CAMBRIDGE, Mass.--(BUSINESS WIRE)--Good Start Genetics®, Inc., an innovative molecular diagnostics company delivering best-in-class tests for routine genetic screening, announced that the journal Genetics in Medicine published a study online today validating the company’s powerful, proprietary next-generation DNA sequencing (NGS) approach. The study, titled “Next-Generation Carrier Screening,” demonstrates that Good Start Genetics’ DNA sequencing-based technology surpasses other methods by yielding more accurate, sensitive and complete carrier screening results. The company’s NGS-based tests are currently available to reproductive health providers across the United States as GoodStart Select™.
“This is one of the best examples yet that personal genome knowledge offers great value to everyone alive, not just a few. Your genome contains highly predictive and medically actionable insights. This is also a terrific validation of recent technological efforts to improve cost and quality of sequencing, and allows us to learn much more about ourselves,” said genomics expert and study co-author George Church, Ph.D., professor of genetics at Harvard Medical School.
Genetic carrier screening is routinely performed to better understand the risk of a couple having a child with a known inherited disease. In this study, Good Start Genetics utilized its NGS technology to sequence and analyze the protein-coding regions of 15 genes in which loss-of-function mutations cause 14 recessive common genetic disorders. In this study, the company employed Sanger sequencing on an unprecedented scale to determine the accuracy of its NGS approach. Good Start Genetics achieved 99.98 percent analytical sensitivity and 99.9999 percent analytical specificity, exceeding the accuracy previously reported by others studying NGS. In addition, Good Start Genetics’ gene targeting technology was shown to capture at least 99.8 percent of desired regions, greatly surpassing the capabilities of other gene capture approaches to produce a more comprehensive result.
In addition, the company developed, validated and reported a patented novel algorithm (GATA) to detect genetic insertions and deletions inaccessible by current methods. The algorithm was shown in this study to detect challenging mutations that current state-of-the-art analysis approaches miss, without reducing specificity. The accuracy of GATA was also validated by realistic simulation of disease-causing mutations, further increasing confidence in the results of Good Start Genetics’ NGS approach.
“The publication of the analytical performance of our NGS approach is a wonderful achievement for our company,” said Don Hardison, president and CEO of Good Start Genetics. “It further differentiates our NGS-based GoodStart Select screening test as robust, accurate and comprehensive. We believe the unprecedented analytical performance of our approach, and the scientific rigor with which it was validated, ultimately provides enormous value to physicians and patients, and sets us apart as leaders in the clinical application of next-generation sequencing.”
About GoodStart Select™
GoodStart Select is Good Start Genetics’ menu of carrier screening tests that, for diseases such as cystic fibrosis, detects many more disease-causing mutations than any other routine carrier screening test, regardless of patient ethnicity. After years of development and rigorous validation, Good Start Genetics has harnessed the power of its sophisticated technologies, including next-generation DNA sequencing (NGS), to provide highly accurate and actionable tests resulting in higher mutation detection rates and fewer missed carriers. Good Start offers genetic screening tests for all disorders recommended by the American Congress of Obstetricians and Gynecologists (ACOG), the American College of Medical Genetics and Genomics (ACMG), and leading Jewish advocacy groups.
To support the company’s gold standard genetic screening capabilities, Good Start has a dedicated team of customer care specialists, board certified medical geneticists and genetic counselors who provide step-by-step support, from test selection through results, analysis and reporting. For these reasons, reproductive health specialists and their patients can have the highest degree of confidence in their genetic carrier screening results.
Good Start Genetics is an innovative molecular diagnostics company harnessing a powerful, proprietary next-generation DNA sequencing (NGS) capability combined with other technologies to deliver best-in-class tests for routine genetic screening. Through its GoodStart Select™ offering, the company provides the most comprehensive and clinically actionable set of tests for known and novel mutations that cause inherited diseases. Good Start’s NGS capabilities can be applied to multiple disease areas, including pre-conception carrier screening in the in-vitro fertilization setting. For more information, please visit www.goodstartgenetics.com.