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HudsonAlpha's Genomic Medicine Clinic Will Offer Diagnostic WGS for $6K


NEW YORK (GenomeWeb) – The HudsonAlpha Institute for Biotechnology has opened a genomic medicine clinic that will offer whole-genome sequencing to diagnose rare disease.

The Smith Family Clinic for Genomic Medicine was named after Mark Smith, a founding board member of HudsonAlpha and philanthropist who passed away in 2007.

David Bick will serve as the clinic's medical director and Howard Jacob as chief medical genomics officer of the clinic. Jacob is also executive vice president for genomic medicine at HudsonAlpha.

The clinic was first announced in April, when Jacob, Bick, and several others joined HudsonAlpha from the Medical College of Wisconsin to launch the new center.

At the time, the team had not decided whether the clinic would offer whole-genome or exome sequencing, targeted panels, or all of the above. Jacob said he pushed solely for whole-genome sequencing.

"Our experience over time has been that whole-genome sequencing provides a better dataset for the care team to use to help with the diagnosis," he told GenomeWeb. "We've believed this for a long time but the challenge has been [figuring out] how to set up an environment where that is the sole focus."

In addition, he said, he expects that patients who have already had extensive genetic testing will be referred to the clinic, so being as comprehensive as possible made more sense.

"Having a clinic focused on whole-genome sequencing, we can serve as a learning ground for how to do it better and how to benefit patients and physicians," he added.

Sequencing will be done on Illumina's HiSeq X Ten in HudsonAlpha's CLIA-certified laboratory, and will cost $6,000 for patients who pay out of pocket, which is comparable to diagnostic exome prices, Jacob said. The price billed to insurance companies will be higher. Turnaround time will be listed as 90 days, but Jacob anticipates that actual turnaround times will be much faster.

The clinic will be able to see around 300 patients in the first year, although the diagnostic sequencing will also be offered to patients outside the clinic, and Jacob predicted that closer to 3,000 patients would receive diagnostic sequencing in the first year. After the first year, he expects capacity to grow.

The clinic will focus on patients with rare or undiagnosed diseases, including those who have been misdiagnosed, Jacob said. In Alabama alone, that represents around 35,000 patients, Jacob said. The center will work closely with the University of Alabama, Birmingham and Children's of Alabama hospital, and expects that initially most patients will be from the northern Alabama area.

Patients and families will have autonomy in deciding what results to receive that are not related to the patient's primary diagnosis. Jacob said the center is differentiating between secondary and incidental findings. For instance, the center will analyze certain medically relevant genes if the family is interested in knowing those results. But there will also be results in genes that the laboratory might not be able to avoid analyzing. Families will have to also decide whether they want those results.

"We give them a whole range of options," Jacob said.

In addition, the clinic will provide options for reanalysis in cases where the sequencing does not initially make a diagnosis. The reanalysis will be driven by the physician or family, not done automatically, Jacob said, although the clinic will recommend that the physician or family request it about one year later.

Another issue that is still being worked out is how long to store the sequence data, Jacob said. "There's not any good guidelines on that," Jacob said, although "at this point in time, we haven't thrown any out."

Eventually, it may be cheaper to re-sequence rather than to save genomic data, Jacob said, but for now, "we're keeping it as long as possible."