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PLOS Currents no longer accepts new submissions.
After much consideration and a full review of the platform, we have made the difficult decision to cease publication of PLOS Currents. We no longer accept new submissions to the journal. Authors of articles under review at PLOS Currents have been contacted by the journal office. All PLOS Currents content remains available here and in PubMedCentral, and is indexed in PubMed. All enquiries can be addressed to currents@plos.org (Source: PLOS Currents Evidence on Genomic Tests)
Source: PLOS Currents Evidence on Genomic Tests - April 25, 2013 Category: Genetics & Stem Cells Authors: Liz Flavall Tags: carousel Source Type: research

SCN1A Genetic Test for Dravet Syndrome (Severe Myoclonic Epilepsy of Infancy and its Clinical Subtypes) for use in the Diagnosis, Prognosis, Treatment and Management of Dravet Syndrome
Clinical Scenario Test for epilepsy syndromes associated with mutations in the SCN1A gene including the severe infantile onset epilepsies- typical Dravet syndrome (severe myoclonic epilepsy in infancy) and its borderline subtypes. Dravet syndrome typically presents in the first year of life with prolonged febrile and non-febrile, generalised clonic or hemiclonic epileptic seizures in children with no pre-existing developmental problems. Other seizure types including myoclonic, focal and atypical absence seizures appear between the ages of one and four years. The epilepsy is usually refractory to standard anti-epileptic med...
Source: PLOS Currents Evidence on Genomic Tests - April 25, 2013 Category: Genetics & Stem Cells Authors: sustenhouse Source Type: research

The DecisionDx-UM Gene Expression Profile Test Provides Risk Stratification and Individualized Patient Care in Uveal Melanoma
Conclusions The DecisionDx-UM test is the only prognostic tool in uveal melanoma that has been prospectively validated in a multi-center study, and it is used by the majority of ocular oncology centers in North America for routine clinical prognostic testing36. The results of the test are used for stratifying patients for risk-appropriate metastatic surveillance, medical oncology referral and entry into clinical trials for adjuvant therapy. The test has been shown to provide superior prognostic accuracy in side-by-side comparisons with clinical, pathologic and chromosomal prognostic factors, and it is simpler to use than t...
Source: PLOS Currents Evidence on Genomic Tests - April 9, 2013 Category: Genetics & Stem Cells Authors: jwharbour at med.miami.edu Source Type: research

Use of the Afirma® Gene Expression Classifier for Preoperative Identification of Benign Thyroid Nodules with Indeterminate Fine Needle Aspiration Cytopathology
Conclusions The clinical validity studies reviewed would fall into the Level 1 category in the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) hierarchy of data sources and study designs, based on two prospective, multicenter, double blinded cohort studies.33 A validated clinical decision rule was based on classification concordance of Afirma GEC benign results with blinded expert surgical pathology benign diagnosis. 11 Sensitivity in most indeterminate FNAs was high enough (92%) to achieve a NPV of 94-95%, which is comparable to a thyroid nodule that is benign on cytopathology but undergoes surgical ...
Source: PLOS Currents Evidence on Genomic Tests - February 11, 2013 Category: Genetics & Stem Cells Authors: sali at jhmi.edu Source Type: research

Genetic testing for long QT syndrome and the category of cardiac ion channelopathies
Clinical Scenario In patients with fainting (especially occurring during physical exertion or emotional/auditory arousal), seizures, a history of aborted cardiac arrest, a family history of sudden death, or who have themselves succumbed to sudden cardiac death (SCD), cardiac ion channel mutation testing, typically in conjunction with electrocardiography, can provide important information. Performed with cardiac evaluation, genetic testing may be used to determine the status of long QT syndrome (LQTS), short QT syndrome (SQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and Brugada syndrome (BrS) genes fr...
Source: PLOS Currents Evidence on Genomic Tests - May 3, 2012 Category: Genetics & Stem Cells Authors: stephenmmodell Source Type: research

Comprehensive Carrier Screening and Molecular Diagnostic Testing for Recessive Childhood Diseases
Clinical Scenarios The test is designed both for preconception carrier testing of couples wishing to start a family and for molecular diagnosis in children suspected of being affected by a recessive childhood disease. The published (research) version of the test included 448 childhood recessive illnesses with severe clinical manifestations1. A revised panel is undergoing clinical validation for use as a laboratory developed test (LDT) with an intention of being offered via a laboratory regulated by the Clinical Laboratory Improvement Amendments (CLIA). The clinical panel contains 595 childhood recessive diseases that are d...
Source: PLOS Currents Evidence on Genomic Tests - May 2, 2012 Category: Genetics & Stem Cells Authors: stephenkingsmore Source Type: research

About PLOS Currents: Evidence on Genomic Tests
Genetic tests and other health-related applications of genomic research are increasingly available but information on their validity and utility is often fragmented and difficult to access. PLOS Currents: Evidence on Genomic Tests aims to provide summaries of available data and to highlight important gaps in knowledge.   (Source: PLOS Currents Evidence on Genomic Tests)
Source: PLOS Currents Evidence on Genomic Tests - April 3, 2012 Category: Genetics & Stem Cells Authors: preilly Tags: carousel Source Type: research

PLOS Currents Goals
PLOS Currents is a publication channel that aims to address four facets of scholarly research communications: 1) Decrease publishing time with a streamlined review and production process. 2) Focus: Publish research within a focused research community. 3) Flexibility: Unlock rigid article formats to reflect diversity and broaden forms of research disseminated. 4) Revisions: Free the static research article with revisions that document research in progress. (Source: PLOS Currents Evidence on Genomic Tests)
Source: PLOS Currents Evidence on Genomic Tests - April 3, 2012 Category: Genetics & Stem Cells Authors: preilly Tags: carousel Source Type: research

A 20 gene model for predicting nodal involvement in bladder cancer patients with muscle invasive tumors
Conclusions The 20 gene model described in this summary is the first published model for predicting nodal involvement in bladder cancer patients and by providing this molecular intelligence, has the potential to strategically increase the use of neoadjuvant therapy and increase bladder cancer survival rates while limiting unnecessary aggressive treatment. Importantly, the model was developed with clinical applicability in mind. Specifically, the 20 genes (21 probes) used in the model are reliably expressed in TUR specimens and can be reliably detected with both FF and FFPE preservation methods, the clinical conditions unde...
Source: PLOS Currents Evidence on Genomic Tests - August 11, 2011 Category: Genetics & Stem Cells Authors: garrettdancik Source Type: research