Good Start Genetics® Announces The Expansion of its NGS-Based Carrier Screening Service
News Oct 26, 2012
Good Start's screening services centers on the revolutionary, next- generation DNA sequencing platform - which can detect far more disease-causing mutations than the older, genotyping-based platform - with the goal of providing the highest carrier detection rates possible.
In addition to its menu of pan-ethnic tests (e.g. cystic fibrosis, fragile X syndrome and spinal muscular atrophy), tests for hemoglobinopathies (sickle cell anemia, alpha thalassemia and beta thalassemia) and routine tests for the Ashkenazi Jewish population, Good Start now offers the following additional tests: dihydrolipoamide dehydrogenase deficiency, familial hyperinsulinism, glycogen storage disease type 1a, Joubert syndrome 2, maple syrup urine diseases type A/B, nemaline myopathy, Usher syndrome type 1F, Usher syndrome type III, and Walker-Warburg syndrome.
Good Start performs testing in its CAP- and CLIA-accredited, state-of-the-art laboratory facility located in Cambridge, MA, and has built a dedicated team of customer care specialists, genetic counselors and board certified medical geneticists to support patients and clinics. Good Start works closely with patients and their insurance providers to simplify the billing and payment process. In addition, as part of its mission to provide accurate, simple and responsible testing, Good Start has launched a new web site, which includes patient and physician-friendly tools that facilitate in the test selection process. (Good Start's test menu can be customized for each patient based on family history, patient ethnicity, or any other criteria the clinician deems important.)
"Reproductive healthcare professionals have long followed guideline recommendations for carrier screening for their patients planning pregnancy," said Michael Alper, M.D., Medical Director & Reproductive Endocrinologist, Boston IVF. "However, conventional screening methods have, to date, been limited by either their rigidity or the relatively small number of mutations that can be analyzed in a specific gene. Given recent advancements with the next-generation sequencing technology, we are pleased to be able to offer Good Start's technology to our patients in routine clinical practice."
"We are excited to make these additional tests available, and to meet the growing screening needs of new families and those wishing to start families," said Don Hardison, Good Start Genetics President and Chief Executive Officer. "And, using our next generation sequencing platform, we are already detecting mutations that other laboratories simply cannot. With this powerful technology, combined with our intense customer focus, we are confident we are delivering the best screening experience possible for patients and clinicians and, most importantly, critical information that can help increase a couple's chance of having a healthy baby. As a result, we expect that our sequencing-based approach to screening will continue to replace older, genotyping-based approaches and solidify our reputation as a leader in the carrier screening market."
Previous work by the International Multiple Sclerosis Genetics Consortium (IMSGC) has identified 233 genetic risk variants. However, these only account for about 20% of overall disease risk, with the remaining genetic culprits proving elusive. A new study has tracked down four of these hard-to-find genes.READ MORE
Scientists at McGill have found the answer to a question that perplexed Charles Darwin; if natural selection works at the level of the individual, fighting for survival and reproduction, how can a single colony produce worker ants that are so dramatically different in size – from “minor” workers to large-headed soldiers with huge mandibles – especially if they are sterile?