CAMBRIDGE, Mass., Oct. 18, 2016 /PRNewswire/ -- Today, Good Start Genetics announced its plans to present data from three scientific studies at the annual meeting of the American Society of Human Genetics. Data within the studies highlight the company's scientific leadership in carrier testing and preimplantation genetic screening (PGS). The studies cover new research on HBB/HBA1/HBA2 gene testing, SMA gene testing, and the validation of the company's PGS test for the calling of segmental aneuploidy. The study on PGS has been selected as a Reviewers' Choice Abstract, which recognizes abstracts that scored within the top 10 percent of abstracts selected for poster presentation. The studies will be presented by Mark Umbarger, VP of Research and Development; Eric Boyden, Principal Scientist; and Mei Zhu, Assistant Technical Director.
Good Start Genetics will present the following abstracts:
Identification and Characterization of Rare Hemoglobin Variants: Experience at Good Start Genetics
This presentation will cover Good Start Genetics' approach to carrier screening for hemoglobinopathies involving the HBB and HBA1/HBA2 genes. Sequencing of these genes is preformed as a reflex for those individuals with variant peaks on hemoglobin electropherograms. In addition to common variants, 31 rare or novel hemoglobin variants were identified. In order to better counsel patients, more research is needed to determine the clinical implications of passing on these variants.
High-throughput Screening for SMN1 "2+0" Copy Number Status by Next-generation Sequencing
This presentation will cover the use of Good Start Genetics' targeted NGS technology to more sensitively detect carriers of spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disorder that is often lethal for infants. The team will show that by using this technology they are able to identify genetic markers that often indicate the presence of two functional copies of the SMN1 gene on the same chromosome. Individuals with such a gene arrangement who carry zero copies of SMN1 on the paired chromosome are often misdiagnosed as non-carriers with traditional screening approaches, and hence detecting these markers can offer an improvement in testing sensitivity.
Accurate Detection of Segmental Aneuploidy in Preimplantation Genetic Screening Using Targeted Next-Generation DNA Sequencing
This presentation will cover Good Start Genetics' validation of its NGS-based PGS assay's for the calling of segmental aneuploidy. Using a combination of cell-line derived samples and simulations, Good Start Genetics was able to conclude that in addition to whole chromosome abnormalities, the company's PGS test can accurately detect segmental aneuploidies of 10 Mb or greater across the genome.
About Good Start Genetics
Good Start Genetics is an information solutions company delivering best-in-class genetics offerings to growing families. Using advanced clinical sequencing, proprietary methods and information tailored to the individual, the Company's suite of offerings arms clinicians and patients with insightful and actionable information to promote successful pregnancies and help build healthy families. The newly launched VeriYou broadens the Company's product portfolio to deliver carrier screening to families of all economic backgrounds. 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 proprietary and advanced preimplantation genetic screening test, EmbryVu, based on technologies exclusively licensed from Johns Hopkins University School of Medicine, is helping a wider range of couples find their paths to pregnancy at significantly lower costs. Good Start Genetics complements these offerings with world class customer care and genetic counseling to help families stay well-informed and best prepare for tomorrow. For more information, please visit www.goodstartgenetics.com or join us on Facebook, Twitter and LinkedIn.
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SOURCE Good Start Genetics, Inc.