Jared's Genetic Testing Journey: Did I Inherit Cancer? (Part 1)
I'm going to die one of these days, so I might as well narrow down how and when.
I’m going to die.
Eventually.
I mean, we’re all going to die, right? The container we pilot around every day has an expiration date. Science has advanced in such a way where some of the surprise has been dithered away, but no one can tell you exactly when.
The basic nature of primary medicine doesn’t offer much more than if p, then q thinking. The doctor tells you that you’re a prime candidate for a heart attack if you don’t lose some weight and stop eating chicken wings for two meals a day. They state the obvious and prescribe the short-term fix that will keep you alive so they can continue to reap the rewards of billing your health insurance company $250 for a 10-minute consultation, while accepting kickbacks from Big Pharma. The practice I visit has me on pills for hypertension, cholesterol, acid reflux, and type two diabetes because it’s presumably more profitable to hook me on pills than refer me to a nutritionist. On the flip side, when I complain about back pain, the medication train screeches to a stop. No no, Mr. Paventi, there will be no muscle relaxers1. You should go to physical therapy.
It makes a lot of sense. Anyhow, they’re of no use.
Preventative medicine comes along with specialization. Think mammograms ordered by a gynecologist, colonoscopies performed by a gastroenterologist, and the like. These screenings are built into a calendar based on the increased odds of developing a particular treatable disease once you reach an age threshold. Are their screenings for Alzheimer’s, an age-related fatal brain disease? Sure, but it involves expensive brain imaging that Medicare may not pay for. Most doctors don’t know how or are uncomfortable diagnosing Alzheimer’s or other dementia and many see it as a losing game since there isn’t an effective treatment, a fact further compounded if you’re black or brown.
Which brings us to genetic testing. Not the direct-to-consumer kits you buy at Walmart to find out if there was another family that mom or dad didn’t tell you about2, but the testing process that takes place inside of a medical practice to assess your risk of developing a disease at some point in your life. For instance, our second child had genetic testing via amniocentesis while my wife was toting her around. Actually, she had two sets of tests3; the first came back with a series of false-positives that the genetic OB/GYN specialist didn’t trust. The B sample showed a clean set of genes.
Medical-grade genetic testing came about in the 1950s. Doctors had been studying genes for more than a half-century — the structure of DNA was discovered in 1953 — but mapping the genes took more time. In 1959, Jerome Lejeune determined the genetic pattern of Down syndrome — an extra chromosome in pair 214. It was the first-of-its-kind link between chromosomal abnormalities and genetics. His work on these pathologies opened the door to mapping other trisomies, developmental disabilities like Wolf-Hirschhorn syndrome and sex-related abnormalities like Turner syndrome. Genetics and cytogenetics is a massive part of biomedical research, which continues to investigate causes and predispositions for diseases and conditions with the intent of detecting and developing treatments and interventions.
In the meantime, why not make some money from the science? The advent of consumer-grade genetic tests exploded in popularity 2017 as people wanted to know their ethnic makeup, a sort of spitball guess by the testing companies with varying degrees of accuracy5, and research their ancestry. The American Medical Association pegs the number of people who have taken the tests at more than 100 million. That’s a lot of spit being sent by mail.
It’s big business for consumers and the medical industry. Estimates put genetic testing as worth about $12 billion, and analysts see significant growth over the next decade. Testing for predispositions and risk represented more than half of the money wrapped up in the industry. This predictive testing is only going to become more prominent as testing for genetic disease carrying is anticipated to grow by 22.5% by 2034.
Thanks Obama Bush
Living in the age of Trump may make you long for the days of President George W. Bush, lovable lout and war criminal. He started off with the perception of being anti-science, giving a nationally-televised address in 2001, announcing that he would prevent the expansion of embryonic stem cell research because of his faith and position against abortion. Less than five years later, he issued his first veto for a Congressionally-approved bill to ease restrictions on federal funding of this type of research.
Bush did sign the Genetic Information Nondiscrimination Act into law in 2008. GINA, championed by Sen. Ted Kennedy6, prevented health insurers from canceling, denying, refusing to renew, or changing the terms or premiums of coverage based on genetic predisposition and barred employers from using genetic information when making employment-related decisions including hiring and firing. If you undergo genetic testing for breast cancer and the results show you have The Gene, you insurance company cannot refuse coverage7 because of the cost and your employer can’t dump you from the payroll or hold back your career8.
The bill doesn’t improve access to testing. According to a 2022 study conducted by researchers at the Universities of Iowa and Michigan, less than 10% of the public has been offered a carrier test and less than half have completed the process9. The same study also showed that scientists and healthcare workers were more skeptical of the bill and the insurance industry than their opposite peer group, believing that companies would still use genetic testing results to discriminate against coverage. After all, Big Insurance hasn’t done much to engender a lot of positive feelings for itself.
GINA does not prevent long-term care insurance, life insurance or disability insurance from refusing to offer you a policy. The bill specified only health insurers.
Now getting your health insurer to pay for these tests? That’s a whole other battle. UCLA conducted a study and found that 43% of people whose doctors recommended genetic testing had difficulty with their insurer paying for the procedures. Justifying the cost to an insurer is easier when you can show a generational link to a disease like cancer. If you can show multiple generations, all the better.
It was late January 2025 in the year of our Lord when I had a consultation for my upcoming colonoscopy and endoscopy10. The lucky gastroenterologist who drew my name in the office lottery was running through my family history when we got to the “Who had cancer?” section. My father’s side of the family is clean aside from some prostate stuff that my primary care doctor monitors. My mother’s side of the family is a whole different story:
✅Mother: pancreatic cancer diagnosis at 52, died a few months later
✅Mother’s sister: double breast cancer in her 40s; still alive
✅Mother’s mother: breast cancer in her 70s; died from Alzheimer’s in her 90s.
✅Mother’s father: pancreatic cancer in his 70s, died a few months later
Notice a trend there? Yeah, it’s not great.
This wasn’t the first family medical history I ever completed but prior to this day in late January 2025, no other doctor spoke a word. Dr. Thomas Lee11 of Associated Gastroenterologists of Central New York, broke the streak. “How the hell has no one ever noticed this before,” he asked.
Dr. Lee was indignant. To him, it was clear that my cancer risk was higher than the average person as a very specific type of cancer affected two generations of my family, including my parent. He took it upon himself to recommend me for screening, including:
A MRI series of my abdomen to look for any potential growths
Genetic testing and counseling with a local oncology office
If my insurance rejected the screening for any reason, he said to contact him and he would fight it for me.
It took a bit, but I had my MRI a few weeks later. It wasn’t my first time in the tube. Back in college, I stumped doctors who couldn’t determine why I would just fall over while standing. I would grip the edges of my steel dormitory bed at night because my body felt as if the entire bed was flipping over. The MRI revealed an inflamed nerve deep inside my skull.12
Aside from the ill-fitting gown, it was painless, and I was in and out in less than 30 minutes.
Fast-forward to early March. I was just coming out of anesthesia from my colonoscopy when Dr. Lee popped into let me know that the procedure went fine and, oh by the way, the MRI showed nothing.
The next step would be a visit to a local onocology practice for the first step in my genetic counseling journey. My guide? The sister of my former next-door neighbor.
Final Thoughts on Finality
I can remember a time in this country when men were PROUD to get cancer, goddamn it! When it was a sign of manhood! John Wayne had cancer twice. Second time, they took out one of his lungs. He said, "Take 'em both! Cuz I don't fuckin' need 'em! I'll grow gills and breathe like a fish!
— Denis Leary, No Cure for Cancer
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Something something opiate addiction.
Speaking of which, 23andMe declared bankruptcy on March 24, 2025, so go download your data.
You’ll remember the Q&A with my wife regarding miscarriages from last year. Also keep in mind that she was 40 when the baby was born.
Thus why the syndrome’s name is also Trisomy 21.
According to Ancestry.com, I’m 98% Southern Italian and 2% Spanish. My sister — same parents, mind you — is 93% Southern Italian, 2% Spanish, 2% Balkans and 2% Northwestern European.
Remember bipartisanship?
It’s fucking expensive.
How would they know? Well, not all insurance is the same. My last employer self-insured and hired a major company to provide the services of an insurance company. HR and finance departments receive reports on the types of tests and treatments that are being paid for by the company, as well as the prescriptions being written. Don’t think so? Pay better attention to what you’re signing the next time you are at the doctor’s office. You release the details to the payee. And, if you have health insurance, ¯\_(ツ)_/¯.
Prince AER, Uhlmann WR, Suter SM, Scherer AM. Genetic testing and insurance implications: Surveying the US general population about discrimination concerns and knowledge of the Genetic Information Nondiscrimination Act (GINA). Risk Manag Insur Rev. 2021 Winter;24(4):341-365. doi: 10.1111/rmir.12195. Epub 2021 Nov 19. PMID: 35663290; PMCID: PMC9165621.
I’ve had acid reflux issues for years and my primary care doc wanted to see if there was any damage. The results were clean.
Coincidentally, my father sees Dr. Lee.
I actually had two series of MRIs that day. The tech offered me headphones and my choice of radio station while I was in the tube. I chose the local Howard Stern station. This was 1995, back when Howard was funny. I laughed and messed up the first set of images. Everyone was very happy with me. This series was less eventful.
Well done, Jared. I'm now 79. That dirtnap gets closer. So I just try to get the most I can of each day I wake up. Thanks for this. My family has a similar history to yours.
Jared -- I'm not sure what I like more, your writing style or your footnotes. I look forward to reading these every Friday. Thank you!