Good Start Genetics Reports Clinical Data at the Annual Meeting of the American College of Medical Genetics and Genomics (ACMG)

Using Next Generation Sequencing, Good Start Genetics Detects Pathogenic Mutations Missed by Traditional Screening Technologies

Good Start Genetics next generation sequencing technology enables expanded carrier screening. (Graphic: Business Wire)

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PHOENIX--()--Good Start Genetics®, Inc., an innovative molecular diagnostics company which has developed the new gold standard in carrier screening, presented clinical data at this week’s annual meeting of the American College of Medical Genetics and Genomics (ACMG). These data were generated using its unique, next-generation sequencing (NGS) based carrier screening platform in the IVF setting.

In the first of two abstracts presented at ACMG, entitled ‘Carrier Screening of 4,200 IVF Patients Utilizing Next Generation DNA Sequencing Detects Common, Rare and Otherwise Undetectable Mutations Across Several Diseases’, the authors report the detection of numerous rare and novel pathogenic (i.e., disease-causing) mutations among 14 diseases in a clinical setting. The authors conclude that without NGS, these carriers would have been missed, putting the IVF couples at increased risk of having a child with one of these genetic disorders.

In the second abstract presented, entitled Next Generation DNA Sequencing Detects Rare and Novel Mutations Across Several Diseases’, the authors describe the identification of 50 pathogenic alleles across ten diseases among over 3,300 patient samples screened. In this study, 34% of the mutations identified using Good Start’s screening tests would have been missed had traditional tests been used.

“These results clearly demonstrate that NGS can detect far more disease-causing mutations than can older screening technologies currently in use in the IVF setting,” said Don Hardison, president and CEO of Good Start Genetics. “We’re very pleased to be able to offer this cutting edge technology to IVF centers across the country, and even more pleased that we are detecting carriers that would have otherwise been missed.”

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 common pathogenic (i.e., 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 cystic fibrosis (CF), while GoodStart Select™ detects 550 pathogenic mutations.

About Good Start Genetics, Inc.

Good Start Genetics is setting 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 and ACMG. 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, visit


For Good Start Genetics, Inc.
Dave Connolly, 617-374-8800, ext. 104

Release Summary

Good Start Genetics presents at American College of Medical Genetics and Genomics detection of rare and novel pathogenic or disease-causing gene mutations using its next generation sequencing.



For Good Start Genetics, Inc.
Dave Connolly, 617-374-8800, ext. 104