Things to Consider in Genetic Testing

A two-time cancer survivor learns more about pancreatic cysts and discusses the value and cautions of genetic testing.

Intraductal Papillary Mucosal Neoplasms in my pancreas are the latest "lovely" thing that cancer has brought into my life. Well, it is not my first time around - I have already had breast cancer and melanoma. My particular IPMNs may not be or ever become cancer, and yet they subject me to play the "wait and watch game" with one more cancer-type thing.

If you are a cancer survivor, you know how that game works - try to move forward with life while not pre-worrying too much. How were my IPMNs found? I had a screening MRI because of my PALB2 genetic cancer mutation. Sometimes IPMNs are found by accident when having an MRI for an unrelated reason. Gotta love technology!

The way one doctor worded it, I was fortunate to have the PALB2 genetic mutation that prompted the MRI that caught these three IPMNs so early and will result in continued monitoring. Cancer survivors all learn that cancers caught early often have better outcomes than cancers that have already grown and spread. Pancreatic cancer has a poor survival rate because it is often caught too late. There is a moral to that story that I want to shout from the rooftops: Please, please see a geneticist and have genetic testing done!

Still, there is a potential dark side to genetic testing. It sounds like if a person has a genetic finding and wants to have children, they may be able to screen out embryos that get the mutation before implanting them. Hm. Hey wait a minute: I would have been one of those screened-out embryos if the technology had existed back in that day and my parents had chosen that route. So, yes, genetic testing is a choice, but meeting with a genetic counselor before the testing is decided upon is also very important.

There are many questions to consider before even getting testing done. To test or not to test? How much do you want to know? What happens once that knowledge is out there? A person can't be discriminated against for health care due to genetic test results, but life or disability insurance coverage, among others, may be a different story. Also, if you choose genetic testing, how often do you go back and get re-tested? Exciting advances are happening rapidly in this field. When I first got tested nine years ago, they only tested a couple of breast cancer genetic mutations. My latest genetic test looked for nineteen mutations - and found my PALB2!

Of course in my case, I Googled IPMNs and learned lots of frightening stuff before I met with the pancreas specialist. For IPMNs, location and size matter, and I am fortunate that mine are very small and not in worrisome locations. They are also too small for fine needle aspiration or surgery. I will have another MRI in about a year to watch for changes. This means that if they do start to appear cancerous, I may have surgical options to consider which might, in my case, provide a better prognosis than usual for pancreatic cancer.

Genetic testing leaves me optimistic, grateful, and yes, cautious. Please be careful out there, make thoughtful choices, and be sure your sources of information are reliable.