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Mardis and Wilson to Implement Clinical Sequencing Pipelines at Nationwide Children's Hospital

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NEW YORK (GenomeWeb) – Pioneers in the next-generation sequencing space, Richard Wilson and Elaine Mardis of the McDonnell Genome Institute at Washington University in St. Louis, are moving to Nationwide Children's Hospital where they plan to implement clinical sequencing pipelines, among other genomic technologies.

Earlier this month, Columbus, Ohio-based Nationwide Children's said it had recruited the two to spearhead a genomic medicine program at the hospital.

Wilson and Mardis discussed their impending move, which will happen in September, and some of their plans at Nationwide Children's in a recent interview with GenomeWeb.

The main goal will be to "combine research and clinical efforts so that we have the smoothest transition from what we learn in a research setting into real-time clinical assays," Mardis said.

The genomic medicine laboratory will occupy one entire floor of a new building at Nationwide Children's and include an array of sequencing and other genomic technologies. Wilson said that the hospital already has a few of Illumina's HiSeq instruments, and noted that additional Illumina sequencing instruments will be installed as well as sequencing instruments from Pacific Biosciences. "We'll take a good look at the Sequel and see how that might fit into a clinical paradigm," for things like characterizing structural variation, Wilson said.

Wilson said he also planned to use PacBio technology to continue work improving the human reference genome and to sequence other high-quality genomes.

In addition, Mardis said that they would invest in non-NGS technology, as well. For instance, she said, they are looking at NanoString Technologies' nCounter platform, which enables analysis of DNA, RNA, and proteins simultaneously. The company launched its so-called 3D Biology chemistry last September, which it has positioned to address immunoncology research, and has said that it plans to launch 15 3D Biology products by the end of this year.

The firm is also developing a sequencing chemistry for targeted applications, dubbed Hyb & Seq, but commercialization of that technology is still several years away.

Wilson and Mardis have been advocates for the use of comprehensive sequencing to guide the treatment of cancer, implementing a cancer sequencing pipeline at Wash U that includes tumor/normal exome and whole-genome sequencing, as well as tumor transcriptome sequencing. As such, comprehensive cancer sequencing will be a major focus at Nationwide Children's, they said, but will be far from the only program.

"The opportunities in pediatric diseases are more widespread than just cancer," Mardis said. For instance, exome and whole-genome sequencing have been shown to be successful at diagnosing suspected genetic diseases in children, and a number of academic medical centers and companies offer such diagnostic testing.

For both cancer and germline disorders, the genomic medicine program will focus more on comprehensive sequencing tests, but will likely still include some gene panel-based testing.

Panels are a "great start," Wilson said, but they often provide an inconclusive result. "If you can elevate to exome, whole-genome, or include RNA-seq, you can often find clues that will allow you to provide a more effective treatment" for cancer patients. "The same is true for germline disorders."

Nevertheless, "we want a very comprehensive lab," Wilson added, so, for some cases they may offer gene panels. Mardis said that the exact test would "depend on the question," adding that for a subset of patients, panels will give an answer, but for complex cases, more comprehensive sequencing-based tests will be needed.

Another goal of the genomic medicine program will be to "build a case for clinical benefit of these assays," Mardis said, to "help payors understand the benefit so that this type of testing fits into the reimbursement equation."

In addition, she said, the group plans to work closely with the US Food and Drug Administration to determine whether their sequencing-based tests and protocols should be brought through regulatory approvals.

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