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in cancer, where many new drugs have been designed to block specific molecular mechanisms, and those mechanisms may be found in more than one tumor type. Scientists are also characterizing the array of mutations that can contribute to complex diseases like autism and cancer.
Doctors are starting to order tests such as Cambridge, MA-based Foundation Medicine’s assay of more than 236 genes linked to cancer. Physicians can also get clinical exome tests for diseases such as autism from Ambry Genetics of Aliso Viejo, CA.
At Ambry or Silicon Valley Biosystems (SV Bio) of Foster City, CA, doctors can order exome sequencing to ferret out possible genetic causes of unexplained symptoms, such as seizures or loss of verbal ability, that doctors haven’t been able to diagnose. Gene sequencing is sought for patients suffering from such “mystery diseases” that have not been identified through extensive testing by other means.
Health insurers are already covering an array of tests to assess specific genes as a guide to treatment. For example, one assay tests breast tumor tissue for an abnormal number of copies of the Her2 gene, which codes for a protein that promotes cell growth and division. This genetic mutation can also be detected by testing for abnormally high levels of the Her2 protein itself. A positive result on either of these tests means a woman is more likely to benefit from Roche’s drug trastuzumab (Herceptin). U.S. health plans spent an estimated total of $5 billion on such genetic and molecular diagnostic testing in 2010, according to a study by UnitedHealth Group. By 2021, such expenditures could rise into the range of $15 billion to $25 billion, the study authors predicted.
That said, reimbursement can be difficult to secure even for a limited test checking a single gene, if payers don’t see proof of the test’s value. Insurers ask whether a test is essential to help doctors choose a treatment; whether the test improves patient outcomes; and even whether it delivers economic benefits such as lowering the overall cost of healthcare.
That makes the hurdles even higher for sequencing hundreds or thousands of genes across an individual’s genome, says Edward Abrahams, president of the Personalized Medicine Coalition.
“The insurance industry is waiting to see demonstration of clinical utility,” Abrahams says. “This is where the tension is.”
For the time being, many patients are paying out of pocket for broader genetic screening tests. But companies such as Ambry and Foundation Medicine are helping doctors make a stab at getting the cost reimbursed by billing health plans directly. Sequencing technology maker Illumina now also offers its own test for patients, called TruSight Individual Genome Sequencing, but leaves it up to patients and their doctors to seek repayment from health plans. Whether insurers pay or not, they’re now evaluating claims that wider genome scans are a medical necessity in some cases.
In the meantime, researchers and companies can draw on financial resources other than reimbursement to fund DNA scans for individual patients. Mark Rubin at New York’s new Institute for Precision Medicine says he’ll seek charitable contributions to help pay for the tests. The institute will also help run clinical trials for companies including Cambridge, MA-based Millennium, a unit of Japan-based Takeda. Foundation Medicine also has revenue-producing collaborations with drug companies.
Together, all these entities are amplifying knowledge about the genetic causes of illness by building up biobanks of individual gene sequences and tracking patient outcomes when treatment is guided by genetic clues. Rubin says the cumulative proof will eventually lead to reimbursement for genome sequencing.
One factor that may speed up the reimbursement timeline is the plummeting cost of genome sequencing, says Dietrich Stephan, the CEO of SV Bio. The cost of sequencing a whole human genome is now close … Next Page »
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