Clinical OMICS

MAY-JUN 2017

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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www.clinicalomics.com May/June 2017 Clinical OMICs 13 The Vancouver Clinic Implements ActX Genomic Decision Support within Epic Multi-specialty healthcare provide The Vancouver Clinic recently announced it would work with genomic decision sup- port company ActX to integrate genomic information with its Epic electronic health record. The integration will enable the clinic's 250 providers to receive genomic information via the EHR to aid in treatment and care decisions based on a patient's genetic profile. " The ability to use a patient's indi- vidual genomic infor- mation as we care for them, and to consider this as we make treat- ment decisions about the use of medication, will make a powerful difference in our ability to give people the very best care available. We are very excited to bring these cutting-edge tools to our patients," said Marcia Sparling, M.D., medical director for operations and IT at The Vancouver Clinic. "This is an evolving area of medicine, and this tool will only become more powerful with time." In addition to allowing clinicians to use the genomic data for providing pre- cision therapies and to help manage hereditary health risks, the ActX platform will also alert doctors about potential adverse drug reactions, or provide dos- ing information based on the patient's genetics. "You can make a [software-based approach] run relatively fast, but then you're going to have to throw a super computer at it to get it down to an hour," he added. Software-based approaches require more CPUs to pro- cess next-generation sequencing data quickly, and that kind of computing power doesn't come cheap. "Cloud providers charge a dollar amount per instance, per hour," Stone explained. "The only way to decrease the cost is to use an FPGA where you can use one instance to analyze a genome in ten minutes." Edico Genome and Congenica already have mutual clients who use DRAGEN and Sapientia, includ- ing researchers in the U.K.'s 100,000 Genomes Project and the University College of London's (UCL) Rapid Pediatric Sequencing Project. The lat- ter is a pilot study designed to evalu- ate the effectiveness of using whole genome sequencing to diagnose rare pediatric diseases that emerge in an intensive care clinical set- ting—a place where minutes matter. When Clinical OMICs spoke with Stone, he had just attended Rady Children's Frontiers in Pediatric Genomic Medicine Conference: "It's really like an episode of House every time. You have no idea what's wrong, the baby's presenting a set of symp- toms, and the situation is just contin- uously deteriorating by the minute." The case study, Precision Medicine for Newborns by 26-Hour Whole G e n o m e S e q u e n c i n g , p ro v i d e d examples of how genetic sequencing technology, like DRAGEN, is being used to save children's lives at Rady Children's Hospital (see page 15). Rare metabolic diseases, such as molybdenum cofactor deficiency, which causes seizures and neurologi- cal damage and can cause irreparable harm and even death if not promptly diagnosed and treated. "If you have a child who has been seizing for six weeks, which is what conventional genetic testing takes, that child is going to be severely intellectu- ally impacted," explained David Dimmock, M.D., medical direc- tor of Rady Children's Hospital's Genomics Institute. Dr. Dimmock and his colleagues esti- mate that early diagnosis of a genetic disorder would change the care of 15,000 to 20,000 children a year in the U.S. that end up in high-level newborn intensive care units (NICU). Unfortu- nately, many children's hospitals have limited genetics services, which pre- clude access to diagnostic testing using whole exome or genome sequencing for children suffering from these disorders. The "simplistic, straightforward- ness at the user-end of these kinds of packaged tools actually increases the market penetration of actual sequenc- ing," commented Dr. Dimmock on the usability of DRAGEN. The formal partnership between Edico Genome and Congenica will allow them to integrate their technologies into a single, robust, low-cost, easy-to-use system that can provide rapid diag- nosis from DNA sequencing—making it more affordable and accessible for hospitals and patients. pandpstock001 / Getty Images "[Sapientia's] beauty is that it brings all of the information required for variant interpretation together in a single, dynamic interface."— Shikha O'Brien, Ph.D.

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