Good Start Genetics, Inc.’s NGS Technologies Detect Up To 30 Percent More Carriers Than Traditional Methods

Clinical experience using next-generation sequencing shows higher detection rates across more ethnicities when screening for cystic fibrosis, other diseases

CAMBRIDGE, Mass.--(BUSINESS WIRE)--Good Start Genetics® Inc., a commercial-stage molecular genetics information company, presented data from two studies focused on carrier screening at the 2015 American Society for Reproductive Medicine (ASRM) annual meeting. Both poster presentations show higher detection rates with the use of next-generation sequencing (NGS) over traditional carrier screening methods.

“We will continue to explore ways in which our proprietary technology may provide actionable information to clinicians, patients and their partners prior to pregnancy.”

In presenting “Next-generation DNA Sequencing: Improving the Accuracy of Routine Carrier Screening,” Dr. Nicole Faulkner and team highlight the importance of pan-ethnic screening using NGS technology. “Our findings prove that out of the approximately 65 thousand fertility patients screened using NGS technology for up to 13 Ashkenazi Jewish (AJ) genetic disorders recommended by medical society guidelines, 30 percent of the carriers detected would have been missed using more traditional genotyping screening methods,” said Dr. Faulkner. “While most medical societies recommend targeted carrier screening based on a patient’s ethnicity, next-generation sequencing allows a broader patient base to be more comprehensively screened leading to a higher detection rate of carriers. We continue to see these disease-causing mutations in so-called low-risk populations and in cases where ethnicity is not known, i.e., individuals who might otherwise not be screened.”

The second presentation by Good Start Genetics was focused specifically on cystic fibrosis variants. This study, titled “Pan-Ethnic Populations Are Enriched for Rare and Novel Cystic Fibrosis Variants,” aimed to find CFTR pathogenic variants among pan-ethnic patients from fertility clinics across the United States. This analysis concluded that NGS-based cystic fibrosis carrier screenings can identify significantly more carriers across a broader range of ethnicities. “The finding of this study brings to light the strides being made in NGS,” said Dr. Thomas Mullen, one of the study authors. “We now have the ability to identify the majority of rare variants in cystic fibrosis that other traditional technologies, like genotyping, would have missed.” Researchers found that 53 percent of the specific variants NGS-based screening was able to detect would have been missed by genotyping panels.

“We are always excited to share our clinical experience findings with our peers, and look forward to expanding the body of evidence in support of our carrier screening test, GeneVu,” said Don Hardison, president and chief executive officer of Good Start Genetics. “We will continue to explore ways in which our proprietary technology may provide actionable information to clinicians, patients and their partners prior to pregnancy.” Good Start Genetics presented at ASRM in Baltimore from October 17 -21, 2015.

About Good Start Genetics®, Inc.

Good Start Genetics is a molecular genetics information company transforming the standard of care in reproductive medicine. Its suite of reproductive genetics products provides clinicians and patients with insightful and actionable information in order to promote successful pregnancies and healthy families. Its flagship genetic carrier screening service, GeneVu™, is a comprehensive menu of highly-accurate tests for known and novel mutations that cause inherited genetic disorders, and its advanced preimplantation genetic screening test, EmbryVu™, is helping a wider range of couples find their paths to pregnancy at significantly lower costs. Good Start Genetics complements these tests and its proprietary next-generation DNA sequencing (NGS) capabilities with world-class customer care and thoughtful genetic counseling to help families prepare for tomorrow. For more information, please visit www.goodstartgenetics.com or join us on Facebook, Twitter and LinkedIn.