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HudsonAlpha Taps MCW Team for New WGS Dx Center; Initial Focus on Rare Disease


NEW YORK (GenomeWeb) – The HudsonAlpha Institute for Biotechnology's new Center for Personal Genomics will focus initially on diagnosing rare disease and has brought on board a number of staff from the Medical College of Wisconsin, including Howard Jacob, who will serve as the center's vice president for medical genomics and chief medical genomics officer.

The center will make use of HudsonAlpha's existing next-generation sequencing equipment and resources, including its CLIA-certified Genomics Services Laboratory, which will enable it to perform whole-genome sequencing on the Illumina HiSeq X Ten, the HiSeq 2500, or the NextSeq 500, Shawn Levy, director of HudsonAlpha's Genomic Services Laboratory and the new center's head, told GenomeWeb.

In conjunction with the new center, HudsonAlpha is establishing a genetics clinic in partnership with the University of Alabama, Birmingham that is projected to be up and running this September, and the team will also work closely with Bruce Korf, who is heading up UAB's Undiagnosed Disease Program.

Along with Jacob, a number of other MCW staff will join HudsonAlpha's Center for Personal Genomics, including Elizabeth Worthey, who was director of genomic informatics; David Bick, medical director of genetics at Children's Hospital of Wisconsin; Kimberly Strong, an assistant professor of bioethics and medical humanities; and Josef Lazar, an associate professor and physician who specializes in translating genetic tests into patient diagnoses.

Jacob said that his goal in moving to HudsonAlpha is to "figure out how to get more hospitals, clinics, [and] physicians using genomic sequencing." Essentially, the move will bring MCW's "undiagnosed disease core to a place with a massive amount of sequencing firepower," Jacob said. "Quickly, you go from having two sites that are really good at part of this, to being really good at all sides."

MCW has been a leader in moving next-gen sequencing into the clinic, particularly for diagnosing rare diseases and was among the first to use sequencing to successfully diagnose a rare condition and then use the results to determine an appropriate therapy for the patient. 

Jacob said that even with his departure and that of four of his colleagues, the clinical whole-genome and exome sequencing services offered by MCW and Children's Hospital of Wisconsin would continue, and MCW would search for a new head of its human and molecular genetics center.

The initial focus for the new center at HudsonAlpha will be rare disease, Jacob said. Although each rare disease affects less than 200,000 individuals in the country, in total, there are some 20 million individuals who are affected, he said.

Diagnostic sequencing has also demonstrated in numerous cases now that it can be effective at not just identifying the cause of an individual's disease, but enabling better care, Levy said. He cited a recent case at HudsonAlpha of a child who had been diagnosed with autism, but whose molecular cause was unknown. Sequencing clarified the diagnosis as an atypical presentation of Rett syndrome, Levy said.

"Her treatment plan, access to resources, and quality of life has been tremendously improved," he said. "For the right cases, [whole-genome sequencing] is extremely valuable."

Levy added that the genetics clinic being established in conjunction with UAB would "provide a framework to see patients from anywhere in the country," and establish a "continuity of care" to facilitate those patients being sequenced for diagnostic purposes if need be.

Jacob added that a component of MCW's clinical sequencing services that made it so successful was the close working relationship between those working in the sequencing laboratory and the physicians taking care of patients. The goal of the UAB clinic will be to provide that same overlap between patient care and sequencing-based diagnostics.

Jacob said that he would push for whole-genome sequencing as the primary tool. "My preference is to do the whole genome and if need be report a smaller subset [of genes]," he said. He prefers this approach to just targeting a handful of genes because "if you don't find what you're looking for, you have to start all over again."

HudsonAlpha recently purchased the Illumina HiSeq X Ten system, which can sequence more than five genomes per day at a cost of around $1,000 per genome. Levy said that HudsonAlpha has now validated its whole-genome sequencing workflow in its CLIA-certified Genomics Services Laboratory on the HiSeq X Ten, as well as on the HiSeq 2500 and NextSeq 500 and is currently offering physician-prescribed clinical whole-genome sequencing.

Going forward, Levy said decisions about which machine to perform sequencing on would depend on the project and specific needs of the patient.

Jacob added that actual costs for a routine care diagnostic whole genome would range between $2,800 and $6,000, depending on the amount of analysis required. For urgent cases that may require a 22-hour run on the HiSeq 2500, for instance, costs could run higher, but Jacob said that is something the team is still analyzing.

The team is also still working out its strategy for reporting secondary findings, Jacob said. "Our intent will be to give the patients or parents/guardians the ability to have input on what types of data should be analyzed and what types of data should be returned," he said.

While at MCW, Jacob and the clinical sequencing team advocated for as much patient/family autonomy as possible and spoke out against the American College of Medical Genetics and Genomics' initial recommendations that incidental findings in a list of medically actionable genes be returned by the laboratory no matter what.

"We favor giving the patients the ability to make choices," Jacob said, "although, we have not set a standard around it yet."

The HudsonAlpha center will also have to figure out its strategy with regards to reimbursement. While at MCW, Jacob's team had made significant progress in obtaining reimbursement for its whole-genome sequencing tests, and Jacob said that the team would have to essentially go through the same process in Alabama — building relationships with physicians, patients, and payors to demonstrate that whole-genome sequencing has clinical utility and can be done responsibly.

He anticipated that although gaining reimbursement would be a challenge, due to the number of labs now offering such testing, there is growing evidence that it is both clinically useful and also cost effective, so ultimately payors would reimburse.

"More and more people are doing [clinical sequencing], and there's more and more evidence," Jacob said. "We have to continue to show that this is important for the patient at a price that's actually sustainable."

Although rare disease will be the Center for Personal Genomics' initial focus, Jacob and Levy said that it would eventually expand into other disease areas like cancer and other more common diseases, and it would also establish a clinical transcriptome sequencing workflow.