Cancer Genomics: What You Need to Know

Image courtesy of epigenetics.
Image courtesy of

I’ve mentioned here before that genomics is particularly effective in treating cancer. I’d like to further explore that topic. You may have read about the recently published research detailing the potential for a ‘universal’ blood test for cancer. Although these preliminary findings are very just that, a beginning, the science behind the process is genomics. Research in the human genome has uncovered many effective ways to help fight cancer, from personalized treatment therapies to diagnosis.

Cancer occurs when your own cells become abnormal and divide uncontrollably. This makes every case of cancer as unique as your own cells, and part of the reason why it’s such a challenge to treat. While environmental factors like smoking play a role in causing cancer, hereditary factors are well researched. Many areas of the genome that code for proteins responsible for the processes of cell death have been linked to many different kinds of cancer. There are also “specific changes” which are mutations in the DNA specific to one kind of cancer. Knowing these specific changes help guide treatment of cancer by telling the doctor how the cancer is likely to progress.

Pharmacogenetics plays a huge role in treating cancer. It’s the aspect of genomics that truly enables personalized care. By understanding the genetic causes of the patient’s cancer, we can determine an optimal treatment plan. For example, irinotecan is a common chemotherapy drug used to treat colorectal cancer. Some patients, however, have a genetic mutation in their normal DNA that causes a shortage of the enzyme responsible for metabolizing irinotecan. Without the body’s ability to break it down, irinotecan stays in the body and causes life-threatening side effects. Knowing about the mutation allows an oncologist to administer a lower dose, which is often just as effective as the standard dose, while being less toxic. (source)

The advancement of the the genomic science has and will continue to de-mystify cancer. A vast majority of cancer related mutations in the genome has been found on the exome, the region of the human genome that codes for proteins. New Amsterdam Genomics specializes in Whole Exome Sequencing (WES). Our analysis pipeline is powerful because we automatically take advantage of and verify new findings, aiding in research and discovery. As cancer-genomic research expands, our test will continue to be top of the line. With genomics, the face of cancer treatment has changed.


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