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.

Carrier screening by next-generation sequencing: health benefits and cost effectiveness

January 30, 2016

“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


“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


“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


“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