Clinical OMICS

JAN-FEB 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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www.clinicalomics.com January/February 2019 Clinical OMICs 27 I n the spring of 2014, Jillian Hastings Ward and her hus- band Nick welcomed their son Sam into the world. Early on, everything seemed in order. "He was a sweet little thing and we thought he was the perfect second child," she said. But when he was a couple of months old, it became apparent that Sam couldn't see and shortly afterwards he received a diagnosis of delayed visual maturation. Accord- ing to Hastings Ward, she and her husband spent the next six months coming to grips with the idea that their son might be blind. "It wasn't until he was nine months old that we were referred to pediatricians who were interested in his over- all development and the extent he was lagging behind his peers," she said. "Unfortunately, they were clear that the level of developmental delay he was showing, even at that stage, was quite a lot more than could be explained by his lack of vision." In short, there was something more significant going on than a vision problem. Nine months after his birth, Sam and his family were now on what is commonly referred to as the "diagnostic odyssey," the string of diagnoses and misdiag- noses common to patients with a rare genetic disorder. It's a journey that averages four years—and can often last seven or more years. From early 2015 through the summer, Sam was sub- jected to multiple tests in an attempt to diagnose his con- dition, including white cell enzyme testing, array CGH and whole-exome sequencing. All of them failed to pro- vide an answer. At this point, and out of other options, the doctors at St. George's Hospital in London suggested that Sam could get his whole genome sequenced under a brand-new pilot study, the 100,000 Genomes Project. "Our geneticist there explained that even though we might not get an answer for Sam," said Hastings Ward, "this new technology might interest us." As is common for rare disease research purposes, Jillian and Nick would also get their genomes sequenced under the pilot. "So there was the possibility that my husband and I would be able to find out whether we had a predisposition to cancer or other rare con- Sam's Story How the 100,000 Genomes Project Provided a Rare Disease Diagnosis (continued on next page) Sam was an early participant in the 100,000 Genomes Project. His condi- tion, caused by a mutation in the GRIN1 gene, was diagnosed about two years after his genome was sequenced, about two years sooner than the current average time for diagnosis of rare diseases. "We could see there would be benefit for our son—and potentially for us—so we signed up quite happily." —Jillian Hastings Ward

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