Good Start Genetics, an innovative molecular diagnostics company developing the new gold standard for routine carrier screening in clinical practice, will announce later today positive results of a validation study of its proprietary next-generation DNA sequencing platform.
In the study, to be presented at the annual meeting of the American Society for Reproductive Medicine, Good Start Genetics' sequencing test accurately detected disease-causing mutations in genes associated with genetic disorders.
In the validation study, researchers applied proprietary methodologies comprising multiplex gene capture, sequencing and computational analyses to analyze DNA samples previously confirmed to contain 93 disease-causing mutations. Each of the mutations are widely accepted by the medical community as causing disorders recommended for carrier screening by national professional healthcare organizations. (In this validation study, Good Start Genetics evaluated its platform on a sample of eight, guidelines-recommended disorders.) In this study, the next-generation sequencing test accurately identified all 93 disease-causing mutations present in the DNA samples.
"Reproductive healthcare professionals have long followed guideline recommendations for carrier screening of their patients planning pregnancy," said Michael Alper, M.D., Medical Director & Reproductive Endocrinologist, Boston IVF. "However, conventional screening methods in clinical practice have, to date, been limited due to technology that analyzes a relatively small number of mutations in a specific gene. Another limitation was untenable costs and limited accessibility associated with first generation Sanger sequencing. Given recent advancements with next-generation sequencing, such as those utilized in this study, we will soon be able to make this technology widely accessible and apply it to routine clinical practice."
According to figures from the U.S. Human Genome Project, there are more than 6,000 known single-gene disorders, which in aggregate affect about 1 out of every 200 births. National organizations such as the American Congress of Obstetricians & Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) recommend that preconception and prenatal carrier screening be made available for couples for a number of genetic disorders. Carrier screening for these disorders allows healthcare providers and their patients to better understand the risks of the patient being a carrier of a genetic disorder, and, therefore, the risk of passing that gene or disease on to their offspring.
"We are very encouraged by the results of this study, and we believe they add to the growing body of evidence supporting next-generation sequencing. Because of its accuracy, cost-effectiveness and comprehensiveness, we expect our next-generation sequencing approach to replace genotyping as the technology-of-choice for genetic testing in clinical practice," said Gregory Porreca, Ph.D., company founder and Director of Technology, who presented the study results at ASRM. "As Good Start Genetics prepares to move its sequencing platform into the clinical setting, we are confident that physicians will find our technology to be a highly accurate and cost effective way to screen for guideline-recommended disorders."
The study abstract (#0201) is titled, "A Novel Next-Generation DNA Sequencing Test for Detection of Disease Mutations in Carrier and Affected Individuals," and is available online at www.asrm.org.
Routine genetic carrier screening in clinical practice has traditionally employed targeted mutation analysis technologies for genotyping, which, due to cost considerations, are designed to detect only a small number of the most common disease-causing mutations that are prevalent in only specific populations. The next-generation sequencing platform developed by Good Start Genetics, however, allows for a more comprehensive determination of carrier status in routine clinical practice because it is not limited to a small targeted mutation set and, therefore, can achieve high clinical sensitivities regardless of ethnicity. Because this platform is highly scalable, it overcomes the cost limitations of the older, first-generation Sanger technique, which although also highly accurate, has had very limited use in routine clinical practice.
Good Start Genetics' next-generation sequencing platform is a highly accurate, high-throughput platform that is expected to yield high detection rates (regardless of ethnicity) through the detection of both common and novel disease-causing mutations associated with recessive genetic disorders. Based on the positive validation study results, Good Start Genetics will begin offering testing services to U.S. fertility clinics through its state-of-the-art, CLIA-approved lab, which will include tests for all genetic disorders recommended ACOG, ACMG, and several national Jewish advocacy organizations.
About Good Start Genetics
Good Start Genetics is setting the new gold standard in carrier screening in routine clinical practice by making testing for the most comprehensive set of known and novel disease-causing mutations accessible. After years of development and rigorous validation, Good Start Genetics has harnessed the power of next-generation sequencing and other best-in-class technologies to provide highly accurate, actionable, and affordable tests for all ACOG-and ACMG-recommended disorders. For these reasons, fertility specialists and their patients can have a high degree of confidence in their carrier screening results, and no longer have to compromise accuracy for price.
These tests were developed and their performance characteristics determined by Good Start Genetics?. They have not been cleared or approved by the U.S. Food and Drug Administration. However, the laboratory is regulated under the Clinical Laboratory Improvement Amendments (CLIA) as qualified to perform high complexity clinical testing and the tests have been analytically validated in accordance with CLIA standards.
Source: Good Start Genetics