre-emptive pharmacogenetics [ncbi.nlm.nih.gov]
- February: Pharmacogenetic allele nomenclature: international workgroup recommendations for test result reporting [onlinelibrary.wiley.com]
Oncology
2017
- October: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants [nature.com]
- August: Analysis of plasma Epstein-Barr virus DNA to screen for nasopharyngeal cancer [nejm.org]
2016
- August: Cardoso, F. 70-Gene Signature as an Aid to Treatment Decisions in Early-Stage Breast Cancer [nejm.org]
- February: Oncologists' and cancer patients' views on whole-exome sequencing and incidental findings: results from the CanSeq study [nature.com]
2015
- November: Prospective Validation of a 21-Gene Expression Assay in Breast Cancer
- November: Practice guidelines for cancer predisposition [nature.com]
- 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 [oncology.jamanetwork.com]
- November: Precision Medicine in Breast Cancer Care [oncology.jamanetwork.com]
- 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 [onlinelibrary.wiley.com]
2014
- October: Response and Acquired Resistance to Everolimus in Anaplastic Thyroid Cancer [nejm.org]
- August: Breast-Cancer Risk in Families with Mutations in PALB2 [nejm.org]
- May: Using Multiplexed Assays of Oncogenic Drivers in Lung Cancers to Select Targeted Drugs [jama.jamanetwork.com]
- April: Multitarget Stool DNA Testing for Colorectal-Cancer Screening [nejm.org] and Editorial: Stool DNA and Colorectal-Cancer Screening [nejm.org]
2013
- June: Therapeutic Targeting of a Robust Non-Oncogene Addiction to PRKDC in ATM-Defective Tumors [stm.sciencemag.org]
2012
- October: Aspirin Use, Tumor PIK3CA Mutation, and Colorectal-Cancer Survival [nejm.org]
- September: Comprehensive molecular portraits of human breast tumours [ncbi.nlm.nih.gov]
- September: Activity and safety of crizotinib in patients with ALK-positive non-small-cell lung cancer: updated results from a phase 1 study [ncbi.nlm.nih.gov]
- August: Vemurafenib: a new treatment for BRAF-V600 mutated advanced melanoma [ncbi.nlm.nih.gov]
- July: FDA Approval for Cetuximab: Approved for K-ras wild-type, EGFR-expressing Metastatic Colorectal Cancer [cancer.gov]
- July: Genetic Gamble: New Approaches to Fighting Cancer [nytimes.gov]
Three-part, New York Times series on cancer sequencing - March: Intratumor heterogeneity and branched evolution revealed by multiregion sequencing [ncbi.nlm.nih.gov]
2011
- January: Massive genomic rearrangement acquired in a single catastrophic event during cancer development [ncbi.nlm.nih.gov]
- March: Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease [ncbi.nlm.nih.gov]
- February: NT5E mutations and arterial calcifications [ncbi.nlm.nih.gov]
Sequencing
2016
- 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 [nature.com]
- June: Exome Sequencing and the Management of Neurometabolic Disorders [nejm.org]
- March: Outcome of whole exome sequencing for diagnostic odyssey cases of an individualized medicine clinic: the Mayo Clinic experience [mayoclinicproceedings.org]
- February: Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
2015
- 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 [stm.sciencemag.org]
- April: Whole genome sequencing in critically ill newborns [thelancet.com]
- April: Cell-free DNA Analysis for Noninvasive Examination of Trisomy [nejm.org]
2014
- September: Genomic surveillance elucidates Ebola virus origin and transmission during the 2014 outbreak [sciencemag.org]
- July: Spread of Artemisinin Resistance in Plasmodium falciparum Malaria [nejm.org]
- June: Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing [nejm.org]
- February: DNA sequencing versus standard prenatal aneuploidy screening [nejm.org]
- February: Impact of Oophorectomy on Cancer Incidence and Mortality in Women With a BRCA1 or BRCA2 Mutation [jco.ascopubs.org]
2013
- October: Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders [nejm.org]
- September: Actionable, Pathogenic Incidental Findings in 1,000 Participants' Exomes [ajhg.org]
- February: Whole-genome sequencing for analysis of an outbreak of meticillin-resistant Staphylococcus aureus: a descriptive study [thelancet.com]
2012
- December: Diagnostic exome sequencing in persons with severe intellectual disability [www.ncbi.nlm.nih.gov]
- October: Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units [ncbi.nlm.nih.gov]
- August: Tracking a hospital outbreak of carbapenem-resistant Klebsiella pneumoniae with whole-genome sequencing [ncbi.nlm.nih.gov]
- June: Noninvasive whole-genome sequencing of a human fetus [ncbi.nlm.nih.gov]
- March: Personal omics profiling reveals dynamic molecular and medical phenotypes [ncbi.nlm.nih.gov]
2011
- March: Universal noninvasive detection of solid organ transplant rejection [ncbi.nlm.nih.gov]
Disease-based Findings
2018
- April: Gene therapy in patients with transfusion-dependent β-thalassemia [nejm.org]
2017
2016
- December: Genetic identification of familial hypercholesterolemia within a single U.S. health care system [sciencemag.org]
- November: Genetic risk, adherence to a healthy lifestyle, and coronary disease [nejm.org]
2015
- May: Lumacaftor-ivacaftor in patients with cystic fibrosis [www.nejm.org]
2014
- July: Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease [nejm.org]
- June: Null Mutation in Hormone-Sensitive Lipase Gene and Risk of Type 2 Diabetes [nejm.org]
- March: Constitutive Activation of PKA Catalytic Subunit in Adrenal Cushing's Syndrome [nejm.org]
- February: Genetic Variants in C5 and Poor Response to Eculizumab [nejm.org]
- January: Variant GADL1 and Response to Lithium Therapy in Bipolar I Disorder [nejm.org]
2013
- October: HLA-B*13:01 and the Dapsone Hypersensitivity Syndrome [nejm.org]
- September: A Host-Based RT-PCR Gene Expression Signature to Identify Acute Respiratory Viral Infection [stm.sciencemag.org]
2012
- February: Truncations of titin causing dilated cardiomyopathy [ncbi.nlm.nih.gov]
2011
- November: A CFTR potentiator in patients with cystic fibrosis and the G551D mutation [ncbi.nlm.nih.gov]
- August: Computational repositioning of the anticonvulsant topiramate for inflammatory bowel disease [ncbi.nlm.nih.gov]
Professional Guidelines and Policy
2018
- May: Interdisciplinary models for research and clinical endeavors in genomic medicine: a scientific statement from the American Heart Association [circgenetics.ahajournals.org]
2013
- May: The policy of public health genomics in Italy [ncbi.nlm.nih.gov]
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