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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www.clinicalomics.com July/August 2019 Clinical OMICs 21 year. In oncology, likewise, the number of clinically mean- ingful variants has risen to over 500. More genes that raise the risk of complex diseases are also being discovered. Today, much more genomic data is being generated at a much faster rate than ever before. And those on the frontier of this field are trying to make sure that data is as useful as possible. "Embedding genomics into clinical practice is our goal, vision, and shared passion," Garret Hampton, senior vice president, clinical genomics at Illumina said recently. While the surge in sequencing has benefited many patients, the genomic data avalanche has caused its own problems. Now, many experts see data analysis and interpretation as the biggest challenge in genomics-guided precision med- icine. This is particularly true when researchers are trying to do large studies, rather than looking at one or two specific genes. "While the hypothesized $1,000, or more recently $100, whole genome continues to get a lot of attention within our industry—there is little discussion of the reality of the $10,000 interpretation that accounts for the true level of effort associated with analyzing, interpreting, and reporting out of insightful and actionable results for large datasets," said Sean P. Scott, vice president of business development at QIAGEN. And yet, doing those large-scale studies is exactly what is needed to power the next clinical advances. Heidi Rehm, Ph.D. explained: "The infrastructure and resources we need to analyze an entire genome with 5 million variants is very different from what is needed to find and interpret a couple of variants in a single gene." Rehm is the medical director of the genomics platform of the Broad Institute and chief genomics officer in the department of medicine at Massa- chusetts General Hospital. It's not just making sure that the correct diagnoses are going to be made, it's also ensuring that analysis is being done in a standard way, from the point where the data leaves the sequencer to when the diagnosis is determined. Ideally, standards and methods would also be consistent across diverse organizations, labs, and clinical sites. That way, whatever is gleaned can be as useful as possible both to those generating it—and others who may be able to learn from it. Pipeline progress "We see continued variability in secondary analysis pipe- lines—especially research-oriented pipelines—because these workflows are developed using a variety of public and proprietary data sources, and individual labs can set different quality thresholds for the variant filtering, which impacts the (continued on next page) "Embedding genomics into clinical practice is our goal, vision, and shared passion." —Garret Hampton senior vice president, Illumina MixAll Studio / Getty Images

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