What is Genetic Tumor Sequencing?

A fellow DSRCT caregiver brought up the option of an expensive tumor gene sequencing test by Foundation Medicine, Inc on the DSRCT Facebook Group and I thought I’d do a little research on it.

Between 1990-2003, the Human Genome Project was an international project sponsored by the United States attempting to identify the nearly 25,000 genes that make up the 46 chromosomes of human DNA. The DNA contained within each of your cells carries the instructions needed to build and maintain the many diferent types of cells that make you, you. Researchers call this complete set of DNA instructions a “genome.” (From Guide to Your Genome, National Human Genome Research Institute)

Cancer is the result of mutations or alterations to DNA that result in abnormal or unregulated cell growth. Cancer cells have genetic changes that affect the way the cells grow and replicate, how the immune system regulates them, and other cell behavior. Determining which genes are active or mutated in a specific cancer can help a doctor determine which drug therapy is most likely to be effective based on existing research. This type of “Custom Cancer Treatment” is expected to be the future of cancer therapy.

Foundation Medicine offers a test kit called FoundationOne™ that allows doctors to send a solid tumor sample for genetic sequencing which identifies the molecular characteristics of the tumor and possible genetic mutations present in that specific tumor. This would in theory allow the doctor to select drugs for treatment to target mutations present in the patients tumor, “customizing” the treatment to the patient’s cancer. In Theory. However, FoundationOne™ genetic sequencing costs around $5000 to sequence 236 of genes known to be cancer related (which is significantly less than the $100,000 Steve Jobs spent having his own cancer and healthy cells sequenced in 2012 before his death). The company providing this “service” promises to attempt to get your private insurance to cover the test. If they cover it, you don’t have to pay the difference. If the insurance companies refuses to cover the test, to the best of my knowledge, you are responsible for the bill.

The MIT Technology Review published a fascinating article about this service and the use of tumor sequencing in cancer treatment. http://www.technologyreview.com/featuredstory/426987/foundation-medicine-personalizing-cancer-drugs/

KNOWLEDGE IS POWER, but the catch is that while the genetic information the test reveals can be useful to determine the characteristics of a tumor, there is no way to know if specific drugs will be effective without testing them. So a test like this can NARROW down the field of drugs to try, and maybe even find a target that gives an option not before considered. But it won’t tell you what will cure your cancer, or predict response to drugs or recurrence. And the problem is that the drugs we are using STILL DON’T WORK.  From the MIT article…

Worldwide spending on cancer drugs is expected to reach $80 billion this year—more than is spent on any other type of medicine. But “the average cancer drug only works about 25 percent of the time,” says Randy Scott, executive chairman of the molecular diagnostics company Genomic Health, which sells a test that examines 16 breast-cancer genes. “That means as a society we’re spending $60 billion on drugs that don’t work.”

The most frightening aspect of this type of test is that it’s a business venture. One that’s expected to be very lucrative in the BIG business that is cancer treatment. But will it save lives???

Always be cautious of the promise of expensive miracles, because the one thing that the commercial business of cancer thrives on is the desperation of its patients.

HOPE ALWAYS,
Laura

Sources:

http://www.sciencemag.org/site/special/cancergenomics/

http://articles.latimes.com/2013/mar/28/science/la-sci-sn-cancer-genome-20130328

http://www.ornl.gov/sci/techresources/Human_Genome/home.shtml

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