New Findings Highlight the Power and Accuracy of Good Start Genetics’ Carrier Screening Technologies
Sequencing Data from 16,500 Patients; Other Key Data Presented at ASHG Annual Meeting
CAMBRIDGE, Mass.--(BUSINESS WIRE)--Good Start Genetics®, Inc., an innovative molecular diagnostics company harnessing a powerful, proprietary next-generation DNA sequencing (NGS) capability, today announced that seven abstracts were accepted for presentation at the 2013 American Society for Human Genetics (ASHG) Annual Meeting. The abstracts highlight Good Start’s leadership position in next-generation DNA sequencing and present new data that demonstrate the company’s NGS-based carrier screening is able to detect rare and novel mutations not detected by other laboratories. The findings reinforce that the NGS-based technology utilized in the company’s carrier screening test, GoodStart Select™, more accurately detects pathogenic mutations, irrespective of patient ethnicity, and results in fewer missed carriers.
“As a result, the patient receives the most comprehensive and clinically-relevant test results available and can further understand the risks of conceiving a child with a debilitating or fatal inherited disease prior to becoming pregnant.”
“These data, generated in both the clinical and research sides of our business, further demonstrate the ability of our validated technology to capture disease-causing mutations that other tests simply cannot detect,” stated Don Hardison, president and chief executive officer of Good Start Genetics. “As a result, the patient receives the most comprehensive and clinically-relevant test results available and can further understand the risks of conceiving a child with a debilitating or fatal inherited disease prior to becoming pregnant.”
Two of the posters presented are highlighted below.
Enhanced Detection through Next Generation Sequencing
In a poster presentation, titled Detection of Carriers of Rare and Novel Mutations using Next Generation DNA Sequencing, data demonstrate that Good Start Genetics’ NGS platform is able to detect uncommon and previously unrecognized mutations across a spectrum of society-recommended disorders. Through analysis of nearly 16,500 patients referred for carrier screening from in vitro fertilization (IVF) clinics across the U.S., Good Start identified 146 unique mutations and 771 carriers across 15 genes. More than a third (39%) of these mutations would not have been detected by traditional carrier screening, in particular the novel pathogenic mutations, which are only detectable with comprehensive sequencing. These data showcase the accuracy and precision of NGS-based carrier screening, ultimately providing clinically relevant information to patients that may decrease their risk of conceiving a child with a debilitating or fatal genetic disorder. The data were presented in program number 2827W.
Effective Detection of Tay-Sachs Disease Carrier Status
In a second poster presentation, titled Discrepant Tay-Sachs disease enzyme and DNA carrier screening results in the African American population, the authors demonstrate that the current standard of care for detecting carriers of Tay-Sachs disease (TSD) is not an accurate method to assess carrier status in African Americans and possibly other populations. Retrospective analysis of 2,656 patients demonstrated that there is a high percentage of African Americans who do not have a genetic mutation for TSD, yet presented with an indeterminate or positive TSD result from enzyme analysis. This conflicts with current guidelines from ACOG that recommend enzyme analysis as a screening tool in low-risk patients. The data were presented in program number 2543W.
The American Society for Human Genetics is the primary professional membership organization for human genetics specialists worldwide. The Society’s nearly 8,000 members include researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses and others who have a special interest in the field of human genetics. The 2013 ASHG Annual Meeting is attended by research scientists and health professionals from around the world who are dedicated to genetics research, education and support.
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.