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Illumina Expands 'Understand Your Genome' Program, Number of Conditions Analyzed for Clinical Genome


In an effort to raise awareness for its clinical whole-genome sequencing test, Illumina plans to expand its "Understand Your Genome" symposium program next year.

The company has more than quadrupled the number of genes it analyzes for the clinical interpretation of the test results since last year and is working on ways to update the interpretation for past customers of the test.

In 2014, Illumina plans to put on 12 UYG events, educational seminars for which attendees have their own genome or that of another person sequenced and analyzed for certain disease conditions and traits.

Of those, nine symposia will be hosted by institutes or companies other than Illumina, starting with one at the Garvan Institute of Medical Research in Sydney in April.

Illumina first started offering personal genome sequencing services in 2009, initially at a price of $48,000 and without a clinical interpretation of the variant data (IS 6/16/2009).

Two years later, the company dropped the price to $9,500 for a healthy individual's genome, and still did not offer any medical interpretation (CSN 6/15/2011).

Last year, Illumina added a clinical assessment of 344 genes associated with monogenic diseases – including certain adult-onset conditions – as an option to its test, which has to be prescribed by a doctor and is conducted in the company's CLIA-certified and CAP-accredited laboratory in San Diego (CSN 11/28/2012).

Since then, the number of genes interpreted for the test has grown to 1,600, covering 1,221 disease conditions and traits, such as carrier status.

These include the BRCA1 and 2 genes involved in hereditary breast and ovarian cancer – until recently a monopoly of Myriad Genetics – as well as other genes involved in cancer predisposition syndromes, such as Lynch syndrome; genes involved in hereditary Alzheimer's disease; and many rare disease genes, according to a list on the company's website.

At present, Illumina offers its clinical genome sequencing test in three flavors: a TruGenome Undiagnosed Disease Test, designed to help with the diagnosis of Mendelian diseases; a TruGenome Predisposition Screen, geared at healthy individuals, which covers the 1,600 genes; and TruGenome Technical Sequence Data, for doctors "able to analyze and interpret whole-genome sequencing data," which provides no interpretation.

Last year, the company held its first UYG event, in which more than 50 individuals with a professional interest in whole-genome sequencing participated (CSN 6/27/2012).

For that, and three subsequent symposia this year, including one in the UK and one in San Diego earlier this week, the company sequenced participants' genomes at a subsidized rate of $5,000, which also covered the cost of the conference.

So far, Illumina's educational seminars have focused on early adopters of clinical whole-genome sequencing. Participants have included Eric Topol, director of the Scripps Translational Science Institute and chief academic officer of Scripps Health; Howard Jacob, director of the Human and Molecular Genetics Center at the Medical College of Wisconsin; and Heidi Rehm, director of the Laboratory for Molecular Medicine at Partners Healthcare Center for Personalized Genetic Medicine.

But one of the goals of next year's UYG events is to increase the number of "genome-savvy" physicians, according to Matt Posard, senior vice president and general manager of Illumina's Translational and Consumer Genomics business. To that end, several events will cater to the interests of doctors, focusing more on questions like informed consent or clinical content.

Going forward, Illumina will focus on expanding the number of interpreted genes even further, Posard told Clinical Sequencing News, and on creating an infrastructure to re-interpret genome data from past customers of the test, enabling the company to look at variants of unknown significance in light of new findings, for example.

In addition, Illumina plans to offer personal genome sequencing to its own employees, though it has not finalized a formal program yet.