Carrier screening by next-generation sequencing: health benefits and cost effectiveness
January 30, 2016
Schedule
Counseling
Peer-reviewed scientific publications
Good Start Genetics has developed a proprietary next-generation DNA sequencing (NGS) platform which has been rigorously validated both analytically and clinically.
“A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility” published in Molecular Genetics & Genomic Medicine
March 24, 2015
Describes the rigorous approach used to build the Good Start Genetics proprietary variant database, and demonstration of its clinical effectiveness.
Paper: (CC-BY) : Molecular Genetics & Genomic Medicine
Download“Validation for Clinical Use of, and Initial Clinical Experience with, a Novel Approach to Population-Based Carrier Screening using High-Throughput, Next-Generation DNA Sequencing” published in The Journal of Molecular Diagnostics
March 2, 2014
Describes the studies performed to ensure the accuracy (analytic validity) and robustness of a next-generation DNA sequencing-based assay for use in clinical practice and provide data from our experience offering this testing.
Paper: (CC-BY) : Journal of Molecular Diagnosis
Download“Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening” published in Molecular Genetics & Genomic Medicine
August 2, 2013
Demonstrates that NGS can be superior in detecting TSD carriers compared to traditional enzyme and genotyping methodologies, which are limited by false-positive and false-negative results and ethnically focused, limited mutation panels, respectively, but is not ready for sole use due to lack of information regarding some VUS.
Paper: (CC-BY) : Molecular Genetics & Genomic Medicine
Download“Next-Generation Carrier Screening” published in Genetics in Medicine
June 13, 2013
Published in Genetics in Medicine, this study demonstrates that Good Start Genetics’ next-generation DNA sequencing-based technology (NGS) is highly sensitive and specific for disease-causing mutations and surpasses the accuracy reported for other NGS. We expect this to yield more accurate, sensitive and complete carrier screening results.
Paper: (CC-BY-NC-ND) : Genetics in Medicine
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