Good Start Genetics, Inc. Reports Clinical Data Showing Its Carrier Screening Technology Detects Mutations in Cystic Fibrosis and Other Diseases Missed by Traditional Approaches

Published: Apr 18, 2013

INDIAN WELLS, California, and CAMBRIDGE, Massachusetts, April 18, 2013 - Good Start Genetics®, Inc., an innovative molecular diagnostics company that has developed the new gold standard in carrier screening, presented clinical data at this week’s annual meeting of the Pacific Coast Reproductive Society (PCRS). These data, highlighted in two poster presentations, demonstrate that the company’s next-generation sequencing (NGS) based carrier screening platform detects pathogenic (i.e., disease-causing) mutations that would have been missed by conventional technologies.

“The results presented this week continue to demonstrate that our proprietary approach using NGS can accurately detect far more disease-causing mutations than traditional carrier screening technologies used in the IVF setting,” said Don Hardison, president and CEO of Good Start Genetics. “We have taken a rigorous approach to the design and validation of the Good Start technology platform, and we are seeing terrific results in IVF centers across the country. We are pleased to be partnering with the IVF community to detect carriers that would have been missed using other technologies.”

The first of two abstracts is titled, “Carrier Screening of 4,200 IVF Patients Utilizing Next Generation DNA Sequencing Detects Common, Rare and Otherwise Undetectable Mutations Across Several Diseases.” The poster presented at the meeting provides updated data regarding the detection of numerous rare and novel pathogenic mutations among 10 diseases. In this study, using NGS technology in a cohort of over 8,000 subjects, researchers showed that more than 26% of the carriers identified would have been missed had traditional tests been used. The authors conclude that without the NGS technology platform, IVF couples would be at increased risk of having a child with one of these genetic disorders. The data are presented in abstract number P65 (lead author, Stephanie Hallam, PhD).

The second abstract is titled, “Carrier Screening for Cystic Fibrosis Among IVF Patients Utilizing Next Generation DNA Sequencing Detects Common, Rare and Otherwise Undetectable Mutations.” In this study of nearly 8,500 patients screened for cystic fibrosis (CF) in a clinical setting, investigators report the detection of numerous rare pathogenic (i.e., disease-causing) CF mutations that would have been missed using traditional screening assays. In the conclusion, the authors note that there are significant advantages to NGS over traditional genotyping approaches, including the ability to detect more CF carriers, and across ethnicities, than ever before possible. The data are presented in abstract number P66 (lead author, Stephanie Hallam, PhD).

Since its national launch in April 2012, Good Start Genetics’ high-complexity, CLIA- and CAP-accredited laboratory has processed tens of thousands of test orders. The GoodStart Select™ carrier screening service detects both common disease-causing mutations in carriers across all 23 diseases recommended for testing by major medical societies, as well as rare pathogenic mutations that would go undetected by laboratories using older, traditional genotyping-based technologies. For example, most traditional genotyping-based technologies detect about 100 pathogenic mutations for CF, while GoodStart Select™ detects more than 550 pathogenic mutations.

The Pacific Coast Reproductive Society annual meeting is a premier forum for scientific discussion toward the advancement of the field of reproductive medicine. The meeting is attended by global thought leaders in the reproductive health community, including reproductive endocrinologists, embryologists and allied health professionals from across the country. The data presented by Good Start Genetics at this meeting build on data presented last month at the American College of Medical Genetics and Genomics (ACMG) annual meeting in Phoenix, AZ.

About Good Start Genetics, Inc.

Good Start Genetics has developed the new gold standard in carrier screening by making testing for the most comprehensive set of known and novel disease-causing mutations accessible for routine clinical practice. After years of development and rigorous validation, Good Start Genetics has harnessed the power of next-generation sequencing and other best-in-class technologies to provide highly accurate, actionable and affordable tests for all disorders recommended for genetic testing by ACOG, ACMG and other key medical societies. For these reasons, fertility specialists and their patients can have a high degree of confidence in their carrier screening results, and no longer have to compromise accuracy for price. For more information, please visit

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