Findings from Two Studies Evaluating up to 70,000 Patients Presented at the 2015 Annual ACOG Meeting
CAMBRIDGE, Mass., May 5, 2015 - Good Start Genetics®, Inc., a commercial-stage molecular genetics information company, today presented data from two studies analyzing detection rates among patients at in vitro fertilization (IVF) clinics who underwent carrier screening for inherited diseases. The studies were presented at the 2015 Annual Clinical and Scientific Meeting of The American College of Obstetricians and Gynecologists (ACOG) being held in San Francisco, Calif.
The first study, titled “Carrier Screening with Next-Generation Sequencing Detects Common, Uncommon, and Novel Mutations,” evaluated 71,070 patients referred for carrier screening at IVF clinics across the U.S. Good Start Genetics utilized its next-generation DNA sequencing (NGS) platform to detect mutations causative of 14 genetic disorders recommended for carrier screening by ACOG, the American College of Medical Genetics and Genomics (ACMG), and the American Society for Reproductive Medicine (ASRM).
The study’s key findings were:
• Between 15 and 26 percent of the 3,093 carriers identified by Good Start’s NGS-based platform would have been missed by the traditional screening tests being offered by the three leading competitors.
• Traditional screening tests would have missed 299 of the 403 distinct, disease-causing mutations identified by NGS.
“By design, traditional genetic screening assays have limited utility identifying carriers among an ethnically diverse patient population. This study builds on a growing body of data suggesting that next-generation sequencing meaningfully improves outcomes in genetic screening by identifying more patients at risk of conceiving a child with a debilitating or fatal genetic disorder,” said Don Hardison, president and chief executive officer of Good Start Genetics.
A second poster, titled “Carrier Screening for Spinal Muscular Atrophy Among U.S. In Vitro Fertilization Patients,” evaluated the carrier frequency for spinal muscular atrophy (SMA), a recessive and fatal neuromuscular disorder, in a fertility clinic population. While ACMG recommends that carrier screening for SMA be offered routinely regardless of patient ethnicity, ACOG does not, citing the need for additional research. In this study, 63,080 patients from IVF centers were screened to identify copy number mutations in exon 7 of the Survival Motor Neuron 1 (SMN1) gene. SMA is caused by defects in the SMN1 gene.
The study’s key finding was:
• Good Start’s SMA test detected 1,067 carriers, suggesting a pan-ethnic carrier frequency of 1 in 59. This is comparable to previously reported carrier frequencies of SMA in the general population (1 in 54) and to observed frequencies of other prevalent inherited diseases, such as cystic fibrosis.
“Spinal muscular atrophy is a devastating disease, though, to date, routine screening has not been widely recommended due to gaps in technological development and costs of testing. Our data demonstrate that the carrier frequency of SMA is relatively high, and with the widespread availability of SMA screening and the recent advances in testing and clinical knowledge, routine screening for SMA could really benefit both clinicians and patients,” Hardison added.
About GoodStart Select™ GoodStart Select is Good Start Genetics’ menu of genetic carrier screening tests that, for diseases such as cystic fibrosis, detects many more disease-causing mutations than traditional genotyping based screening tests, regardless of patient ethnicity. The product of years of development and rigorous validation, GoodStart Select includes a suite of proprietary technologies, processes and algorithms designed to harness the power of next-generation DNA sequencing (NGS), to provide highly accurate and actionable tests resulting in higher mutation detection rates and fewer missed carriers.
To support its genetic carrier screening capabilities, Good Start Genetics has a dedicated team of customer care specialists and board certified genetic counselors who provide step-by-step support, from test selection through results, analysis and reporting. Good Start Genetics seeks to enable reproductive health specialists and their patients to have the highest degree of confidence in their genetic carrier screening results.
About Good Start Genetics, Inc.
Good Start Genetics is a molecular genetics information company transforming the standard of care in reproductive medicine by providing clinicians and patients with clinically relevant and actionable information concerning inherited and other genetic disorders. Good Start Genetics’ suite of reproductive genetics products are designed to promote successful pregnancies through advanced technologies. The Company’s flagship genetic carrier screening service, GoodStart Select™, provides a comprehensive menu of tests for known and novel mutations that cause inherited genetic disorders. Good Start complements its proprietary next-generation DNA sequencing (NGS) capabilities at the core of GoodStart Select with other proven genetic screening technologies, as well as world-class customer care and genetic counseling. For more information, please visit www.goodstartgenetics.com.
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