The Reimbursed Personal Genome—-Five Years Away?

2/19/13Follow @tanseyverse

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to the current price range of reimbursable diagnostic tests that search for just one gene, or a few specific genes.

“One can make the argument with a straight face that it’ll be cheaper for a lab to sequence the genome rather than sequencing a single gene,” Stephan says.

It’s possible that in the near future, diagnostic labs will scan the whole genome or the exome no matter what particular genes a doctor wants to look at for diagnostic purposes, he says. It may be more cost-efficient for labs to run a single type of test rather than maintaining the ability to perform dozens of different tests of various smaller selections of DNA, Stephan says.

In 2001, it cost about $100,000 to sequence a single human genome. Illumina now charges researchers $4,000 per genome, if they run 50 or more samples. And Illumina’s genome sequencing service for individual patients, which includes a detailed interpretation, cost $9,500 when the patient doesn’t qualify for a subsidy program.

The price for a more limited exome sequencing is in the hundreds of dollars, Stephan says. Health plans may begin to see value in broader genome scans rather than piecemeal genetic tests to answer specific questions, he says. With a genome scan, a fuller range of information on the patient’s DNA will be stored in case a new medical problem crops up.

“I have no doubt that genome testing will be driven into routine practice within a five-year time frame,” Stephan says.

One possible future scenario is that genome or exome scans will be cranked out by commercial diagnostic labs such as Quest and LabCorp, which will then turn over the sequences to firms like SV Bio to interpret the results, Stephan says. His Bay area company is already operating on this model. SV Bio offers exome sequencing with a full interpretation for about $5,800. But it will also evaluate sequences done by other labs. And it will take doctors’ requests for limited interpretations focused only on the genes that are relevant to a specific disease afflicting their patients.

Even if Stephan’s predictions about the genomic testing market bear out, the evolving field will still have room for specialized genetic testing. In cancer diagnosis, for example, investigators test the tumor tissue to see which mutations have arisen to cause the cells to grow uncontrollably.

Foundation Medicine, rather than running an exome scan or full genome sequencing of tumor cell DNA, zeroes in on 236 genes that are implicated in cancer, says Kevin Krenitsky, the company’s chief commercial officer. That narrower focus allows the company to probe more deeply into other genetic factors that influence those cancer genes, causing rearrangements or repetitions of certain DNA sequences, for example. The Foundation One test, launched in June, will be constantly updated as new genetic knowledge flows from research centers such as the Institute for Precision Medicine.

The test has been ordered by more than 700 oncologists, and has uncovered novel genetic links in cancer, Krenitsky says. The genetic scan revealed alterations in the Her2 gene in tumors other than breast cancer, he says. Health plans have covered the cost of some treatments suggested by the test. But getting the Foundation One test itself reimbursed is a further hurdle. Foundation Medicine is compiling patient case studies and other data to establish the clinical value of the test, and is already making presentations to health plans, Krenitsky says.

Abrahams of the Personalized Medicine Coalition says the cancer field may open the door to more routine reimbursement of broader genome screening. Sequencing of tumor tissue is becoming a common practice at certain academic medical centers, he says.

“I wouldn’t say it’s the standard of care, but it’s likely to become so in the next few years—in cancer,” Abrahams says.

Bernadette Tansey is a freelance journalist based in Berkeley, CA. Follow @tanseyverse

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  • Ed Berger

    Genetic screening technology is indeed advancing rapidly, and the cost of sequencing is dropping dramatically. But I don’t believe we are actually getting closer to anything like an empirical demonstration of the clinical value of whole genome sequencing. If anything, we are learning that the genetic underpinnings of cancer, and the consequent response to various therapeutic interventions, is more complex than we’d hoped. In many cases that takes us further away than ever from insurer reimbursement for genetic and proteomic tests. There is a tremendous amount of hard translational and clinical research that will need to be done to establish broad acceptance of the clinical utility of broad genetic testing, and getting to what is required within 5 years is vanishingly unlikely.. .

  • Tomasz Adamusiak

    23andMe demonstrates clinical utility of broad genetic testing today. Personal genomes is the inevitable next step. Five years? I give it three.