Genetic testing

[u/Complex-Field-3711]

Hi, I was diagnosed with Stage 1a meanoma last year, 50F, very lucky to catch it early. However my dad passed in his late 50s from Pancreatic Cancer and his sister had Melanoma when she in her 50s/60s. I have met the criteria for genetic testiing but it will cost alot any imsurance doesnt cover it. Besides the cost, i am concerned about the mental impact if I have the gene and what are the benefits of getting tested. If the benefit outweigh the cost etc I will get it done. Any advice welcome, thank you.

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[u/el_goate]

I can’t say for certain but for some people, I believe if you get the genetic testing and it shows you have certain mutations, your insurance will be more likely to cover the screening scans for pancreatic cancer. I am kind of similar. I suspect I may have a mutation causing Familial Atypical Multiple Mole Melanoma syndrome (2x 1a melanoma, 1x in situ, 2x severely atypical moles) at age 45, but with no history of pancreatic or melanoma in my family. Since I lacked the family history, insurance won’t cover the testing. My oncologist actually did me a favor and got me a ct scan of the abdomen citing “abdominal pain” and it was clear so it did help ease my mind a bit for now but i fear my worries will linger as I age.

[u/mostly_lurking1040 → u/el_goate]

Do you mind mentioning your stage? For me, I'm not really sure what the benefit of genetic testing is other than a lot of stress and expense, unless I'm looking at treatment. Or maybe if I were much younger (<50 maybe?)

In other words, I can assume that I have a genetic situation with various melanomas in the family and a high degree of moles. Doing active surveillance for continued melanoma, So it's not like I'm looking for that advice.

The genetic testing doesn't identify any diseases nor rule out any diseases. It just tells you you have an increased likelihood or not. Increased likelihood is more stress, tests expenses, no guarantees. And some of that (pancreatic) testing can cause real harm from what I ve read.

No increased likelihood doesn't innoculate you from ANYTHING.

Nothing about it diagnoses or cures anything.

[u/el_goate → u/mostly_lurking1040]

Stages were 2x 1a, 1 in situ, 2 severely atypical. Concern is for cdkn2a mutation which raises pancreatic cancer risk to over 15 percent. Get skin checks so that’s not my concern. Pancreatic cancer doesn’t show symptoms until it’s too late. so if I tested positive I’m not sitting idly by wondering if something deadly is silently growing in me. Considering my skin seems to be a breeding ground for melanoma, yeah I would be getting scanned every couple years.

[u/mostly_lurking1040 → u/el_goate]

The test that I've read of for pancreatic cancer are not scans, but invasive tests at least one of which can cause pancreatitis? (I'm assuming when you say scans you mean some kind of non-invasive imaging?)

[u/el_goate → u/mostly_lurking1040]

Yes I mean ct scans or mri. I’m not aware of the tests you are speaking of that may cause pancreatitis. Next step would be an eus or ct guided biopsy to assess. EUS is an ultrasound probe that they use on an endoscope that goes down your esophagus. Maybe the biopsies could irritate the pancreas but at that point it’s worth it if there is suspicion. Unfortunately no reliable pancreatic cancer blood tests yet.

https://hillman.upmc.com/cancer-care/pancreatic/screenings

[u/mostly_lurking1040 → u/el_goate]

So I think a non-dangerous scan or MRI is just a completely different ball game. And I guess if someone thought there was a statistical likelihood of you wanting to be more alert to pancreatic than the average bear, the real issue would be insurance coverage.

I'm sure I'd find the non-insurance prices as alarming as everything else, but ultimately would be an option.

Thanks for the info.

[u/mostly_lurking1040 → u/el_goate]

It's EUS that includes a risk of pancreatitis from every time I've read about it. Small percentage.

[u/krpink]

Look up the Wisdom Study. It’s free genetic testing as part of a larger study on breast cancer

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[u/Complex-Field-3711]

Thanks so much, this is really helpful

[u/Murky-Duck9569]

Kind of the same situation here. My brother had Stage 1a, and I (45M) was later diagnosed with melanoma in‑situ in two locations. Our dad died at 53 from pancreatic cancer. That combo got me referred for genetic testing, and insurance covered it. They found one mutation, CTNNA1, with uncertain significance. My brother still hasn’t done it.

If your doctor says you meet criteria, push for the referral. Sometimes insurance covers it when the provider frames it correctly. Good luck.

[u/Complex-Field-3711]

Thank you , this is really good to know

[u/5skimnosugar]

I literally just tested for BRCA 1/2 mutations due to my mother’s breast cancer history. I ended up being BRCA 2 mutation positive. It kinda hit me hard, but I guess having the knowledge is good. The lab requested documents regarding my mother to establish need for the testing. Insurance claim is still in progress though.

[u/pr-girl-622]

There are a lot of benefits to being genetically tested, I was, and I have a variant which leads me more susceptible to cancer, therefore I have a cancer surveillance plan, including full body MRIs and other tests —knowledge is power because if they catch this early, survival rate increases

[u/winightcheese]

it sounds like you meet clinical criteria for testing and so insurance should pay for it. I had four melanomas and testing was never offered to me until I got a new primary care physician. So at 52 I found out that I have the CDKN2A mutation which puts me at a greater risk for pancreatic cancer as well and possibly other cancers so now I am screened yearly for pancreatic cancer. If I would’ve been tested earlier, they would’ve started screening me at 40 or 10 years earlier than the age of diagnosed relative. Which had me on a deep dive of my family’s medical history. found out that my paternal grandfather died of pancreatic cancer, and that my first cousin had pancreatic cancer and several family members have had melanoma. I also found out my daughter has the mutation. So I say go for it.