Not CE&P: Genetic Testing?

[chickadee77]

I'm in the process of doing this (awaiting results). My counselor said the same re: life insurance, and said that even if I test negative they would do a risk assessment on me because I definitely have an increased chance due to familial occurrences.

She also said that the company that does the testing for our system frequently writes off balances, so while my insurance *should* cover it, if they don't, the company has a max OOP that I pay if I simply opt to not go through insurance. Like, a couple hundred bucks, so reasonable IMO (@@@@@ For anyone that did M21 testing, they had a similar policy; it might even be the same company, I'm not sure)

[wildrice]

FWIW, a law exists where you cannot be discriminated against for employment reasons due to genetic information - even suspected genetic information (i.e. finding out that a lot of cancer runs in your family). Obviously laws are broken all the time, but you should be protected www.eeoc.gov/genetic-information-discrimination

I have not done genetic testing, partly out of laziness. My mom did have breast cancer but tested negative for BRCA, but IIRC the fact that she had cancer at all would mean I qualify for insurance purposes. I think I would like to know if I carry any genetic disorders that are likely to shorten my life - certain ones I would likely do something about (like gyn cancers) and others I would likely just try to make lifestyle changes to avoid (like I'm not going to remove my stomach preventatively, but if cutting back on certain foods might help prolong its health I would probably do that). I tend to think for me that more information is always the better option - it helps me feel like I'm in control of what happens because I can choose my next steps. But I also have done nothing to actually make it happen so I guess it must not be that important to me!

[audette]

I really appreciate the posts and discussion here.


I definitely think going with a medical option is my preferred route, over 23&me type things. And it sounds like the medical tests may be more thorough, which is a boon.


The doc did offer up some info on genetic counselling to consider before testing, but... as weird as that sounds, I'm not sure I feel like I need it. Maybe that is me being foolish. Maybe it's my personal situation of knowing the family has a _lot_ of cancer diagnosis in it. So much so that when I told DH about the test, his response was "finally! You'd think they would have considered it sooner when you bring in a printed off list of family history for each new doc..." Having compiled that family history, the testing may help me understand better if there is is a hereditary connection to it all. Might not, too, but it at least means I can say I tried to learn more about it.


My gauge to the question about stomach removal, or other similar scenarios... I'd talk with my doc about options. For some, increased surveillance, or specific markers/symptoms to look for may be enough. For some I might be willing to consider surgery. Depends a lot on what it is, and how easy it is to monitor, and how elevated the risk happens to be. Counselling at this point could definitely be useful, once I have results in hand, to help make those decisions. Be that counselling with a system specific doc, or an oncologist, or what have you probably depends on exactly what the report/result says. "It depends" is a crap answer, but it really does depend on many factors.

[sakoro]

Jan 19, 2024 12:09:31 GMT -5 audette said:

The doc did offer up some info on genetic counselling to consider before testing, but... as weird as that sounds, I'm not sure I feel like I need it. Maybe that is me being foolish. Maybe it's my personal situation of knowing the family has a _lot_ of cancer diagnosis in it.

The genetic counselor might be helpful in selecting which genes to test for. It sounds like there are multiple complex cancers in your family history, so not as simple of just doing BRCA1&2 and calling it good. Some of the cancer genes are associated with certain cancers but the evidence isn’t great and there might be stronger environmental and lifestyle factors. Personally I would start with the GC unless your doctor is extremely well-versed in cancer genetics.

[joy]

audette - sorry, the question was more stark than “wait and see.” If you have the rare mutation, your risk of gastric cancer was quite high (60 - 80%) and early detection is incredibly hard. It is recommended that people with this mutation have total stomach removal to remove the cancer risk.

It’s a real situation and also a good thought exercise. And also supports some of my thinking why generic counseling before and after the tests are needed. Other mutations will benefit from the wait/see approach.

[gemini79]

I've had genetic testing done and genetic counseling.

Personally I wouldn't forego genetic counseling before or after the process. There are a lot of things that honestly you think you might know but you don't.

I have Lynch syndrome which is the most common cancer causing genetic mutation, but about 90% of people don't know what it is or that they have it.

You do want to set up life insurance before getting tested, but as others have said if you have a mutation it can be super important to know, bc literally it impacts screening or or life altering prevention actions you might take. Fir instance, in my case, with lynch, the risk of endometrial cancer is double that of the normie population and it strikes premenopausal, young women...yiu need to be extra aware of period changes, stay on top of exams and they recommend hysterectomy as prevention.

I had no idea, and I would have done SO MUCH differently with my own care if I knew I was at risk.


Also, I don't pay for screenings at all. They are all coded through Lynch.

It makes a big, big difference.

If your Dr is bringing it up bc they did your family tree..they suspect there is a link. They don't do that for everyone. I'd consider what they are saying and how they are looking at your care (they care for you and see something!)

[4speedy]

I was diagnosed with breast cancer a year ago and was tested.  I found out I have a PALb2 (not BRCA, it’s kind of a rare mutation, not much is known about it yet) mutation that puts me at high risk for breast, ovarian and pancreatic cancer (and prostate cancer for men).  When I was tested, they looked at roughly 90 different mutations because cancer runs in my family.  My mom elected not to get tested because there was cancer history on her side of the family but not the ones mentioned above.  She’s 81 and said finding out if she had the mutation would not make a difference because she would not do anything prophylactically anyway.  Well, she was diagnosed with ovarian cancer 4 months later and was subsequently tested to see if she also has the mutation.  (it makes a difference with which drug therapy they choose after chemo to keep the cancer from recurring).  We were kind of surprised when she turned out NOT to have the mutation, her cancer was just random.  So I must have received the mutation from my dad, which we had suspected prior to my mom’s diagnosis because both he and his father had prostate cancer.  (My dad passed 12 years ago so no way to test him).  My sister was then tested and she is also positive for PALb2.

As far as insurance coverage, I already had a cancer diagnosis and very good insurance so my test was 100% covered and very easy to obtain.  My mom is on Medicare and her’s was 100% covered but a pain in the ass to get approved.  My sister is self employed with Obamacare and hers was a PITA all the way around.  It took 2 months to get approved, was only cover at 80% plus her deductible and she had to wait 2 more months to get an appointment at an in network provider that was 1.5 hours away.

My sister COULD have been tested for free by the same company that did my test, but only for the PALb2 mutation because she is a first degree relative of mine.  She wanted a complete panel so that is why she had to go through her own insurance.  (All of my first degree relatives can be tested through my testing company for free if they reference my file but only for the one mutation) My kids won’t be tested until they are older.

As mentioned, the affordable care act prevents anyone from being denied health insurance due to genetic testing results but life insurance is a whole other story.  I was already insured but my kids are screwed because of my diagnosis.  We plan to obtain life insurance for both of them when they are about 22ish (roughly at the completion of college) and then encourage them to get tested.  By then, it will be up to them decide to be tested since they will be adults.  If they test negative, we could drop the life insurance for them and let them sort that out on their own as adults.  If DD declines to test or tests positive, she will need to start annual mammograms at 25yo.

Since my sister and I both have the mutation, we both had our ovaries removed last month, prophylactically.  For the time being, she will not be getting an elective mastectomy but probably will in the next 4-5 years.  Until then, she needs to continue with yearly mammograms, monthly self checks and they are adding in an annual clinical digital exam (a nurse or doctor doing an exam by hand) but offset from her mammogram so that she is getting looked at every 6 months.

‘My sister was required to get genetic counseling prior to take the test.  I’m not sure why, it seems more logical to have results in hand so they know what they are counseling you about.  My mom and I both had our results first then got our counseling.  I went to my mom’s counseling with her.  My counseling was much more thorough, I’m not sure why.  I kind of got the feeling from the counselor that it was age related.  I was 52 with teenage kids, so I got a pretty thorough counseling on lifestyle changes, treatments, we talked about my kids and what to be aware of for them, etc.  My mom’s counseling was more like “ you’re 81 and have cancer so good luck to you.”  It struck me as though they had already written her off.  (All my doctors are affiliated with a very renowned cancer institute and all of my care has been through them, her doctors are affiliated with a rather average-at-best healthcare system, so that may account for it)

As an aside, we have 3 women in my family navigating this genetic mutation stuff, cancer diagnoses, and pre-emptive surgeries, one with very good employer provided insurance, one on Medicare and one with ACA insurance.  It has been really eye opening to see the level of care we each get and the hoops we have to jump through.  I am so grateful my sister has her Obama-care because it could be a whole lot worse for her otherwise but managing it is like a full-time job.