Not CE&P: Genetic Testing?

[audette]

Has anyone here done hereditary/genetic cancer screening?


I have quite a cluster of cancer in one part of my family history.  Several different types, across multiple family members, but cancer of some type is creepily prevalent when reviewing it.

My doc today had me step thru a decision tree screening for eligibility for genetic cancer testing, and it indicated I was eligible.  I'm not shocked, because I konw my family history.  I'm mostly puzzled to the "why now", but I'm betting that falls into the marketing of genetic testing to doc's offices and the tests themselves becoming less expensive.


The doc warned me that getting the test results could render me uninsurable regarding life insurance, so I ought to get that in order first.  Makes sense, but also makes me a bit sad to hear.  I'm already basically pointless to insure due to other things (for a cost we are willing to pay), so this isn't a big detractor for me, but it would suck to have to make a choice between getting this testing done and being able to get life insurance.



I know one or two folks who were tested for BRCA (I thought for just that gene), but the test my doc has me doing will examine additional genes, as well.  The doc ofference genetic counselling, which I suppose makes sense for folks who are really stressed about it.  I'm mostly just curious.  The test isn't going to change what my risk is, it's just going to give me more information about my risk.  I figure if I need genetic counselling, it would mostly be needed _after_ getting results, assuming any say my risks are elevated.

[MixedBerryJam]

Yup. That’s the only advice I have: get insurance first. It’s not a guarantee, of course, but I am such a believer in life insurance that really, anything that gets people to do it and not just talk about it, I’m all for it.

[Susie]

I already had term life insurance, but I bought a second term life policy right before I did genetic testing a few years ago.  I also have a lot of cancer in my family that could be genetically linked, e.g. through BRCA2 (breast, ovarian, prostate).  It turned out that - surprise! - I don't carry any of the 40-some mutations they tested for.  I genuinely expected to be a carrier of a BRCA2 mutation.

A couple things I was unpleasantly surprised by, during the process:

Even though my doctor's office told me that it was covered by my (common around here) insurance, the carrier denied the claim initially.  Eventually they paid for the testing, but not without a fight.  In my case they told me they would cover the test but that oops sorry the provider for the test was out of network.  So pre-clear it with your insurance for sure, both the test and who's doing it.

There wasn't a lot of support around the results.  I just kind of got them.  Since they were clear, that was ok, but I would have wanted a lot more support, particularly from a genetic counselor, if they hadn't been clear.

Finding out I was negative for those mutations was initially a relief, but has not turned out to be as reassuring as I thought.  My ob/gyn almost entirely discounted it, which undermined any relief I initially felt.  He has still been just as aggressive with cancer screening and prevention recommendations as before the genetic testing.  His argument was, well you still have all that family history, it might just be a mutation we haven't identified yet as being related.  He recommended I should have my fallopian tubes removed to reduce whatever ovarian cancer risk I have, due to my mom having died of ovarian cancer.  Both she and I had genetic testing at different times, and neither of us had any mutations detected.  I just didn't feel like the surgery was a good balance of cost/benefit so I declined.  His next recommendation was to do annual pelvic exams, annual mammograms, annual breast ultrasounds, and annual transvaginal ultrasounds to monitor my ovaries, with the TV US offset by 6 months from my annual pelvic exam.  I did the TV US once for a baseline, but have declined since then.  I'm not sure I feel "good" about the declines, because what if I'm wrong?  He's the expert, not me.  OTOH I can't justify an abdominal surgery entirely because "what if," when genetics don't seem to indicate any particular predisposition.

Another provider might balance cost (not just monetary but also to my mental health) of all this screening/prevention differently, but so far I'm not sure the results have been valuable for me.  They haven't really changed my healthcare decisions, nor have they given me much relief from assuming the worst.  So I guess I'd suggest only doing the testing if you feel it would change your decisions in the future.

[cattledogkisses]

I have had BRCA and NF1 testing done. Are there any specific questions or concerns that you have?

[orval]

We are dealing with a similar decision but for our teen son. DH is getting tested and if he is "positive" for a certain type of heart condition, my ds should test as well. Through our financial advisor, we have pretty much concluded it is not worth the cost for either a small $10k type youth policy or a larger whole life policy that would be like $5k/yr in premiums. Not sure if those are the only options for kids, our fa has done the research just this week. If my ds is negative, he will not have to get yearly testing done (echo, ekg etc). So it is beneficial to know if he is negative/positive.

[Pibs]

I struggle with this, because I wonder how safe my info really is. And will it be able to be used against me in the future? 23andMe always seemed like a terrible idea to me, and now that they've had a data breach they're saying trying to pass the blame onto people who used their service? I feel like I would want legal protections (which are probably worthless in the US) in place before getting tested, but I also really understand why someone would want to get tested.

[audette]

I think I'm mostly looking for after-testing ipmacts, for those who are willing to share.


The testing or not doesn't change my take on life insurance (it's not effective for me in my situation, and hasn't been for some time).

I hadn't thought about the data security aspect, but as weird as this might sound... this is medical testing, not family history testing, so in theory this test will be covered by HIPAA. It's not much, but in my brain that at least increases the penalties if there is a breach, even if it doesn't stop it.

[spindle92]

I've had genetic testing done twice and swear by it.

The first time was because my mom was diagnosed with Breast Cancer and is BRCA2 positive. They actually tested me for 17 different mutations. (I can look up the tests if you are curious about exactly what other mutations they were testing.)

The 2nd one was a genetic test for my depression and finding out why I was having such a hard time with medications not working.

[plutosmoon]

I didn't have cancer genetic testing, but did recently do genetic testing for Huntington's Disease. I was advised to have life insurance in place first, along with long term disability, but the consensus among my online HD communities is most untested folks were denied if a parent was already diagnosed. Fortunately, I had both in place prior to knowing my family history.

The process included genetic counseling before testing and the company I ultimately went with offered additional counseling post test results. I had pre genetic counseling twice, since I started the process one place and didn't like their process and vibe, they were very negative about testing. The second place was all telehealth, but did not take insurance, I paid $500 from my HSA. They were much better about letting me lead the process and allowed for as much or as little counseling as I felt necessary. I think the counseling both before and after is helpful, but some places can be overkill. My dad didn't receive any genetic counseling because they were testing as a rule out with no expectation of a positive test at his age. He still doesn't fully understand the disease and the implications.

[meganew]

PDQ:

I have a close friend who had genetic testing done and it came back positive for a mutation that qualified her for some early testing. One of those tests found something that would have been a much, much worse situation had she waited until the typical age.

[carriebear822]

I got tested for a gene and was told the same thing about life insurance. I ended up testing negative, but one of my sisters (I have 4) did the same test and tested positive for the gene. She did not get her affairs in order before the testing, so getting life insurance would have been cost-prohibited. She now has the disease so she is completely out of luck.

[sugarbear1]

I was tested a few years ago after (another) cancer scare. I'm so glad I was, because the results qualified me for a prophylactic mastectomy and reconstruction. I did have a life insurance policy already.

[ellipses84]

I have and I’m BRCA2+. They will test for various mutations and if you have it, your insurance will cover extra monitoring and preventative treatment. I recommend you get / increase life insurance if you want to, before the genetic testing.

In my case, both of my grandmothers survived breast cancer but the genetic mutation comes from my paternal grandfather’s side (verified because he is from another country and extended family there also tested +). It’s related to several cancers people don’t necessarily think are related and my dad died in his 50s from a cancer that is not yet proven related, but he must have had the genetic mutation for me to have it. Our is a 50% chance of passing it down. It causes people to get cancer much earlier than typical. That’s important to know because a Dr may not send someone under 40 for a mammogram because insurance won’t cover it, for example, unless there’s a lump and then it may be too late. But if you have the genetic mutation, insurance will cover the standard of care which is regular mammograms, ultrasounds, MRIs, to catch cancer very early or get a preventative mastectomy and reconstruction, etc.

[ellipses84]

If you are positive for any mutation I would get genetic counseling because they will be able to explain the results. The are genetic mutations that aren’t as common that most people haven’t heard about and they can break down what it means in terms of risk and options. Mine was in conjunction with talking to an oncologist and I see an oncologist for monitoring every 6 months.

[spindle92]

In regards to counseling, both of my tests required genetic counseling both before and then a quick session after I received my results.

I really appreciated that because A) it explained what they were looking for and what that could mean long-term for my health if they found certain mutations and B) Afterwards I was able to talk about my emotions that I was feeling. For the BRCA testing I was 100% certain that my results would come back positive (because all of the females in my family that had already tested, were all positive) and I had made up my mind that I was getting a double mastectomy and hysterectomy. Much to my surprise, I was negative. I cried like a baby at those results and almost felt guilty because everyone else had it.

[underwaterrhymes]

Yes, I had genetic testing done a few years ago.

Prior to testing more broadly, in 2012, I learned I had NF1, which is a potentially cancer-causing diagnosis. This diagnosis alone made it challenging for me to get life insurance. I was able to get it, but it is very expensive and my coverage is nothing compared to what my H was able to get. Fortunately I’m able to get some through work that doesn’t require medical information.

I am the only one in my family with NF, though. Since my dad’s side of the family has massive amounts of cancer (all four of his siblings died of cancer, as did his dad; his mom died in a house fire), I wanted to do additional testing.

It turns out I also have a CHEK2 mutation. This mutation increases one’s risk of breast cancer, colon cancer and prostate cancer, and they’re studying whether it also increases other cancers (like blood, kidney, and thyroid.)

Coincidentally, my sister tested around the same time and she shares the same mutation. We also confirmed it’s from my dad’s side. (Although he hasn’t tested, my mom did and was negative. Since my sister and I share the same mutation, we know it’s hereditary.)

Because none of the women on my dad’s side have lived past 60, and because I had thirteen procedures on my boobs in 2 years and my breast cancer risk was estimated at around 50%, I made the choice to have a bilateral prophylactic mastectomy with DIEP reconstruction in 2022. They found precancerous cells in my left breast, so I’m extremely relieved I made that decision.

Good luck with deciding. I’m glad I found out because it’s enabled me to monitor my health, but due to the two issues, I have many, many doctor’s appointments and scans. Stress levels can get high, but I’d much rather be able to proactively manage my health, than find out too late about an issue.

[redhead610]

I chose to get genetic testing 2 years ago. My mom passed very suddenly from what turned out to be stage 4 endometrial cancer, and her oncologist recommended my sister and I get tested. I also had a grandmother pass from pancreatic cancer, so there was concern for them to be linked with a specific gene mutation.

I was tested for a lot (75?) Of mutations - all negative (and my sister too). Had one been positive, it would have meant earlier screening/more often for certain conditions linked to the mutations - for example, mammograms and colonoscopies - to help in earlier detection (leading to earlier treatment) of those issues.

My mom had a fear of doctors and went unchecked until it was too late. I have a lot of health anxiety, but I'd rather be proactive about it.

I went to a genetic counselor referred by the oncologist and she went very in depth with us, before and after testing, family history, etc. Mine was denied by insurance first but they appealed it and then it was covered.

[underwaterrhymes]

I should add, I received a phone call from a genetic counselor when I received the CHEK2 mutation diagnosis. Then I went in person to a genetic counselor and oncologist. I see my oncologist annually (usually virtually) and she goes over new information they’ve learned about my mutation. She and the genetic counselor have done a great job talking about what I need to do to be proactive.

I get colonoscopies every 3-5 years, and when I had breasts, I had mammograms and MRIs alternating every six months. (Post-mastectomy I get only manual exams unless they find an issue.)

For NF1, I see a neurologist annually and have brain MRIs every other year. I also see an ophthalmologist annually and see a dermatologist annually as my risk for eye tumors and melanoma are increased.

[simpsongal]

Just noting this is helpful. I had a colonoscopy recently and the doc wants me to see a genetic counselor. I’ll report back once I schedule (I have term life insurance through age 49 but was rejected for more bc I was diagnosed with polycystic kidney/liver disease). I’ll make sure to tell my kids to buy insurance early.

[joy]

Yes, I have. It was a much more extensive panel than just BRCA. I had to answer some questions first to be sure I had the right outlook.

One was this: the test will check if you have the gene for a certain gastric cancer. The only treatment is stomach removal. Would you go through with that surgery?

[joy]

I’m a scientist. I think getting genetic testing without genetic counseling should not be allowed. I had counseling before my @@pregnancy genetic testing @@ and my own cancer screen. I really think offering these tests without the right advice and explanations is incredibly foolish by the medical community.

[sakoro]

Jan 18, 2024 17:18:46 GMT -5 audette said:

I think I'm mostly looking for after-testing ipmacts, for those who are willing to share.


The testing or not doesn't change my take on life insurance (it's not effective for me in my situation, and hasn't been for some time).

I hadn't thought about the data security aspect, but as weird as this might sound... this is medical testing, not family history testing, so in theory this test will be covered by HIPAA. It's not much, but in my brain that at least increases the penalties if there is a breach, even if it doesn't stop it.

If you worried about privacy, go through a medical lab, not ancestry or 23&me.

I worked for a voluntary anonymous genetics research bank for a few years and got tested ( independently from my job) for FH and BRCA1&2. All negative thankfully. That doesn’t mean I don’t have any genetic disposition to cancer- I could have a gene they haven’t identified yet.

I highly recommend going with a testing scenario that provides access to genetic counseling. Some commercial companies will just send a list of potential genetic counselors in your area that may or may not take your insurance or even have appointments available. Genetics is extremely complex and many physicians can’t keep up with the changing science. You don’t want to be waiting weeks for an appointment after a scary result.

[bee20]

joy, if you answer no to potential stomach removal do they just not test for that gene?

Reminder to those discussing life insurance that Social Security survivors benefits pay out to minor children and a spouse taking care of said children. It's not a huge windfall but it's several thousand a year for most families that qualify.

[sonrisa]

In my experience, genetic counseling = explaining the results of the test and some discussion of possible health impacts, but very limited. Basically ‘this is rare. We don’t know what missing this chunk of DNA means. so we are going to ignore it) I had to do my own research in PubMed on the deletion specifics to get any real information. PDQ - it actually could have very serious consequences for a few systems but Kaiser won’t run any bliss tests to find out).

It certainly isn’t ‘counseling’ as in therapy.

[sakoro]

Jan 19, 2024 1:30:17 GMT -5 sonrisa said:

In my experience, genetic counseling = explaining the results of the test and some discussion of health impact s(but very limited. Basically ‘we don’t know what it means. so we are going to ignore it) I had to do my own research on the specifics to get answers). It certainly isn’t ‘counseling’ as in therapy.

To add on, genetic counselors are trained to interpret the results and help you understand (e.g. what does 1:500 chance really mean and how concerned should you be based on other risk factors). They can help you and your doctor assess treatment options. They aren’t psychotherapists.

[underwaterrhymes]

One more thing I want to caution: if you DO decide to test and DO find out you have a genetic mutation, be wary of online groups. I joined an NF1 group and a CHEK2 group on FB and very quickly left the NF1 group as it gave me anxiety and made me sad and hid the CHEK2 group, which enables me the ability to check in every now and then, but not have it overwhelm my feed. (I did the same thing with a mastectomy / DIEP FB group I’m in.)

It’s really important to remember that the algorithms prioritize worst case scenarios, so I also advise giving yourself time to process and work with your doctors before making any major decisions (aside from any suggested screenings, of course.)

When I first found out about CHEK2, my inclination was not to get a mastectomy and to stick with screenings. At that point I only knew of the CHEK2 risk range by itself (which is 20-30%). After many procedures (and lots of stress) over the course of two years, I started to rethink it. Following a surgical breast biopsy, both my oncologist and my breast surgeon raised the idea of mastectomy, saying that my risk was likely actually much higher than initially thought due to having several risk factors. It was an easy decision for me at that point but not something I did lightly or without tremendous consideration.

[joy]

Jan 18, 2024 22:40:03 GMT -5 bee20 said:

joy, if you answer no to potential stomach removal do they just not test for that gene?

Reminder to those discussing life insurance that Social Security survivors benefits pay out to minor children and a spouse taking care of said children. It's not a huge windfall but it's several thousand a year for most families that qualify.

No. The question is more to gauge your head space. I said that I would rather know I had the gene and could take the proper medical steps rather than not know and be surprised. They were fine with that answer.

But, it’s a grim thought exercise. If you were going to find out that a gene could change your entire life, are you ready to know that?

[ssmjlm]

I had a panel done to see if I'm a Tay Sach's carrier. That is not cancer related, but would have affected our future planning if I was. My dad is a carrier, but did not pass it to my sister or I.

[kitty]

PDQ

We discovered BRCA mutations in FIL's family after an untimely death and his sister really hounded her sibs to get checked. After FIL came back +, he then asked his adult kids to get checked. One kid came back + and is eligible for a special clinic or program at a local hospital that will give extra yearly monitoring and screening for various things. My DH came back negative for the mutation FIL has but did have another mutation which currently is not associated with malignancy but nothing concrete is really known. There was no recommendation for increased monitoring based on this result. The other sibling tested through 23andme and came back negative but DH's genetic counselor told him that 23andme only tests for some BRCA mutations but not all of the known ones and not the one FIL has. That sibling is supposed to get another "real" test but I haven't heard an update on whether they did.

The counseling was really just getting a family history and setting expectations for the type of info you would get and options for followup depending on the outcome before the test. Then after the results were in, it was making sure you understood them and getting you enrolled in the extra screening program if your results qualified you and you wanted to enroll. It's definitely not therapy - more like making sure you understand what is going on but I'll bet they have a list of therapists they can refer to if the results are bad and you are having a hard time with it.

[waverly]

Possible @@

I haven't had it done, but I ran into a woman who was telling me that both her daughters had it done (passed down on the father's side) and they tested positive for BRCA and whatever the gene is called for ovarian cancer, so they had both surgeries masectomy and hysterectomy.