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In Educational Symposium, Illumina to Sequence, Interpret Genomes of 50 Participants for $5K Each

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This story was originally published June 25.

As part of a company-sponsored symposium this fall to "explore best practices for deploying next-generation sequencing in a clinical setting," Illumina plans to sequence and analyze the genomes of around 50 participants for $5,000 each, Clinical Sequencing News has learned.

According to Matt Posard, senior vice president and general manager of Illumina's translational and consumer genomics business, the event is part of a "multi-step process to engage experts in the field around whole-genome sequencing, and to support the conversation."

The “Understand your Genome” symposium will take place Oct. 22-23 at Illumina’s headquarters in San Diego.

The company sent out invitations to the event over the last few months, targeting individuals with a professional interest in whole-genome sequencing, including medical geneticists, pathologists, academics, and industry or business leaders, Posard told CSN this week. To provide potential participants with more information about the symposium, Illumina also hosted a webinar this month that included a Q&A session.

Registration closed June 14 and has exceeded capacity — initially 50 spots, a number that may increase slightly, Posard said. Everyone else is currently waitlisted, and Illumina plans to host additional symposia next year.

"There has been quite a bit of unanticipated enthusiasm around this from people who are speaking at the event or planning to attend the event," including postings on blogs and listservs, Posard said.

As part of their $5,000 registration fee, which does not include travel and lodging, participants will have their whole genome sequenced in Illumina's CLIA-certified and CAP-accredited lab prior to the event. It is also possible to participate without having one's genome sequenced, but only as a companion to a full registrant, according to Illumina's website. The company prefers that participants submit their own sample, but as an alternative, they may submit a patient sample instead.

The general procedure is very similar to Illumina's Individual Genome Sequencing, or IGS, service in that it requires a prescription from a physician, who also receives the results to review them with the participant. However, participants pay less than they would through IGS, where a single human genome currently costs $9,500.

Participants will also have a one-on-one session with an Illumina geneticist prior to being sequenced, and they can choose to not receive certain medical information as part of the genome interpretation.

Doctors will receive the results and review them with the participants sometime before the event. "There will be no surprises for these participants when they come to the symposium," Posard said.

Results will include not only a list of variants but also a clinical interpretation of the data by Illumina geneticists. This is currently not part of IGS, which requires an interpretation of the data by a third party, but Illumina plans to start offering interpretation services for IGS before the symposium, Posard said.

"Our stated intent has always been that we want to fill in all of the pieces that the physicians require, so we are building a human resource, as well as an informatics team, to provide that clinical interpretation, and we are using that apparatus for the 'Understand your Genome' event," Posard said.

The interpretation will include "a specified subset of genes relating to Mendelian conditions, drug response, and complex disease risks," according to the website, which notes that "as with any clinical test, the patient and physician must discuss any medically significant results."

The first day of the symposium will feature presentations on clinical, laboratory, ethical, legal, and social issues around whole-genome sequencing by experts in the field. Speakers include Eric Topol from the Scripps Translational Science Institute, Matthew Ferber from the Mayo Clinic, Robert Green from Brigham and Women's Hospital and Harvard Medical School, Heidi Rehm from the Harvard Partners Center for Genetics and Genomics, Gregory Tsongalis from the Dartmouth Hitchcock Medical Center, Robert Best from the University of South Carolina School of Medicine, Kenneth Chahine from Ancestry.com, as well as Illumina's CEO Jay Flatley and chief scientist David Bentley.

On the second day, participants will receive their genome data on an iPad and learn how to analyze their results using the iPad MyGenome application that Illumina launched in April.

The planned symposium stirred some controversy at the European Society of Human Genetics annual meeting in Nuremberg, Germany, this week. During a presentation in a session on the diagnostic use of next-generation sequencing, Gert Matthijs, head of the Laboratory for Molecular Diagnostics at the Center for Human Genetics in Leuven, Belgium, said he was upset because the invitation to Illumina's event apparently not only reached selected individuals but also patient organizations.

"To me, personally, [the event] tells that some people are really exploring the limits of business, and business models, to get us to genome sequencing," he said.

"We have to be very careful when we put next-generation sequencing direct to the consumer, or to patient testing, but it's a free world," he added later.

Posard said that Illumina welcomes questions about and criticism of the symposium. "This is another example of us being extremely responsible and transparent in how we're handling this novel application that everybody acknowledges is the wave of the future," he said. "We want to responsibly introduce that wave, and I believe we're doing so, through such things as the 'Understand your Genome' event, but not limited to this event."

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