By Julia Karow
This story was originally published June 14.
Illumina has lowered the price for its Individual Genome Sequencing Service to between $7,500 and $10,000, depending on the application, as it sees growing demand for the service in the clinical area.
The company said that demand for IGS from individuals with health issues has been higher than expected, and that it has secured insurance reimbursement for two cases so far, earlier than anticipated.
Under the new pricing structure, any individual can have his or her genome sequenced through the service for $9,500, down from the previous price of $19,500 for a single genome or $14,500 per genome if five or more samples were submitted together.
Illumina also continues to offer the service at a subsidized clinical rate, now $7,500 instead of $9,500. Cancer patients, who need to have both their tumor and normal control tissue sequenced, will pay $10,000, or $5,000 per sample.
At the Consumer Genetics conference in Boston last week, Illumina CEO Jay Flatley said that the company has been surprised by the demand it has seen for the service from individuals with health issues, like an inherited genetic disorder or cancer, rather than from healthy consumers, the original target of the service.
A graphic representation of the genomes sequenced through IGS in 2011 showed that approximately 20 were sequenced for clinical reasons and only three originated from healthy individuals.
Flatley said that the company had originally thought that "healthy and proactive" customers would have their genomes sequenced even if there was no immediate clinical utility, but "in fact, the biggest part of the market is the one where you are applying these datasets clinically."
He said that the price of the service was "probably the single biggest factor" that has prevented more widespread adoption, followed by the "perceived limitations of utility," especially compared to inexpensive genotyping services.
Analysis and interpretation of whole-genome data is "a huge opportunity," he said, both for startup companies and academic groups. There is also a strong need for "clinical-grade" databases that link genome variants to disease phenotypes. Finally, the results need to be readily accessible to physicians, ideally as part of an electronic health record, and physicians need to be educated about how to use them.
As an example of how the service has helped to diagnose an inherited genetic disease, he pointed out the case of a 16-month-old child treated at the Medical College of Wisconsin who had a seizure disorder with progressive neurological dysfunction. Sequencing helped to determine that this child would probably not benefit from treatment with epilepsy drugs.
Even results like these that do not point to new treatment options are useful, Flatley said. "Simply having closure on diagnosis is incredibly important to the family, even if the disease is not curable."
So far, the Medical College of Wisconsin has obtained six genome sequences through IGS, for conditions that include primary immune deficiency, seizure disorder, and suspected mitochondrial disease. While two of these cases have been reported, four are currently undergoing analysis, he said.
Overall, Illumina has secured reimbursement for two cases that used genome sequencing to diagnose disease, one in a child and one in an adult, and has received payment for one of these. "We would not have predicted this to happen as early as it has," Flatley said.
IGS has also been used to analyze tumor/normal pairs of cancer patients, sequencing being "the ideal technology" to tackle the frequent mutations and heterogeneity of cancer samples, according to Flatley.
In terms of the data interpretation, there is a "rapid market opportunity" for third parties working with Illumina as well as its competitors "to use sequencing technology to build up cancer diagnostics portfolios," he added.
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To illustrate the successful use of the service in cancer diagnostics, he mentioned the case of a patient with acute myelocytic leukemia. This patient had tested negative for a translocation gene fusion that is characteristic of APL, a subtype of AML, but genome sequencing found a 77-kilobase insertion that resulted in the fusion of the same genes. Based on this, the patient received chemotherapy treatment and went into remission, a treatment that would not have been indicated without the gene fusion.
Sequencing for IGS, launched by Illumina in 2009, takes place in the company's CLIA-certified laboratory, which Flatley said recently also received CAP certification. The service has to be prescribed by a doctor, and the company maintains a network, called PGNet, of currently 18 physicians and 14 genetic counselors, who are willing to do so.
Illumina is currently working with the US Food and Drug Administration to help define standards for clinical whole-genome sequencing. "We've talked to the FDA about how we do this, and they like it," Flatley said.
Customers receive their results on a hard disk right now but will "soon" obtain them on an iPad. Illumina has developed a software application for the iPad, called MiGenome, that Flatley demonstrated during his talk. He did not say when this program will become available to customers.
MiGenome will allow users to view their data, which is stored on the iPad, in a genome browser and to search for associations between their variants and about 75 diseases and drugs, though Illumina intends to add "hundreds" more areas in the future.
The company is currently not including odds ratios for disease risks, however. "We're just reporting the data; we are not making any medical interpretation of these data as yet for regulatory reasons," he said.
In the future, physicians could query an individual's whole-genome data for those results they are interested in — similar to ordering diagnostic tests — and create reports for them, but that might still take some time and education about the utility of whole-genome sequencing.
Flatley said that when he wanted to have his own genome sequenced a few years ago as part of testing IGS, he asked his general practitioner to write a prescription. His doctor's response, Flatley recounted, was, "You've got to be kidding me," so he had to get a prescription from a medical geneticist instead.
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