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The Deluxe Car Wash of Genomic Testing


A quick scroll through the list of clinical trials made it clear I didn't know enough about my tumor and the mutations that made it unique.

While walking me through what was to come after I received my diagnosis of colon cancer, my colorectal surgeon mentioned genetic testing. Still in a haze from the whirlwind that follows after you're told you have cancer, I barely remember his nurse giving my mouth the swab or why the results of that test would matter to me. The reason it was a priority to my surgeon was because I had a cancer not typically found in young adults, and my type of cancer was linked to several hereditary cancer syndromes that increased my chances of being diagnosed at such a young age.

Despite a family history of colon cancer, my oncologist let me know that I did not have any of the known inherited genes while also giving me my basic tumor genomics, or biomarkers specific to colorectal cancer, that would dictate the type of treatment I would be responsive to.

"This is good!" he said, mentioning that my tumor was microsatellite stable and KRAS-wild type. "It means you have more treatment options down the line." I couldn't even fathom what "down the line" would look like, as I couldn't even look down the hall to the very first infusion that awaited me after our appointment.

It is very confusing for a new patient to decipher pathology reports and the many acronyms that come with cancer. My oncologist knew better than to spend time at that first appointment trying to help me understand why my tumor genomics aligned with the genetic test results and why it would matter from this point forward. This understanding would come in time as I set out to understand my disease better.

I had both genetic and genomic testing after my diagnosis, and what I didn't know at the time was that information was vitally important when determining my disease surveillance and treatment plans. Simply put, genetic testing looks at what is contained in all our cells and could indicate a higher risk for developing additional cancers down the line, and genomic testing looks at what is contained in our tumor cells and how responsive or not responsive we could be to standard treatments available to us. Here's a nifty video that can better illustrate it for those of us that don't have credentials after our name.

Though I knew my tumor basics from the original pathology, I knew more extensive genomic testing could reveal a mutation in my tumor that would make me a candidate for other drugs or additional clinical trials. If I wanted to improve my chances of successfully treating my disease, this was information I (and any oncologist supervising my care) would need to know.

When it came to genomic testing, it's like I got the basic car wash when I was diagnosed so I could see out the windshield and where I was going. Now I was getting the deluxe car wash so I could discover any scratches or door dings. The basic car wash will get you safely on the road and headed in the right direction, but the deluxe car wash will let you see even the most minor paint chip so the dealer can match the touch-up paint perfectly.

There is no better place to see the benefits of knowing your "deluxe car wash" tumor genomics than scrolling through a list of clinical trials. Research is now turning toward attacking not the tumor type, but mutations within the tumor. They refer to these as basket trials. To proceed into the world of clinical trials without knowing your tumor genomics is like going on a road trip with only half a map.

So who should consider more extensive genomic testing? As someone eyeball-deep in clinical trials and cancer advocacy, my gut reaction is anyone with metastatic disease — especially if you know clinical trials may be in your future. It will help you and your oncologist fine tune your treatment and trial options and may even open the door to some targeted therapies already available.

But it's not always that simple. Many insurance companies will not cover the cost of the testing for various reasons, but don't let a denial discourage you if you are interested in genomic testing. Genomic profiling companies like Foundation Medicine and Caris Life Sciences do offer financial assistance to patients who find themselves denied coverage for testing from their insurance provider, and as a patient you can appeal the denial. As patients, I know the last thing we want is to put our dukes up for yet another fight, but this is one I firmly believe can change the course of treatment for the better.

In the end I didn't have any rare mutations that would lead to any current treatments or trials. But as an oncologist friend added when I shared the news with him, the magic word to add to that is "yet." Research is evolving so quickly, and my mutations aren't new to the scene. There's a very good chance that something is in the pipeline that targets what I have, and it's just a matter of time before a trial opens.

Because I've opted to do genomic testing now, I know what makes my tumors unique, and as G.I. Joe once said, "Knowing is half the battle."

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