Do-It-Yourself Gene Testing Threatens Myriad’s Monopoly

by jeeg 12. October 2010 23:48

Myriad Genetics sells an expensive genetic test for breast cancer risk for $3000. University of Maryland gene scientist Steven Salzberg thinks people should be able to do it at home  for free.

He has created free software that analyzes the genome for 68 mutations in the BRCA1 and BRCA2 cancer genes, which raise the risk of breast and ovarian cancer. All you need is your raw genome data on, say, a thumb drive.  A MacBook Pro from Apple could do the test in about eight hours of processing time while you sleep. He has published his software results in the current issue of Genome Biology.

Myriad now has a monopoly on the medical tests for these genes that drastically raise the risk of breast and ovarian cancers. If his approach catches in a few years from now when gene scanning becomes cheap and easily available, it could  herald a new era of  do-it-yourself genetic testing. This could pose a big threat down-the-road to companies like Myriad Genetics that sell expensive patented tests.

Myriad’s  controversial BRCA1 and BRCA2 gene patents are already being challenged in federal court.  It lost in the first round but is appealing. Many scientists, including Salzberg, think the type of broad gene patents given to Myriad were a big mistake and are akin to patenting a product of nature.

Salzberg’s do-it-yourself concept would have seemed preposterous a few year ago. But now the cost of scanning an entire person’s genome has plummeted to $20,000 or less.  Costs continue to decrease, and the day when deciphering all 22,000 genes costs less than Myriad’s $3000 test that looks at two genes is not far off.

“In the not-too-distant future, we’ll all have our genomes on a thumb drive,” says Salzberg.  Lots of people will get their genomes scanned for  $1000. Instead of sending the data to an expensive lab testing company, you may plug the data into your laptop and use free software and analyze it yourself, or go to your local doctor and have him do the same.

When new genes are discovered, you can go back and look in your genome to see whether you have them. It will be a little like Napster for gene testing. Anyone who is sophisticated enough to run some software will be able to get around controversial gene patents.

But that vision can never happen, Salzberg says, if the genome is tied up among numerous patent holders, each demanding expensive licensing fees. If a person’s takes their genome to a doctor, but the doctor cannot analyze it without paying 1000s of onerous licensing fees to gene patent holders, “it will be harmful to public health.”

“The most valuable thing we will get from the human genome is individualized medicine,” says Salzberg. “I don’t want to see that hijacked by patents” that prevent people from reading their own genomes.

Salzberg’s software poses a long-term threat to other companies seeking to sell proprietary gene tests, such as Celera. “The software is flexible and can be easily adapted to search for mutations in other genes,” the paper states.

Such an do-it-yourself approach is sure to inflame doctors and genetic counselors, who won’t like being potentially cut out of the loop. Certainly, complicated tests result have the potential to confuse and mislead.

Many medical officials would prefer to take a paternalistic approach and require patients to consult a doctor or counselor before genetic testing. (That would certainly be good for business.) But maybe gene tests should be treated a little like more like financial planning for retirement: It is a complicated matter and it may make sense want to get paid advice from an expert…but you don’t have to if you don’t want to.

“This is not necessarily a direct and immediate challenge [to Myriad] as long as there is any uncertainty about accuracy of the sequencing data or the interpretation,” says Harvard University genome visionary George Church. “But it does point out the likelihood of rapidly growing confidence…in next-generation sequencing combined with publicly-available curated resources for personal genome interpretation.”

Church, who started the Personal Genome Project and is founder of the gene-scanning company Knome, envisions a Wikipedia-style model for interpreting the genome, where experts (using their real namea) collaborate online to help people interpret their genome results. This type of crowd-sourced gene analysis could be highly accurate, perhaps more so than a single company gene test where you have no way of knowing if the company has made a mistake. “Some level of consensus, peer review and critique could result in higher confidence than isolated commercial operation,” says Church.

It remains to be seen whether the plummeting costs of gene sequencing will render expensive single-gene tests obsolete. Numerous companies inlcuding Illumina and Life Technologies sell gene decoding machines that are getting faster and cheaper all the time.

The real value may be in interpreting the complex data. Most people may be willing to pay a few thousand to get a premium test that gives them peace of mind that they have a correct interpretation of their genetic data, especially in life-or-death matters such as deciding on cancer treatments. If the insurance company is paying, they won’t care how much it costs.

By Robert Langreth, Forbes

 

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