Family planning

There was a discussion recently in one of the online support groups where I spend lots of time these days about family planning after discovery of a germline mutation (a/k/a hereditary predisposition for cancer) that got me thinking. As many of you are aware, I discovered in 2017 that I carry the ATM germline/genetic mutation, which has a moderate risk of several different types of cancer, including breast, perhaps ovarian, pancreatic, perhaps colorectal, and for men, prostate cancer. Given that I found out about this germline mutation after my de novo Stage IV Metastatic Breast Cancer (MBC) diagnosis, it was a little baffling that the genetic mutation was classified as only a “moderate risk” of breast cancer, but research is ongoing regarding this and many other genetic mutations that change a person’s risk for cancer and there are now some known variations of the ATM mutation that do carry more than a moderate risk. My diagnosis and discovery of this genetic mutation has affected my immediate and extended family in really serious ways.

One of the options available for family planning once a genetic risk for cancer has been discovered is to work with a fertility specialist to create embryos, do genetic testing on the embryos, and only implant those embryos that don’t carry a genetic mutation. The first time I heard about this selection possibility was when my husband and I were considering a second child and met up with our fertility team to discuss next steps — we were presented with the possibility of selecting the gender of our next child. While we did not pursue this type of planning, when I heard from several people who carry the BRCA mutation (BRCA often carries an extremely high risk of breast cancer) that they did preselect the embryos based on which one didn’t have the mutation, it simply made sense to me. Why bring a child into the world who has such a high risk of cancer if we can avoid that?

But then someone posted about how that person can’t embrace that type of thinking because if their parents had made that decision, this person wouldn’t have been born.

And I stopped in my tracks.

If my parents had had this option, knew what they were selecting for or against, I wouldn’t have been born either.

As a parent, I would do quite literally anything for my children and the knowledge that my boys each have a 50/50 chance of inheriting a genetic mutation from me that will increase their risk of developing cancer often keeps me up at night. As someone who is living with the knowledge that MBC will end my life sooner than what might have happened “naturally,” I also chafe at the restrictions on genetic testing in children knowing that I won’t likely be around to talk with them about ATM if they have inherited it from me. I watch them go about their days or sleeping and just marvel at how amazing they are. But would I have chosen not to bring either or both of them into the world based on genetic mutations?

The answer for me is a resounding no; I wouldn’t change anything that led us to having our boys, genetic mutations or not. If I’d had the ability to avoid passing along the genetic mutation that I carry, I might have chosen to exercise whatever control we’d had available, but we didn’t know about it when we were going through family planning. A third child was prevented by my MBC diagnosis and the hysterectomy that was deemed necessary for my treatment and longevity. I don’t begrudge that choice to whomever has the ability to avoid passing along a genetic mutation or the choice not to. These are all such individual choices fraught with worry and pros and cons on every side.

And I know that nothing about this is simple or easy.

Here’s the bottom line for me in most of these difficult discussions with so many people on all sides with strong opinions — we’re all individuals and responsible for making the best decisions we can with the information we have. What works or is best for one person isn’t going to have the same importance for another. It is my opinion that making choices about fertility and family planning is not something binary, there is no overall right or wrong, just a lot of shades of gray. The best thing we can each do is gather as much information as possible so that we’re making informed decisions as much as possible. And then live with those choices, for better or worse.

I’ve included a link below to an interview I conduced with Dr. Sue Friedman of FORCE at the San Antonio Breast Cancer Symposium last year with The Patient Story all about hereditary cancer and some of the why behind her creating FORCE and engaging in the issues that arise with hereditary cancer. It’s not simple, it’s not easy, and its so important to understand and manage each of our individual risks.

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