Scientist vs. Patient: A Dialogue on Tumor Sequencing
Molecular Profiling and Tumor Sequencing
Frequently, when a friend or family member knows someone diagnosed with breast cancer, I become an early point of contact– a resource to help the newly diagnosed patient, and I’m always glad to be able to help. Frequently, I can draw on my own experiences, but as time passes, I’m finding that there are so many more options available to patients now than there were only four years ago. Going through my morning routine today, I began to wonder how I would respond if someone asked me whether I thought they should have their tumor sequenced. It can be a pretty big expense, even when “covered” by insurance. (I hate how saying that that something is covered somehow implies it’s free, which can be very far from the truth!) I decided that it would depend. If they had metastatic disease that had progressed on several different therapies, then yes, I think looking at anything and everything might be worth it.
But tumor sequencing is still in the early stages of its development. After some consideration, I thought the scientist in me might not suggest this level of testing except in pretty rare cases. But then a funny thing happened. The patient in me thought of my friends in support group– young women with early stage breast cancer and little kids. What if one of them found out that she had a recurrence? Would I encourage her to sequence her tumor right away? Hmmm. This theoretical exercise just got a little harder. I’d want her to get the best treatment as quickly as possible to make sure that she was around to see her kiddos grow up. But I would also worry about giving her false hope and costing her a lot of money. The scientist in me wouldn’t want to make any claim without data. So for her, I think I’d go with a heavily qualified “maybe,” as long as she understood that her results might not change her treatment course or her overall outcome. Not exactly happy with that answer, I continued making my bed when I stumbled upon the real question. I asked myself out loud, because I was alone, and that’s how I roll.
What if I had a recurrence? Would I want to sequence my own tumor?
In times like these, it’s nice to have Scientist Jamie around, but she pretty much takes the backseat to Mom Jamie and Patient Jamie. Mom Jamie wants to be around to see her kids grow up, graduate from all the things, and have babies of their own. Mom Jamie wants shop for prom dresses and wedding dresses, take college tours and help with cross country moves. Patient Jamie hates the anxiety that comes along with cancer, and insisted on a bilateral mastectomy even though Scientist Jamie knew that it wouldn’t improve her survival at all. So if it were me, what would I do? Mom/Patient Jamie knew the answer almost before Scientist Jamie finished asking the question out loud. I’d want that sequence. I’d want to know every single solitary letter, on the off chance that it would give me one tiny clue at which drug would keep me around the longest. Scientist Jamie would know it was a long shot, it might be hard to find a trial even if the sequence found a drug-able mutation, and that targeting a mutation with a drug might not change the progression of the cancer at all. She would tell everyone else not to get their hopes up. But Scientist Jamie would also know that the only way to grow new science is to gather more data, so her sequence could be important, even if it didn’t help Patient Jamie. She would have to admit that Patient Jamie’s hopes of finding a drug that could put a hold on her cancer wasn’t an impossibility– the only way to come up with new treatments is to look for them and try them.
And so I returned to my original question. Who should sequence their tumor? Making decisions is always hard, more so when there is no clearly right or wrong decision. Scientist Jamie would want to be sure that her friends knew sending a tumor off for sequencing isn’t a home run, but Patient Jamie knows that being an empowered, engaged patient is important, and having that sequence in hand is a great way to start. More and more patients are finding hope in the form of new treatments that are given to them as a direct result of information found in their DNA. I think we will see tumor sequencing become an even more useful tool to many patients– not just those who have exhausted all traditional treatment options– as they strive to live longer and better lives after a cancer diagnosis.
Jamie Holloway is a both a scientist and a survivor, earning her PhD in tumor biology from Georgetown University a few years before her own breast cancer diagnosis. Now living with no evidence of disease after treatment for early stage triple negative breast cancer, she bridges the gap between scientists and researchers as a Precision Medicine Advocate for Cure Forward and as the Patient Advocate for the Metastatic Breast Cancer Project at the Broad Institute. She works with researchers as part of the Georgetown Breast Cancer Advocates and writes about her personal experience with cancer on her blog, Run Lipstick Chemo, and as a contributor to the Cure Magazine community.