Clinical OMICS

MAY-JUN 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 May/June 2019 Clinical OMICs 5 Genomics Medicine Ireland Opens Dublin Clinic for Precision Medicine Research Genomics Medicine Ireland (GMI), the recently acquired Irish sub- sidiary of WuXi NextCode, has opened a research clinic in Dublin's City Centre hub, with the goal of advancing precision medicine research and discovery in Ireland. The new research clinic will allow for the expansion of Ireland's first large-scale research study into the role of genetics on fit- ness and health. The GenoFit Research Study, launched in 2017 by GMI and University College Dublin (UCD)'s Institute for Sport and Health, combines analysis of detailed lifestyle information and advanced scientific technology in genomics, with the goal of providing a comprehensive view of potential genetic factors contributing to fitness and health. The GenoFit research study has attracted more than 3,000 participants since its launch. "This new City Centre clinic will bring genomics to the people, making it much easier for the public to get involved in our studies," GMI CEO Anne Jones, Ph.D., said in a statement. "More participants means richer data and better research results and this new clinic will help considerably in realizing our goal of participation from 1 in every 10 people in Ireland." n Genomics England Reports Positive First Phase of Cancer ctDNA Study Genomics England has generated positive results from the first phase of a collabora- tion with Inivata and Thermo Fisher Sci- entific designed to study the use of liquid biopsies in cancer diagnosis and care. Inivata and Thermo Fisher analyzed about 200 blood plasma samples donated by 100,000 Genomes Project participants for their suitability for next generation sequencing (NGS)-based testing. The col- lection methods were shown to allow for circulating tumor DNA (ctDNA) analysis, opening up possibilities for further analy- sis of banked samples using liquid biopsy technology such as those provided by Ini- vata and Thermo Fisher Scientific. "The successful end of this initial phase demonstrates the quality of the sample collection from all sites and will enable the exploration of a number of ways of providing further insights to patients," Ini- vata CEO Clive Morris stated. n AI IDs Potentially Life-Threatening Genetic Disease Using EHRs A Stanford University-led team of scien- tists has developed a machine learning tool that can analyze electronic health- care records (EHRs) to identify individu- als likely to have familial hypercholester- olemia (FH), an underdiagnosed genetic cause of elevated low-density lipopro- tein (LDL) cholesterol, which puts pa- tients at a 20-fold increased risk of coro- nary artery disease. In separate test runs, the classifier, described in npj Digital Medicine, correctly identified more than 80 percent of cases—its positive predic- tive value (PPV )—and demonstrated 99 percent specificity. The team says the classifier could help to flag patients who are most likely to have FH, so that they and their families can undergo further genetic testing. "The- oretically, when someone comes into the clinic with high cholesterol or heart dis- ease, we would run this algorithm," said Nigam Shah, Ph.D., Stanford University associate professor of medicine and bio- medical data science. "If they're flagged, it means there's an 80 percent chance that they have FH. Those few individuals could then get sequenced to confirm the diagnosis and could start an LDL-lowering treatment right away." n Nadia Richie Studio / magezoo / Getty Images pawel.gaul / E+ / Getty Images

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