Wednesday, February 27, 2013

Treatment-oriented medical benefits of personal genomics

This article discusses a few medical benefits of personal genomics in a treatment-oriented medical context (as opposed to a preventative-focused context). One patient sequenced her tumor's genome and was able to effectively fight her previously resistant cancer. (The tests revealed "abnormalities in genes not typically associated with breast cancer, including one that activates a cancer-associated protein called mTOR. The drugs [blocked] the growth-stimulating activity of that protein.") Such genomic sequencing is not regularly covered by insurance, which prompts questions about controlled access. Cancer patients often face lengthy trial-and-error periods with their treatment regimens... Assuming genomic sequencing will never be cheap, is there a point at which cancer patients with insurance should be able to get genomic sequencing performed to stave off ever-worsening diagnoses?

The parents of a different patient with an undiagnosed developmental disorder decided to undergo full exome sequencing along with their daughter with the hopes of identifying her condition. Such an identification would have positive benefits for the family including easier access to medical services or therapies. Are there any negative repercussions involved in this decision?

On a different note, one of the doctors in "Grey's Anatomy" (a popular modern soap opera medical drama) recently petitioned to genome sequence a patient's tumor... While this storyline did not occur in the most scholarly of contexts, I do think that it shows how genomics is slipping into mainstream culture. (Here is a link to an article written by the show's medical researcher explaining genome sequencing for the masses.)

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