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Considering HNPCC testing

davidsonxx's picture
davidsonxx
Posts: 137
Joined: Mar 2007

I have researched the criteria for HNPCC and my family seems to fit the profile. I am considering genetic testing to confirm if I carry the gene mutation. I don't have any children so don't have to worry about passing it on to the next generation. I would like input from anyone else that has either had the testing or considered it. My onc said it would not change my treatment but some of what I have seen recommends a more agressive follow up schedule.

usakat's picture
usakat
Posts: 625
Joined: Jul 2006

Excellent question!

I had the testing done and tested HNPCC positive, so I hope I can offer some insight and a point of view. Keep in mind this is only my point of view - you must make your own choice.

I come from a long line of cancer survivors, but interestingly enough I did not meet the Amsterdam criteria for testing, but I did meet NCI criteria. My tumor was tested for microsatellite instability (ask you onc about this), and the results were that I had an aggressive tumor with a strong indication for genetic cancer, which lead to my genetic testing.

Subsequent to my testing my mom and many others in my family were tested, which resulted in a positive test for my mom, and some family members testing positive and others negative. I have two brothers - one will not test, one is on the fence, both are being nagged by their wives to have it done because they both have children.

I support my one brother who does NOT want to get tested. I support his concern for the potential of insurance discrimination should he test positive. While this type of discrimination is illegal in this country right now, can we really know for sure how this could affect us later on, especially if we had to seek healthcare outside a group policy? Big question, with no real answer. It is an "x" factor.

My brother and I had a few chats about his choice not to test and he agreed that he should act as if he had the test and tested positive, meaning he should undergo aggressive screening protocol for the rest of his life. He has discussed this with his doctor and his doctor supports this approach and will order tests for my brother accordingly - a colonoscopy every two or three years.

Beyond the insurance debate, at the news of my genetic cancer, several of my family members freaked out at the idea a familial gene mutation that causes cancer. It was a hail storm of emotion that served no purpose. We have a strong history of cancer - they should all have regular colonoscopies regardless of the results of a genetic test. Just because a person tests negative, they should not be lured into a false sense of security. There are too many other factors at play such as lifestyle and too many unanswered questions about the root causes of cancer.

Since you have no children, what would be the point of your test? You have already had colorectal cancer so regardless of whether you test positive or negative you should by all means maintain aggressive screening and health management.

So my advice is the same as I gave my brother, skip the test, but act as if you did it and tested positive. Protect your right to privacy and access to healthcare, while carefully managing your health.

Sorry for being long winded as usual, but if you have further questions, feel free to e-mail me here at CSN.

spongebob's picture
spongebob
Posts: 2599
Joined: Apr 2003

Davidsonxx -

My wife (uaskat) is sooooo smart! I also have the HNPCC gene (no, we're not kissin' cousins). I was tested at NIH/NCI. So many of my family tested positive for the HNPCC (SH2) gene gene in so many different generations, we get a Christmas card each year from the folks at the Human Genome Mapping project.

Like Katie, I am a HUGE proponent of the "assume you have the gene and get yourself tested like you do" plan. You really gain nothing unless you get tested for ALL of the many different genes that can cause HNPCC - 7(?). If not, you may have the gene and get a false negative which will lead you down the path of blissful ignorance until you get cancer and they say "Woops, we didn't test for that particular mutation; sorry." Worse yet, you get a positive test and your family freaks out. I have on cousin whose mom has the gene. When my cousin was tested, at age 30, she found she has the gene. She was ready to have a prophylactic hystorectemy. Fortunately, we talked down from that ledge and she has subsequently had not one, but two beautiful kids - oh, and did I mention she is cancer-free. Just because someone has the gene doesn't mean it will express itself.

I agree with Katie (usakat) abut insurance privacy. HIPPA (the Health Insurance Patient Protection Act) guarantees the privacy of your health records, but I know I still can't get health insurance or life insurance outside the military because of my cancer history. I am compelled to inform them of those conditions that are contained in my health record (vis-a-vis ostensibly protected under HIPPA) as a condition of them insuring me. What is to say that the question of "Do you presently or within the past 5 years had cancer?" can't be changed to read: "Do you currently have cancer or any known genetic syndromes which may predispose you to cancer?" It's an edit. Is it legal? Yep - you are VOLUNTARILY giving the information. It's the same as me asking a guy in a blue colored cigarette boat with 5 engines on it screaming north from Colombia toward the US does he have any cocaine on board. What if he says yes?... er... "Si"?

Anyway, I believe Katie captured my thoughts exactly. I have seen more harm than good come out of the whole genetic testing thing. It won't tell you anything you don't already know - you might get cancer at a young age; NEWSFLASH! and I have seen it cause a lot of undue guilt, remorse, and fear in family members. Better to save $5,000 (oh, your insurance company will pay for that piece of information? - you BET they will!) and focus on educating your family on the symptoms of colon cancer and the surveillance regime they should follow. Check out my pal Molly's website: http://www.colonclub.org

If you look for keyword "HNPCC testing" at the bottom of the page here, you will see a number of discussion threads where we have beat this horse totally to death. There are some counterpoints thta you may find interesting - I don't mean to imply that what Katie and I think is the be all and and all, but we've both been down the road and had lots of time to think about it and to see the unintended consequences.

Cheers

- SpongeBob

Moesimo's picture
Moesimo
Posts: 1080
Joined: Aug 2003

I had the testing done and thankfully it was negative. I was concerned for my 3 children.

Maureen

AuthorUnknown
Posts: 1560
Joined: May 2006

Hi,
I read your post. My husband had the test done. since his mother and sister had died of brain tumors and almost all aunts/uncles on Mom's side had cc, the onc thought it would be good to test. We were almost sure the test would show a gene problem, however, the test was negative.

Since our 30 yr old son had also had 8 polys(bad kind) removed in the last two years, the onc thinks that my husband does have a gene issue but just not a gene that has been identified for colon cancer. This did not change the treatment nor will it change the frequency of his and our son's colonoscopies.

We were trying to justify this cancer. I think that we were trying to come to terms with the problem and this test allowed us a method by which to deal with it.

We do not regret having the test done but will still believe there is a gene connection somewhere even thought the test did not confirm it.

I wish you well.

Betty

davidsonxx's picture
davidsonxx
Posts: 137
Joined: Mar 2007

Thank you all for your responses. You've brought up a lot of very good points. I think part of my desire for the test was to find an answer to why did I get cancer. As some of you have pointed out even a positive test result doesn't really answer that question. I really like the suggestion to act as if I had a positive test result. With my family history there is definitely a genetic link somewhere. Since I have no children I have decided not to be tested. I have talked with my siblings and all my neices and nephews will have early screening based on the family history. At this point there really isn't anything to be gained by testing and there is a lot to lose. I worked for a life and health insurance company for 18 years. I feel strongly that they will discriminate based on genetic testing if they can get away with it.

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