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 new data further exemplifying the clinical value of the GoodStart SelectTM carrier screening test were presented this week at the at the 2013 American Society for Reproductive Medicine (ASRM) Annual Meeting being held in conjunction with the International Federation of Fertility Societies (IFFS). The data demonstrate that 8.4% of carriers of genetic diseases would have been missed using other available technologies.

Accurate carrier screening provides couples with the personalized genetic information needed to best understand the risks of conceiving a child with a debilitating or fatal inherited disease prior to becoming pregnant, stated Don Hardison, president and chief executive officer of Good Start Genetics. Our goal is to deliver the premier solution for genetic screening in reproductive medicine, and be the preferred partner for the development of clinically relevant and commercially viable NGS-based diagnostics in reproductive medicine and beyond. These data further reinforce the differentiated accuracy and clinical relevance our product brings to the carrier screening market and to couples seeking to make informed decisions prior to undertaking the financial and emotional investment of in-vitro fertilization.

Enhanced Detection through Next Generation Sequencing

In a poster presentation titled, Carrier Screening Of 16,500 IVF Patients Utilizing Next Generation DNA Sequencing Detects Common, Rare and Otherwise Undetectable Mutations Across Society-Recommended Diseases, data demonstrate that Good Start Genetics NGS platform detected significantly more mutations than common screening assays, specifically 39% of distinct disease causing mutations detected by NGS would have been missed with traditional screening. In a clinical setting (in vitro fertilization (IVF) centers across the US), evaluating 16,481 patients, 771 pathogenic mutations among 15 genes were detected. Had traditional screening assays been used, 8.4% (95% CI: 6.6-10.6) of all carriers identified across these diseases would have been missed. Excluding cystic fibrosis (a well-characterized disease), 19.4% (95% CI: 14.7-24.7) of carriers would have been missed, vastly increasing the risk of a reproductive couple conceiving a child with a debilitating or fatal genetic disorder. The data were presented in program number P048.

Validation of Disease-Causing Mutations

In a second poster presentation, A Rigorous Process for Selecting an Optimal Mutation Set for Population-Based Carrier Screening, the authors describe the identification, pathogenic confirmation and curation of known human genetic mutations that cause genetic disorders recommended for screening by leading medical societies. Through a clinically-focused review of more than 1,000 publications and annotation of more than 2,700 variants, the researchers built and validated a comprehensive yet highly specific set of 975 mutations for 15 genes, with the clinical goal of increased carrier detection rates and avoidance of variants of unknown significance. The data were presented in program number P018.

ASRM is a multidisciplinary organization dedicated to the advancement of the art, science and practice of reproductive medicine. The 2013 ASRM Annual Meeting is dedicated to transforming reproductive medicine worldwide and is attended by global thought-leaders and practitioners from the reproductive health community, including reproductive endocrinologists, embryologists and allied health professionals.

IFFS represents most of the worlds scientific and clinical societies working with IVF, and assisted reproduction generally. Founded in 1951, the mission of IFFS is to stimulate basic and clinical research, disseminate education and encourage superior clinical care of patients in infertility and reproductive medicine worldwide.

About GoodStart Select

More here:
New Data Show That ~10% of Carriers Good Start Genetics Detects Are Missed by Conventional Screening Tools

Comments are closed.