Good Start Genetics Announces Publication Of Validation Study And Clinical Data Demonstrating Accuracy Of Their NGS-Based Carrier Screening Test
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 the publication of data from validation studies plus data from more than 11,000 patient samples tested in its clinical laboratory. These data, published in the Journal of Molecular Diagnostics,further validate the accuracy of the company’s NGS-based carrier screening test. The findings demonstrate that nearly 25% of the distinct pathogenic mutations and more than 5% of carriers detected by Good Start Genetics would have been missed by other commercially available genotyping screens utilizing traditional technologies. By arming physicians and patients with this actionable information, GoodStart Select™, the menu of carrier screening tests offered by Good Start Genetics, therefore has the potential to provide couples with greater certainty concerning their risk of conceiving a child with a debilitating or fatal inherited disease.
“We believe these results provide further evidence of the potential of GoodStart Select to offer the clinical and technical strength required to detect disease-causing mutations and guide clinical action,” stated Don Hardison, president and chief executive officer of Good Start Genetics. “These data further demonstrate our ability to provide couples with a reliable and clinically relevant set of personalized genetic information so that these couples, along with their healthcare providers, can make informed decisions prior to becoming pregnant.”
The study, conducted by Good Start Genetics’ team of clinical geneticists and scientists, evaluated 11,691 patients from in vitro fertilization (IVF) centers across the United States which used GoodStart Select screening tests, and identified 449 pathogenic mutations among 15 genes that are associated with 14 fatal or debilitating genetic diseases. Eighty-seven of these mutations were classified as distinct, and about one quarter of those would be missed by other commercially available genetic screening tests utilizing traditional, limited mutation panels, including 16 known mutations unique to GoodStart Select, and seven previously unreported mutations detected by this technology. More than 5% of patients that are carriers would have been missed if these traditional screening methods were used. By providing physicians and patients with additional actionable information, GoodStart Select has the potential to provide reproductive couples with greater certainty concerning their risk of conceiving a child with a debilitating or fatal genetic disorder.
“Good Start Genetics is committed to providing the highest quality carrier screening assays in order to ensure that the genetic information generated from each test is accurate, clinically relevant and valuable,” said Stephanie Hallam, Ph.D., vice president, laboratory operations and medical director of Good Start Genetics. “These findings showcase the power of our NGS technology for increased carrier detection rates across a number of severe, prevalent and guideline-recommended disorders, and further differentiates our proprietary test and platform.”
About GoodStart Select™
GoodStart Select is Good Start Genetics’ menu of carrier screening tests that, for diseases such as cystic fibrosis, detects more disease-causing mutations than other commercially available carrier screening tests utilizing traditional genotyping technologies, 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 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 superior 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.
Copyright Business Wire 2014