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Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions
Conclusions Analytic validation of FirstStepDx PLUS coupled with over three years of clinical use have demonstrated the utility of FirstStepDx PLUS in identifying genetic causes for neurodevelopmental conditions. The simple non-invasive sampling procedure, high clinical sensitivity and extensive support services make FirstStepDx PLUS an ideal choice for the clinical genetic evaluation of patients with these disorders. Samples and Methods All samples were referred to Lineagen for routine clinical microarray testing. All participants, or their representatives, provided written informed consent to use the samples for researc...
Source: PLOS Currents Evidence on Genomic Tests - February 27, 2017 Category: Genetics & Stem Cells Authors: chhensel Source Type: research

A 22 Gene-expression Assay, Decipher ® (GenomeDx Biosciences) to Predict Five-year Risk of Metastatic Prostate Cancer in Men Treated with Radical Prostatectomy
Conclusions The recently introduced genomic classifier was developed to identify men with increased risk for metastatic prostate cancer following radical prostatectomy. The genomic classifier was shown to have good discrimination in detecting men at risk for metastatic prostate cancer five years after surgery (AUC 0.75 to 0.90). However, these estimates may be biased given differences in important prognostic characteristics between cases and controls. Independent validation in patients with high-risk prostate cancer may provide more reliable estimates of the prognostic ability of the genomic classifier. At this time it is ...
Source: PLOS Currents Evidence on Genomic Tests - November 17, 2015 Category: Genetics & Stem Cells Authors: Michael Marrone Source Type: research

A 22 Gene-expression Assay, Decipher® (GenomeDx Biosciences) to Predict Five-year Risk of Metastatic Prostate Cancer in Men Treated with Radical Prostatectomy
Conclusions The recently introduced genomic classifier was developed to identify men with increased risk for metastatic prostate cancer following radical prostatectomy. The genomic classifier was shown to have good discrimination in detecting men at risk for metastatic prostate cancer five years after surgery (AUC 0.75 to 0.90). However, these estimates may be biased given differences in important prognostic characteristics between cases and controls. Independent validation in patients with high-risk prostate cancer may provide more reliable estimates of the prognostic ability of the genomic classifier. At this time it is ...
Source: PLOS Currents Evidence on Genomic Tests - November 17, 2015 Category: Genetics & Stem Cells Authors: Michael Marrone Source Type: research

Predicting Prognosis of Early-Stage Non-Small Cell Lung Cancer Using the GeneFx ® Lung Signature
Conclusions Although numerous factors are considered when staging NSCLC, there remains a clinical unmet need to delineate risk of recurrence in early stage patients as stage alone does not fully elucidate which patients may benefit from adjuvant chemotherapy. Clinicopathological factors currently employed are not significantly associated with treatment effectiveness, with the exception of tumor size. GeneFx Lung is a robust gene signature that has been validated in several independent cohorts to estimate risk of recurrence in early stage NSCLC, with overall survival being significantly associated with GeneFx Lung risk cate...
Source: PLOS Currents Evidence on Genomic Tests - October 26, 2015 Category: Genetics & Stem Cells Authors: Sandy Der Source Type: research

Predicting Prognosis of Early-Stage Non-Small Cell Lung Cancer Using the GeneFx® Lung Signature
Conclusions Although numerous factors are considered when staging NSCLC, there remains a clinical unmet need to delineate risk of recurrence in early stage patients as stage alone does not fully elucidate which patients may benefit from adjuvant chemotherapy. Clinicopathological factors currently employed are not significantly associated with treatment effectiveness, with the exception of tumor size. GeneFx Lung is a robust gene signature that has been validated in several independent cohorts to estimate risk of recurrence in early stage NSCLC, with overall survival being significantly associated with GeneFx Lung risk cate...
Source: PLOS Currents Evidence on Genomic Tests - October 26, 2015 Category: Genetics & Stem Cells Authors: Sandy Der Source Type: research

Use of ChemoFx ® for Identification of Effective Treatments in Epithelial Ovarian Cancer
Conclusions Outcomes for women with gynecologic cancers who have been empirically treated are stagnant and disappointing. ChemoFx helps clinicians individualize treatment selections and improve patient outcomes in gynecologic cancer. Numerous publications have outlined the strength of the analytical validity behind the ChemoFx assay in this setting. Several more recent studies, including those with a prospective design, have clinically validated that ChemoFx is an assay capable of predicting the effectiveness of specific therapies and that patients treated with ChemoFx sensitive therapies experience improved outcomes. Pati...
Source: PLOS Currents Evidence on Genomic Tests - July 13, 2015 Category: Genetics & Stem Cells Authors: Scott Richard Source Type: research

Use of ChemoFx® for Identification of Effective Treatments in Epithelial Ovarian Cancer
Conclusions Outcomes for women with gynecologic cancers who have been empirically treated are stagnant and disappointing. ChemoFx helps clinicians individualize treatment selections and improve patient outcomes in gynecologic cancer. Numerous publications have outlined the strength of the analytical validity behind the ChemoFx assay in this setting. Several more recent studies, including those with a prospective design, have clinically validated that ChemoFx is an assay capable of predicting the effectiveness of specific therapies and that patients treated with ChemoFx sensitive therapies experience improved outcomes. Pati...
Source: PLOS Currents Evidence on Genomic Tests - July 13, 2015 Category: Genetics & Stem Cells Authors: Scott Richard Source Type: research

CYLD GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas
In this study, issues relating to genetic counselling which are relevant to those undergoing genetic testing for CYLD mutations are explored. When a pathogenic mutation in CYLD is identified in a patient who meets the criteria for testing, they have the advantage of knowing their diagnosis is confirmed, and can use the information for their benefit. Patients who present with multiple skin appendage tumours but are not known to have a family history may not have considered that their tumours could represent an underlying genetic cause. The knowledge that this is so can help them anticipate the fact that further tumours may ...
Source: PLOS Currents Evidence on Genomic Tests - February 19, 2015 Category: Genetics & Stem Cells Authors: Anna Dubois Source Type: research

Multi-marker Solid Tumor Panels Using Next-generation Sequencing to Direct Molecularly Targeted Therapies
Conclusions Recent advances in sequencing technology provide new opportunities for genomic medicine. With these opportunities come the promises of personalized medicine that are changing oncology practice. However, aspects of analytic and clinical validity and clinical utility of the current paradigm shift has yet to be clearly established. Developing the necessary evidence to establish clinical validity and utility may require novel thinking to adapt to the dynamic challenges associated with implementing NGS tumor sequencing into clinical practice. Researchers must also address several limitations in the underlying concep...
Source: PLOS Currents Evidence on Genomic Tests - May 27, 2014 Category: Genetics & Stem Cells Authors: michaelmarrone Source Type: research

SLCO1B1 Polymorphisms and Statin-Induced Myopathy
Clinical scenario Statins are 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitors which reduce the risk of coronary events and death by lowering blood concentrations of low density lipoprotein cholesterol (LDL-c).1,2,3,4 They are generally regarded as safe and well tolerated. However, some patients experience adverse muscle symptoms; these are mostly relatively mild but, in rare cases, severe muscle damage with renal failure (rhabdomyolysis) may occur (reviewed in 5,6). Recently, an autoimmune form of necrotising myositis has also been identified as a rare statin-associated myopathy (reviewed in 7). There ...
Source: PLOS Currents Evidence on Genomic Tests - December 4, 2013 Category: Genetics & Stem Cells Authors: Alison Stewart Source Type: research

Genetic Testing Strategies in Newly Diagnosed Endometrial Cancer Patients Aimed at Reducing Morbidity or Mortality from Lynch Syndrome in the Index Case or Her Relatives
This study also included analysis of a sample of clinic-based cases and their relatives. Some studies were also identified in which MSI was analysed only in tumours from patients with known MMR gene mutations.11,70,75 Although not ideal, as no mutation-negative individuals were tested, investigators were not blind to mutation status, and the populations are not representative of an unselected population of endometrial cancer patients, these studies were included to contribute to estimates of test sensitivity. As shown in Table 1, estimates of the sensitivity of MSI analysis range from 77-100%, with specificity 38-81% overa...
Source: PLOS Currents Evidence on Genomic Tests - September 16, 2013 Category: Genetics & Stem Cells Authors: Alison Stewart Source Type: research

Use of the Corus ® CAD Gene Expression Test for Assessment of Obstructive Coronary Artery Disease Likelihood in Symptomatic Non-Diabetic Patients
Conclusions The Corus CAD test has been extensively evaluated since it was first derived, including with two prospective multi-center trials. Given the scope of the deleterious effects of CAD and the considerable costs involved in diagnosing obstructive CAD, a blood test that can help in this determination is certainly valuable. The Corus CAD test promises to have an important role in this regard particularly if it continues to perform this well in larger, more diverse cohorts. (Source: PLOS Currents Evidence on Genomic Tests)
Source: PLOS Currents Evidence on Genomic Tests - August 26, 2013 Category: Genetics & Stem Cells Authors: Jose Vargas Source Type: research

Use of the Corus® CAD Gene Expression Test for Assessment of Obstructive Coronary Artery Disease Likelihood in Symptomatic Non-Diabetic Patients
Conclusions The Corus CAD test has been extensively evaluated since it was first derived, including with two prospective multi-center trials. Given the scope of the deleterious effects of CAD and the considerable costs involved in diagnosing obstructive CAD, a blood test that can help in this determination is certainly valuable. The Corus CAD test promises to have an important role in this regard particularly if it continues to perform this well in larger, more diverse cohorts. (Source: PLOS Currents Evidence on Genomic Tests)
Source: PLOS Currents Evidence on Genomic Tests - August 26, 2013 Category: Genetics & Stem Cells Authors: Jose Vargas Source Type: research

PLOS Currents: Evidence on Genomic Tests
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Source: PLOS Currents Evidence on Genomic Tests - April 25, 2013 Category: Genetics & Stem Cells Authors: Liz Flavall Tags: carousel Source Type: research