Clinical OMICS

JUL-AUG 2019

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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20 Clinical OMICs July/August 2019 Malorye Allison Branca Contributing Editor Sequencing's new frontier is clinical interpretation D avid FitzPatrick's typical patient is a toddler with global developmental delay who is small for her age, has epilepsy, and cannot speak or understand speech. Often there is no family history of similar symptoms and the parents will report no problems with the pregnancy and birth. The child will have undergone all the standard testing for metabolic disease, had a brain MRI, and also been tested for chromosomal anomalies. All test results are normal. FitzPatrick and his colleagues will then turn to next-generation sequencing (NGS) to try and find an underlying cause of the child's condition. And for some of these patients, they'll succeed. While those types of patients have continued to regularly come through his door, FitzPatrick has seen one major change over time. "We're able to diagnose a lot more of them," he said. "Now, I even have patients I've been seeing for 15 years without being able to give them an answer. We take the original samples, retest them, and we finally have a diagnosis for them." FitzPatrick, Ph.D., is a professor in the Medical Research Council Institute of Genetics and Molecular Medicine at the University of Edinburgh, and he sees patients at the Royal Hospital for Sick Children in that city. Currently, his team can perform a whole exome analysis in 3–4 weeks, and "we have a 50% chance of finding a full explanation for any one of these children's problems," he added. That's compared to about a 30% chance just a couple years ago. It's a tipping point in the clinical application of genetic sequencing. Today it's much faster and easier to do sequencing and the cost has dipped dramatically. Pre- natal testing for genetic diseases has exploded and is estimated to become a $5 billion global market by 2027. Approximately 250 new rare diseases are found each The Age of Analytics Stephen Kingsmore, M.D., president and CEO, Rady Children's Institute for Genomic Disease

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