Jared's Genetic Testing Journey: Did I Inherit Cancer? (Part 2)
How DNA and cancer work, plus a friend makes me bleed.
Part I of this series is here.
Situational awareness is usually my strong suit, but I failed miserably when it came to remembering my setting.
The women checking me in at Hematology-Oncology Associates of CNY was wearing latex gloves. My driver’s license — which she had just disinfected with an alcohol wipe — spit out the back of the document scanner and landed on the flat surface of her desk.
As I reached over to pick it up and hand it to her, she scolded me abruptly, “Please don’t.”
I watched her struggle to leverage her fingernails and beneath the millimeter thick piece of plastic as she apologized for being so curt. She explained that it’s part of their protocol at the practice to ensure everything is as sanitized as possible.
Such is the life at a workplace full of immunocompromised people. After each new person checked in on a tablet at the welcome kiosk, someone came by give it an alcohol bath.
I took my welcome kit — skipping the tote bag and pocket calendar — and took my seat in one of the nicest medical waiting rooms I’ve ever seen. Comfortable chairs with arms and actual cushions were sectioned in rows and situated in circles, inviting families to sit together. It was warm and inviting, though the cold truth behind many of these people’s eyes was of a more serious nature.
My visit was different from the others taking their seats. I wasn’t there for an infusion or radiation, or diagnosis or follow-up, but a consultation for genetic testing to determine my cancer risk.
Do I need to give you The Talk1? Are we good with how babies are made2? Can we please skip ahead to cell development3?
Thank you.
Your DNA — individual to you, but informed by the two individuals responsible for creating you, don’t make me explain how that happens for the love of God — is imprinted on every cell in your body. These cells grow and multiply as the fetus develops in the womb, creating more copies of themselves and dispersing them throughout the body. It is the code that makes me different from my sister and each of my children. Chromosomes are the structures inside the cell’s nucleus that carry the DNA strand. Most babies when they are born have 23 pairs chromosomes that make up your genetic profile, for a total of 46.
Genes are sections of DNA that tell cells how to make proteins, which are the building blocks of life. You're born with two copies of most genes — one from each parent — so if one doesn't function properly, the other can compensate.
So, think of your PC4; your DNA is Windows. The chromosome is your body’s CPU. Your genes are all the helper files you never look at — in this case, proteins and cells that protect you from cancer — but make your body tick. In a healthy body, your cells reproduce constantly, replicating your DNA and those cancer shields throughout your body.
Cancer is largely genetic in nature as it alters those genetic protectors in one or many cells. And, when those altered cells reproduce, they can overwhelm the body and create a toxic mess that tries to kill you.
There are three typical ways this can happen:
Genetic mutations, or mistakes that happen randomly when the cells multiply during development. A benign example is when you see a child with red hair5; this is the result of changes to the MC1R gene on chromosome 16 that causes the body to produce large quantities of pheomelanin, causing one’s hair to turn red. It also explains how a child can be born with red hair but have it darken over time, like me. In some cases, genes can repair themselves and correct the mutation.
Some mistakes are more fatal. Trisomy 13, or Patau syndrome, is the result of a child being born with a third copy of chromosome 13 in each cell. Most children born with Patau syndrome will not make it through their first year; many die within the first few days of being born.
Not all trisomies are fatal — trisomy 21 is better known as Down syndrome. In this case, the moniker indicates the presence of a 47th chromosome.
With cancer, the proteins in your genetic code that protects you from developing it has become damaged. Having one copy of the gene means you are a carrier; it may not increase your risk but you could pass it to your children. Having the mutation in both sets is the red flag.Your DNA can be altered by the presence of environmental toxins, or carcinogens. For instance, UV rays from the sun can change damage the DNA of skin cells. When those damaged cells reproduce, it spreads the altered cells and can result in skin cancer.
Nicotine works differently. Ingesting it promotes cell reproduction — after all, it’s a stimulant — and it can change the DNA makeup of cells. When those cells reproduce, bad stuff can happen. And it’s not just to the user; people who inhale vast quantities of second-hand smoke can experience changes (asthma, skin maladies, etc.) and it can harm fetal development6 if you smoke while pregnant.Like generational wealth and poverty, you can inherit genes from your parents. It’s more than just eye and hair color. The genes you inherit also dictate your risk and susceptibility to developing diseases like cancer.
My wife and I bought our first house in 2007, but we really didn’t meet our neighbors until later that spring. The four of us represented the only young couples on our block, so we gravitated to one another pretty easily. As we got to know Jeff and Jen better, we included one another in our social and family gatherings, and summers largely meant cookouts on their deck where we met Jen’s sister Kim.7
So, it was both surprising and comforting me when I got the appointment confirmation from the oncology practice and saw Kim’s name on it as my provider. I was going to go through this process of genetic testing, but with someone I knew. Someone whose children have played with mine. Someone I’ve gotten boozy with. Rapport is important to comfort and this was a good thing.
Though Kim and I have known one another for nearly 20 years, she didn’t know that my mother died from pancreatic cancer when she was 528. She wouldn’t have known that my grandfather died from the same disease when I was four years old. Hell, I didn’t know until earlier this week that my father’s mother also died from pancreatic cancer back in the 1970s.
Hereditary cancers indicate a mutated gene in your DNA. There are more than 20,000 genes in your body and Ambry Genetics’ CancerNext-Expanded tests reads 76 of them. If my mother had a mutated gene, my chance of inheriting it would be 50/50; same for my sister. And, if I had it, each of my kids would have the same odds.
Thirteen genes on the panel indicate hereditary risk for pancreatic cancer, including the BRCA-1 and BRCA-2 genes. They’re probably the most famous genes of all, due to their relationship to breast cancer and some celebrity elevation.
BRCA genes are cancer suppressors; they generate proteins that repair altered DNA. They get their names — BReast CAncer 1 and 2 — because of their prevalence in breast cancer development. Women have a 1 in 8 chance of developing breast cancer on their own; 60% of females with a mutation to their BRCA gene develop it. Of that group, your chances of contralateral breast cancer — malignancies in the other breast — increases from 8% to 25-40%.
Carrying the BRCA-1 also increases your risk of ovarian cancer. About 40-60% of women with the gene mutation will develop this form of cancer by age 70. Only about 1% of women without this particular marker will develop ovarian cancer.
Men with the BRCA genes are affected, though on a lesser scale. Male breast cancer affects 0.1% of the population, but increases to about 1% for those with the BRCA-1 mutation and about 7% with BRCA-2.
The BRCAs also increase your risk of pancreatic and prostate cancers, and research continues on how it promotes melanoma, stomach and uterine cancers.
Kim and I spoke as much about insurance as did about the testing itself; not just whether insurance will cover the process but what they will cover when the results come back.
Family history got me in the door for genetic testing but feeds into the justification for surveillance and monitoring once the results come back. Multiple generations of cancer helps; my father’s side of the family chipped in with some pan-can, chronic prostate issues and the on-again, off-again prostate cancer my grandfather lived with. Early-onset cancers count here too, so my maternal aunt’s breast cancer diagnosis in her 40s bolstered my case.
I am the picture of elevated cancer risk. I’m also extraordinarily lucky from a health insurance perspective.
One of the few benefits of being a public school teacher in New York state in 2025 is “the good insurance.” My wife, 26 years into her teaching career, carries the family’s health insurance coverage, a comprehensive, generous plan that offers comparatively low deductibles — 80% of any office visit plus 100% of my labs. If I was referred to the office’s social work team for support due to the results, that would also be covered at 100%. My responsibility was for the last 20% with an out-of-pocket maximum of $400. I recognize my privilege in this regard. My final tab was about $50 for the office visit.
The results, and my family history, also mean that insurance is more likely to cover more regular testing and monitoring of my health depending on the results.
Blood was drawn and sent to a lab for testing. The results had one of four possible outcomes for each gene:
POSITIVE: I have a mutation of in both copies of a particular gene that could increase my risk of developing the cancer.
NEGATIVE: I don’t carry a damaged versions of the gene.
CARRIER: One copy of that gene is altered, but the other one is healthy. It doesn’t increase my risk of developing the disease, but my kids had a 1 in 4 chance of inheriting it from me.
UNKNOWN: The test results were inconclusive for that gene. Simply, genetics is such a relatively new and evolving field that they aren’t sure what they see.
The results stay on file and, as more is learned or recommendations are changed, the practice communicates with their patients to let them know.
What would happen after that depended on what popped up. Take the BRCAs, for instance. BRCA-2 indicates elevated risk for male and female breast cancer, ovarian, pancreatic, prostate and melanomas. Patients would be put on an annual mammography schedule — regardless of gender — and screened appropriately for the other risks. Kim said that in the past year, the guidance changed regarding BRCA-2 and pancreatic cancer, and now those individuals are screened annually.
Screenings could include ultrasounds, MRIs, PET and/or CT scans, or endoscopies. Or a combination.
And, it’s all expensive. You just can’t walk in off the street and get a MRI, no matter how good your insurance may be; a medical justification is needed. Family history and results from a genetic test are the ticket.
The question remained: Did I really want to know?
Final Thoughts on Finality
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Please don’t.
Let’s just say, yes and move on with life.
Please?
In my case, I have a Dell: constantly overheats and runs out of battery quickly.
For your own safety, never look a red-headed child directly in the eye. Gingers can steal your soul to replace the one they were not born with.
I was born in 1977, when smoking while pregnant was not frowned upon. I’m also missing a large chunk of my pectoralis muscle and my L1, L2, and L3 vertabrae are fused together. And I had asthma when I was in high school. I’m sure none of that is connected.
Though we both sold our houses and moved into separate neighborhoods — about a mile away from one another — we still get together with one another socially, albeit less often.
Five years older than my age today
Informative and easy for this old cat to read/decipher. Thanks.
For much of my career, I wrote about science and the environment. Those stories always required explanations of science. What you've done here with genetics is as good as it gets about science writing. Well done.