Jared's Genetic Testing Journey: Did I Inherit Cancer? (Part 3)
My sister asks the big question: Why?
This is Part III of this series. See Part I and Part II.
Government agencies and health practitioners consider five years the milestone for beating cancer. You’re a survivor when you go into remission, but stay clean for 60 months and your likelihood of redeveloping that cancer is unlikely.
My maternal aunt has survived breast cancer, as has my mother-in-law. My maternal grandmother did. My mother and her father did not survive pancreatic cancer. That’s not a surprise.
Pancreatic cancer is the motherfucker of all motherfuckers, a particularly cruel form of cancer that wastes you away from your core and is virtually undetectable until it spreads. The cancer survivorship rate is 12%, as most cases aren’t detected until the cancer metastasizes, or spread to other parts of the body.
Catch it at stage zero1 and you will likely come out of things okay. The survivorship rates drop precipitously after that.
So, as my sister asked me, “Why?”
“Why do you want to know? If they don’t catch it at the right time, you’re still going to die.”
So, Jared…why?
This process is called genetic counseling; testing is one step in the process.
When I was younger and more callous, I didn’t quite understand why people needed counseling for a test. You get the test, you find out the results and you make the decisions from there. Bing, bang, boom. Why do you need counseling?
And then you go to the oncology office where the testing is done. Ever been to an oncological practice? It’s not what I would call uplifting. There I was, a (relatively) healthy 47-year-old man sitting a room with people that fit into one of two categories — people living with cancer or the caregivers of someone living with cancer. I was the exception but nobody knew it.
Oh, don’t worry about me. I’m fine. Just here for a genetic test. I don’t have cancer.
Your name gets called, you get up, and eyes in the room follow you with the look of, “He’s so young.”
(An aside: While we seem to be going societally backwards in nearly every other regard, I don’t think people with cancer should hide or feel like they have to hide. It takes strength and courage to simply leave the house and enter the public eye, regardless of a diagnosis. Soapbox complete.)
Driving home after the appointment left me alone in the car to think about what I was doing. I consented to a test that will tell me whether:
I have an increased risk of developing the same disease that killed my mother and her father
I have an increased risk of any type of cancer
There is a likelihood that I have passed something to my kids
It rattled around in my head for the first few minutes of the ride. But, it also occurred to me that this was an opportunity for knowledge and empowerment. Yes, it’s possible the report would have some bad news in it — I would have been more surprised if it didn’t — but it also offered a pathway for monitoring and early detection, and access to a comprehensive cancer care center, if I ever needed it.
Mayo Clinic researchers found that 13.5% — or about 1 in 8 — of cancer patients inherited a genetic mutation. If I fell into that class, doors would open for enhanced surveillance and monitoring, clinical trials2, and other interventions.
So why do it? Because I could. Because I would rather know than one day be surprised with the news of a metastatic tumor that I did not know I was at an increased risk of developing. Knowledge is power. Information is powerful.
Another aside.
Your brain does some weird shit to you. My mother died during the fall of my junior year (September 1997). About a year later, around Thanksgiving of my senior year, I started having this weird abdominal pain, especially after I ate a lot of food3. If I inhaled, it felt like something was catching, like there was suddenly not enough room in my mid-section to accommodate whatever I had just eaten and breath at the same time.
I immediately convinced myself that I had pancreatic cancer. I went to my pediatrician, who couldn’t tell me anything, but she sent me to a gastroenterologist, who sent me out for a CT scan. I had to drink barium4 and lie flat on a table, which tilted at different angles to get the necessary imaging of what turned out to be a hiatal hernia caused by a tear in my diaphragm that allowed my stomach to expand into places it shouldn’t. Thus, the catching sensation.
“Lose some weight and lay off the beer,” was the answer from the gastroenterologist.
I saw a nutritionist and switched from beer to vodka and cranberry juice.
But, yeah, the brain does some crazy shit to you, like letting you wander to the worst possible result when there was something completely logical standing right in front of you.
There are some risks to going through all of this, beyond the potential of learning that you have a higher risk of developing a life-altering disease.
Cost is a big barrier. Insurance companies will likely demand a justification for testing and not all of them will simply take a doctor’s word for it. We could spend the next couple of thousand words on cases of insurance denials for essential treatment, but my guess is that the vast majority of you have fought a health insurer at least once in their lifetime.
While GINA prevents insurers or employers from discriminating against you, when there’s a will, there’s a way. Civil rights law is supposed to stop employers from discriminating on the basis of race, gender, faith, etc., but it still happens. The federal government has an entire office devoted to these safeguards5. More recent court cases emerged during the Covid era, as companies collected vaccine and genetic status to prove employee leave requests.
There’s a potential for overtesting and overtreatment. A positive test for the BRCA genes would mean increased surveillance for me for cancer detection, increasing costs for the insurer. Angelina Jolie tested positive for a mutation of her BRCA-1 and she opted for a preventative mastectomy to eliminate the potential development of breast cancer. Insurance companies might use these costs as reasons to increase premiums for their customers and deny procedures. Jolie could afford to have a double mastectomy immediately based on a test that showed she might develop breast cancer one day. Just because you are a carrier doesn’t mean you will develop it. Plenty of people test positive for diseases and remain asymptomatic (see also Covid) and the same could be the case for having a gene mutation.
This could also present issues of fatigue and anxiety to the patient and their family, living in constant fear that this could be the blood test or the mammogram that brings bad news.
Then there is my sister’s concern — testing positive for a disease with no cure. Testing for markers of pancreatic cancer might earn you annual screenings, but what if the tumor develops halfway between your appointments? An aggressive growth could advance stages before detected. What if you carry a mutated copy of the APOE-4, the genetic variant linked to an increased risk of Alzheimer’s disease? What can you do if you carry two copies of it and your risk of developing Alzheimer’s by age 85 increases to as much as 60%? Alzheimer’s doesn’t have a cure and the treatments are only effective when caught at the early stages.
And we’re not even talking about the genetic testing of children, in vitro or after their birth. The legal and ethical boundaries vary by state, as they do by faith system.
There’s plenty of reason to go on living without the implication of death following you around anymore than it already does. I have a 14% lifetime chance of dying from cancer. I also have a 1% chance of dying in a car accident. Death is binary and maybe the surprise is worth not living with the looming cloud.
I was preparing for a bi-weekly cross-divisional conference call where I had to report out on issues in my region when the phone rang. HEMATOLOGY-ONCO appeared as the Caller ID and Kim was on the other side of the line.
My genetic panel came back negative; no mutations, genetic variants or carrying. No need for a follow-up. My results would be mailed to me. The practice would keep them on file, just in case I ever had reason to return.
And just like that, my genetic counseling journey was over. My odds of developing cancer are normal, for now, just as they are is for any other malady. UV rays from the could modify cells protecting me from skin cancer. Chemical exposure could do the same and increase my risk of other cancers. My property sits on top of rock layers, which could mean high levels of radon in my home and raise my risk of lung cancer.
But, I didn’t inherit anything, nor did I pass anything to my children.
Knowledge is power.
Information is powerful.
Dirt Nap is taking a break and will return again in a few weeks.
Dirt Nap is the Substack newsletter about death, grief and dying that is written and edited by Jared Paventi. It’s published every Friday morning. Dirt Nap is free and we simply ask that you subscribe and/or share with others.
We are always looking for contributors and story ideas. Drop us a line if you have interested in either space at jaredpaventi at gmail dot com.
I’m all over social media if you want to chat. Find me on Facebook and LinkedIn. I’m also on Bluesky, and doom scroll Instagram at @jaredpaventi.
If you or someone you know is in crisis, call or text 988 to reach the Suicide and Crisis Lifeline or chat live at 988lifeline.org. For additional mental health resources, visit our list.
It’s actually called in situ, but we’re talking about just a clump of cells that haven’t gone anywhere.
Assuming the National Institutes on Health still exists by the time this is published.
And look, I’ve been overweight since I can remember. Eating a lot of food has been my MO for, well, ever.
Actually had to do it twice. Barium is vile and I threw up the first container into the trash at the nurses’ station.
At least it does in name. Who knows what the purpose is these days?
What a remarkable series. Thank you. First-rate writing married to personal experience and excellent research and reporting. So when you look for funding for the video documentary version?
Ohmigosh! I was on pins and needles waiting for part 3, and I am so relieved that you don't carry the gene. My best wishes to you and your family, including Marlo.