Clinical OMICS

MAY-JUN 2018

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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Page 20 of 51 May/June 2018 Clinical OMICs 19 cer risk test, the company's third de novo authorization. In 2015, the company was authorized to market the first direct-to-consumer genetic test for Bloom Syndrome, enabling the company to bring 40+ carrier status reports directly to cus- tomers. And in April 2017, 23andMe won FDA authorization to market the first direct-to-consumer genetic health risk reports. But even DTC tests with 99.9% accuracy, Ramos said, leave open the possibility of errors in the reporting of variants. DTC companies typically report results on a fraction of genetic variants for which they may test. "The quality within each of those variants that are reported in the raw data can be extremely variable," Ramos said. "While it's true that these microarray chips generally have a very high degree of accuracy as a whole, when you're looking at a million different variants, even if it's 99.9% accurate, there are going to be errors in that sequencing." Errors could arise, she said, if the original sequence data calls were incorrect, or if third-party data tools misinterpret the raw data. Adds 23andMe: "We are extremely confident in the accuracy of the detailed results we provide to our customers. As we clearly state in our product, we do not recommend cus- tomers take 23andMe's raw, uninter- preted data to other third-party sites as we cannot account for the accuracy of those services." Unlike 23ndMe, which allows indi- viduals to order its tests online, Color Genomics requires that its tests be ordered by a patient's physician or one from its network of indepen- dent physicians. Color offers tests for BRCA, hereditary cancer, hereditary high cholesterol, and hereditary heart health. Those tests are marketed to consumers as well as physicians. Color Genomics said the study was not reflective of its testing, which it equated to Ambry's since its test is diagnostic and uses NGS technol- ogy that analyzes the full gene in its CLIA-licensed and CAP-accredited laboratory. "Our work has been to make it much easier and accessible to order clinical grade diagnostic testing along with complimentary genetic counsel- ing with board-certified genetic coun- selors, that could provide people with knowledge of their risk for hereditary conditions such as cancer and heart disease," a Color Genomics spokes- person said. Caplan said DTC genetic testing overemphasizes genes at the expense of environmental and behavioral factors contributing to disease. For instance, someone at risk of asthma may be exposed to too much pollution. "I'm not convinced that even finding out you're at risk of something leads people to do anything," he said. "In some instances, there's nothing they can do. There's no lifestyle change that would reduce the risk. In other cases, they don't do anything because just knowing the risk doesn't necessarily lead to behavior change," Caplan also cited the approximately 40% of U.S. adults reported as obese during 2015–2016 by the National Center for Health Statistics: "There's a sophisticated technology that's called a bathroom scale. As you stand on the scale, it's giving you a prediction about risk. How are we doing in terms of changing behavior? Not too good." Angle Enrolls First Patient in Trial of Parsortix CTC Liquid Biopsy Liquid biopsy developer Angle said it has enrolled the first patient for its ANG-002 clinical study, designed to assess its Par- sortix PC1 system in patients with met- astatic breast cancer. The clinical study (NCT03427450) is intended to support FDA clearance of Parsortix PC1 as an in vitro diagnostic device. Angle says it is seeking to become the first company to receive FDA Class II clearance for a test de- signed to harvest intact circulating tumor cells (CTCs) from patient blood for subse- quent analysis. "This would be a key step in establish- ing the Parsortix system as the system of choice for CTC liquid biopsy, secur- ing a leading position in the emerging multi-billion-dollar liquid biopsy market," Angle founder and CEO Andrew Newland said in a statement. Parsortix uses a disposable micro- scope slide–sized cassette to capture and harvest CTCs from the blood samples of patients, based on the cells' size and compressibility. The platform uses a step- based reverse flow system that, according to Angle, allows the easy harvest of viable cells for analysis. Researchers from The University of Texas MD Anderson Cancer Center are leading the clinical study, which involves recruitment of 200 metastatic breast can- cer patients and 200 healthy volunteers enrolled at leading U.S. cancer centers. n bluecinema / Getty Images

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