Genetic Testing?

I’ve written before about genetic and genomic testing and how that has affected me personally and affected my choices regarding care. You can read those articles if you’d like: ATM Mutation, Mutations Become Targets, Receptors, and Cancer Prevention versus Risk Reduction.

Let me start this particular discussion by saying that I believe all knowledge is useful and knowledge = power. When there is an effort to withhold or selectively inform any person by the medical community, I get twitchy. While I don’t look back and beat myself up for decisions I made in the past, the fact that I have carried a genetic mutation that affects my risk for three different types of cancer my entire life and didn’t know it until I was diagnosed with terminal cancer does affect me and influences my advocacy. There are quite a few times in my life that this information would have been helpful, when the medical community suggesting or requiring genetic testing would have helped me make good decisions. And yet, that didn’t happen.

Recently, as I have transitioned from Miami to Orlando, I’ve been engaging more with the Mayo Clinic in Jacksonville, Florida. I’ve had a second opinion oncologist there for several years and she is now going to become my “head/main” Medical Oncologist, with assistance from a local oncologist in Orlando. During this transition, I was asked to participate in a study they call “Tapestry,” which involves creating a database of genetic material and is known as a genetic screening in a population rather than for a specific health concern. As I’m sure is not a surprise, I was eager to sign up for this study, thinking it would be interesting and also because I’m nearly always up for contributing in some way to research.

So, I got my vial in the mail, filled it up with saliva as instructed and sent it off. For this study, Mayo uses a company called Helix to gather the test kits and process the samples. The process was rather tedious but wasn’t too onerous.

Imagine my surprise when I got back the results and the only genes that had been addressed for the risk of breast cancer were BRCA1&2. Knowing that we have the ATM germline mutation in my family and knowing that there are actually more than forty (40) genes associated with the risk of breast cancer, I was shocked. All of the literature provided to me, the patient, in order to consent made it sound like it was a “full” genetic screening, not just selected genes.

Here is my worry overall with these limited studies and what I’ve seen with other people I know — people will take these tests to learn more about their genetic risk and then think that they have absolutely nothing to worry about when the limited panel comes back with nothing. I can think of at least a half dozen people who have posted online about just this after utilizing 23&Me or Ancestry.com.

That’s a scary false sense of security in my mind.

Me being me, I wrote to the study representatives at Mayo, sharing my concerns, my own story, and how if I’d taken this test before my diagnosis, I would have still been ignorant of my actual risk for breast cancer. I suggested that the sign up information was misleading and that the Institutional Review Board (IRB) should be looking at this issue more carefully.

The response? “General screening or genetic testing is not recommended for the general population at this time. Currently, genetic testing is often reactive and recommended only when there is a personal or family history.“

In my family, there was and is an extensive history of cancers, over half are cancers that are hormonally driven. And for me, when my mom went through breast cancer treatment about seventeen (17) years ago, all they had to test was BRCA1&2. She was and is negative. I am also negative for BRCA germline/genetic mutations, but have acquired some BRCA somatic mutations along the way.

Bottom line, since my mom tested negative for BRCA1&2 and was never told to re-test after the panels were updated in 2013, none of my doctors were concerned about my propensity for breast cancer. Even the doctor who helped me get diagnosed in 2017 did it because she was just covering all the bases, not because she was actually concerned because my mom tested negative.

Yes, I understand that *only* about 12% of cancer is genetic.

Yes, I understand that knowing you have a risk might be anxiety-provoking.

Yes, I understand that a genetic propensity for cancer might affect life and health insurance costs and ability to get good policies.

Yes, I understand that many people don’t want to know.

But for those of us who want to know, who know that we should know, who need that knowledge to make decisions about things like fertility and breastfeeding and birth control, etc., the information should not be withheld. As I shared with the folks at Mayo, these types of things need to be spelled out much more clearly (and I was looking) and PATIENTS/PEOPLE need to be the ones to opt in or out. Any time anyone else decides what information or knowledge I’m allowed to have about my own body without informed consent, it just infuriates me.

How is it that the medical community feels entitled to withhold information from the general public? How is this ok in 2022?