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    « FDA Approves Trametinib for Metastatic Melanoma | Main | Myriad Broadens Its Genetic Testing for Hereditary Cancers »

    Angelina Jolie’s Mastectomy Puts Genomic Testing In the Spotlight

    Cancer genomics have featured prominently in the news this week:

    1. Angelina Jolie’s mastectomy has ignited a conversation about genomic risk testing. Jolie decided to undergo the double mastectomy procedure after testing positive for a BRCA mutation. For those who may wonder about BRCA testing for themselves or loved ones, Dr. Jennifer Ashton presents an excellent primer on when testing is appropriate and what options exist for those who test positive:
    2. A 53-year old London man made headlines for choosing to undergo prostatectomy, also because of a BRCA mutation. Commentary has focused on the similarity to the Jolie case, though it is important to note that his was not a purely preventative procedure – microscopic signs of malignancy were found in his prostate prior to removal. It is unlikely that either the mutation or the microscopic malignancies would have been enough reason to undego the procedure without the other:
    3. Finally, the UK is piloting the use of a panel of predictive biomarkers for cancer patients. The program, called “Mainstreaming Cancer Genetics”, will offer an Illumina panel of 97 genes known to influence cancer predisposition. The test is being piloted in a small subset of cancer patients, with plans to eventually extend testing to all cancer patients. Interestingly, there is no initial focus on offering the test to healthy individuals for predictive purposes:
    One major commonality in these stories is that the genomic testing involved is a predisposition test – that is to say, testing for genes carried in a person’s normal cells which may make cancer more likely to develop. Predisposition testing can be a useful tool in weighing health decisions for cancer prevention and for aggressiveness of treatment if cancer does develop. Still, for existing cases of cancer, the most relevant information for treatment is not to be found in the patient’s healthy cells (the focus of predisposition testing), but in the cancer cells themselves, revealing how they became cancerous, what is driving their proliferation, and what therapies can stop them. For nearly all of our patients, identifying actionable therapeutic targets has involved leveraging full-genomic data on a patient’s cancer cells as well as their normal cells.
    Nonetheless, we are glad to see growing awareness of the role of genomics in cancer, and are particularly glad to see the introduction of genomic analysis into the UK’s National Health System, as an important step in mainstreaming more comprehensive genomic analysis, both in the UK, and across the globe.