March 31, 2017 | News, products, and partnerships from around the diagnostics community including news from HudsonAlpha, JAX, Thermo Fisher, and more.
HudsonAlpha Institute for Biotechnology announced the Insight Genome for people interested in unlocking the secrets of their genome, or genetic code. Insight Genome offers clinical whole genome sequencing and pharmacogenomic testing for current and future healthcare planning. “Insight Genome was developed specifically to tell patients today about their risks for developing specific medical conditions-- or passing them onto their children-- and to help inform future healthcare decisions,” Howard Jacob, HudsonAlpha executive vice president for genomic medicine, said in a statement. “Whole genome sequencing offers information not found in one comprehensive tool elsewhere,” continued Jacob. “Many people have heard us talk about rare, undiagnosed disease and how do we apply this technology, but the holy grail is how do we deploy this for everybody?” Press release
Combining single-cell genomics and computational techniques, a research team including Paul Robson, director of single-cell biology at The Jackson Laboratory (JAX), has defined cell-type composition of cancerous cells from 11 colorectal tumors, as well as adjacent noncancerous cells, a key to more targeted diagnosis and treatment. “Using single-cell signatures,” says JAX Research Scientist Elise Courtois, co-first author of a study published in Nature Genetics, “colorectal cancers can be further divided into subgroups based on cell-type composition of tumors. Because each of these subgroups has a different survival probability, our approach can provide oncologists with better information about prognosis and treatment options.” Robson and co-senior authors Shyam Prabhakar, a computational biologist at the Genome Institute of Singapore, and Iain Beehuat Tan, a medical oncologist at the National Cancer Centre Singapore, led an effort that screened 626 randomly selected individual cells from the colorectal tumors and adjacent normal cell samples using single-cell RNA sequencing. These findings, Robson notes, show promise for even more refined classification of colorectal and other tumors in the future. “And as the cost of single-cell transcriptomic analysis continues to drop, oncologists can access better tumor profiling to guide the treatment of cancer patients,” he said in a statement. Press release
A new high-throughput, microarray-based assay designed to detect more than 6,000 genomic variations associated with inherited disease now provides molecular genetics laboratories with a consolidated and automated, single pan-ethnic solution for expanded carrier status research. Thermo Fisher Scientific announced the CarrierScan Assay at the 2017 ACMG Annual Clinical Genetics Meeting and will make it available in April. According to the American College of Obstetricians and Gynecologists (ACOG), carrier screening was traditionally targeted toward specific populations known to have an increased risk of particular disorders. However, the growing ethnic diversity among global populations, coupled with advances in genetic research technologies, has led ACOG to update its screening recommendations. Published in the March 2017 issue of Obstetrics & Gynecology, the new guidance calls for a standard approach that could be consistently offered and discussed during family planning regardless of ethnicity. “The recently updated recommendation from ACOG to offer a consistent approach for carrier screening speaks to the growing need for genetic information that could be used for family planning in the future, particularly for those with elevated risk of recessive mutations carrier status,” said Doron M. Behar, CSO of Gene by Gene, in a statement. “Launch of CarrierScan will be an important advance for our lab’s clinical research. It’s optimized chemistry and coverage, plus consolidated format that is truly comprehensive for pan-ethnic screening research, can’t be matched.” Press release
Cynvenio Biosystems announced the availability of ClearID Total Insight Breast Cancer, a liquid biopsy monitoring service for patients in treatment and survivors in remission. This comprehensive assessment of a patient’s biological health is designed to measure immune health status and detect genetic mutations associated with cancer. ClearID Total Insight is generally performed at regular intervals throughout the year and consists of four ClearID DNA sequencing tests, four NK-Score immune system assessment tests, and a BRCA 1 & 2 test provided by Cynvenio’s previously announced partner Color Genomics. The Color test identifies 30 of the most common hereditary cancer genes. A 12-month course of ClearID Total Insight monitoring costs less than a single DNA sequencing test advertised by other genomic testing companies. It is the first test of its kind conceived to support serial genomic and immune system monitoring at a price point acceptable to doctors, payors, and patients. The information provided by the ClearID Total Insight monitoring program can aid physicians in drug selection, risk assessment, treatment stratification, evaluation of drug resistance, and selection of monitoring frequency for their patients. Press release
Healthcare information technology firm NextGxDx has announced that it is now Concert Genetics. The change is intended to reflect the company's mission of providing data-driven tools to connect, unify and simplify the world of genetic testing for stakeholders across the healthcare system – including hospitals and health systems, clinicians, health plans, labs and governing organizations. "Our business, like the broader genetic testing industry, has grown and evolved significantly since I founded the company," said Mark Harris, chief innovation officer of Concert Genetics, in a statement. "Initially we focused exclusively on building a solution to connect genetic testing laboratories and clinicians, transforming the process of identifying, comparing and ordering genetic tests. Today our reach and mission is much greater, and we are proud to announce a new name that represents our work, culture, and where we're headed as a company." Press release