Anyone had genetic testing for HNPCC?

Reini

Our gentics councillor has suggested I have genetic testing for HNPCC, due to the tests on my tumour,Am scared of the insurance implications. Does anyone have any experience with this kind of genetic testing?

spongebob

Reini -

I have had the testing, and I have HNPCC. I did my testing as part of a National Institutes of Health/National Cancer Institute study. My sister, my mom, her siblings, and the children of those siblings who tested positive were also tested.

Now that I have had the test done and had a few years to think about it, I don't recommed people have it done. Here's why:

1. It ain't cheap! Mine and the test done for my family members didn't cost us anything since it was part of a study. Cost fo rthe test, however can run into the hundreds or even thousands of dollars.

2. What do you get for that investment? Will it cure you? Nope. Will it even help you? No, not really.

3. "But it will help me know if I need to get regular check-ups and pay closer attention to symptoms!" You know what? You should be doing that anyway. And what if the genetic test you take doesn't detect the particular genetic mutation you carry (there are 5-8 genetic mutations which cause HNPCC, if I recall correctly) and the test is "nagative" or if it is "inconclusive" - then do you throttle back and become more complacent with your surveillance regime? What if the test just missed the particular gene you carry?

4. And then we have what you discussed in your post: the unanticipated consequences. Specifically, the discovery of a "pre-existing condition" that may impact your ability to obtain health and life insurance. Certainly if you can get it, it won't garner you a discounted rate!

5. And then there is the human aspect. People who have the gene sometimes feel anger at the parent they "got" it from. Parents feel guilty at having "given" the gene to a child. Siblings feel guilty that a brother or sister got "it" and they didn't. And so on... Yes, that really does happen.

Ultimately, it's your decision. My point is what do you get for the investment? In my humble opinion - as one who has been there and had time to think about it in retrospect - the crop you reap from having the test doesn't offset the cost of the seed.

Best regards

- SpongeBob

CAMaura

Hi Reini,

I guess, after reading Mr. SquarePant's posting, I would ask a lot of questions of yourself and of the doctors. I think we all need to be sure of what a positive and negative might imply.

So a positive means that you are carrying the gene - but it may or may not express itself; it merely increases the liklihood. A negative doesn't always mean that one is negative? The testing is not extremely conclusive? Jeez, sounds as if the testing portion might need to be tightened a bit.

I spoke with a friend who is dead-set on having the test performed (in July). If she is positive, she is having a complete hysterectomy at age 31: BAM, no kids with a new husband and menopause comin' on strong. But she is scared and I certainly understand.

I thought of having the testing done and ordered the kit to bring to my doc. But I am really feeling iffy about a test which may not be accurate and is $1,950.00 - and I am dealing with an HMO for possible coverage.
I had thought that the testing would give me more info - that the results could make me a more dilligent survivor....worring less about unknowns and being more proactive in my care. Sometimes I think I would like to know if I carry the gene. But again, it comes down to whether the gene will express itself again.....
probability vs. hard facts.

I am glad that you have brought up the question. I hope that the different thoughts proposed help you - or at least fuel some discussion with your doctor.

Best of luck and keep in touch. I am curious about what showed in your tumorn that stirred the thoughts in your doc's head. Again, best wishes.

Cheers,
Maura

nanuk

see additional threads on this subject by word searching HNPCC on this site.. bud

spongebob

CAMaura said:

Hi Reini,

I guess, after reading Mr. SquarePant's posting, I would ask a lot of questions of yourself and of the doctors. I think we all need to be sure of what a positive and negative might imply.

So a positive means that you are carrying the gene - but it may or may not express itself; it merely increases the liklihood. A negative doesn't always mean that one is negative? The testing is not extremely conclusive? Jeez, sounds as if the testing portion might need to be tightened a bit.

I spoke with a friend who is dead-set on having the test performed (in July). If she is positive, she is having a complete hysterectomy at age 31: BAM, no kids with a new husband and menopause comin' on strong. But she is scared and I certainly understand.

I thought of having the testing done and ordered the kit to bring to my doc. But I am really feeling iffy about a test which may not be accurate and is $1,950.00 - and I am dealing with an HMO for possible coverage.
I had thought that the testing would give me more info - that the results could make me a more dilligent survivor....worring less about unknowns and being more proactive in my care. Sometimes I think I would like to know if I carry the gene. But again, it comes down to whether the gene will express itself again.....
probability vs. hard facts.

I am glad that you have brought up the question. I hope that the different thoughts proposed help you - or at least fuel some discussion with your doctor.

Best of luck and keep in touch. I am curious about what showed in your tumorn that stirred the thoughts in your doc's head. Again, best wishes.

Cheers,
Maura

"Mr. SquarePants"? Well, I guess that's better than "Sponge-BOY"...

;-)

Reini

CAMaura said:

Hi Reini,

I guess, after reading Mr. SquarePant's posting, I would ask a lot of questions of yourself and of the doctors. I think we all need to be sure of what a positive and negative might imply.

So a positive means that you are carrying the gene - but it may or may not express itself; it merely increases the liklihood. A negative doesn't always mean that one is negative? The testing is not extremely conclusive? Jeez, sounds as if the testing portion might need to be tightened a bit.

I spoke with a friend who is dead-set on having the test performed (in July). If she is positive, she is having a complete hysterectomy at age 31: BAM, no kids with a new husband and menopause comin' on strong. But she is scared and I certainly understand.

I thought of having the testing done and ordered the kit to bring to my doc. But I am really feeling iffy about a test which may not be accurate and is $1,950.00 - and I am dealing with an HMO for possible coverage.
I had thought that the testing would give me more info - that the results could make me a more dilligent survivor....worring less about unknowns and being more proactive in my care. Sometimes I think I would like to know if I carry the gene. But again, it comes down to whether the gene will express itself again.....
probability vs. hard facts.

I am glad that you have brought up the question. I hope that the different thoughts proposed help you - or at least fuel some discussion with your doctor.

Best of luck and keep in touch. I am curious about what showed in your tumorn that stirred the thoughts in your doc's head. Again, best wishes.

Cheers,
Maura

Hi maura,
my duodenal cancer tested positive for micosatellit e instability, a large percentage of hnpcc suffeerers have this it wasmissing the mlh1 gene mismatch repair gene and my age, 34 were the 2 major factors, not sure what to do

CAMaura

Reini said:

Hi maura,
my duodenal cancer tested positive for micosatellit e instability, a large percentage of hnpcc suffeerers have this it wasmissing the mlh1 gene mismatch repair gene and my age, 34 were the 2 major factors, not sure what to do

Reini,

Thanks for giving me a but more info. You know, if the genetic testing seems any more reliable, I might opt for it - giving one more info. Are there a few genetic testing procedures? Or is it just one blood test - one assay?

CAMaura

Reini said:

Hi maura,
my duodenal cancer tested positive for micosatellit e instability, a large percentage of hnpcc suffeerers have this it wasmissing the mlh1 gene mismatch repair gene and my age, 34 were the 2 major factors, not sure what to do

Hey Reini!

Do you have the chance to speak with a few more docs? Maybe just having another opinion, or seeking our more info trhough another doc might be of help. Perhaps a few other hands in the pot could look in other data bases or just be another sounding board for you. At least you woiuldn't feel left out in the cold.

Keep in touch,
Maura

neeliec

spongebob said:

Reini -

I have had the testing, and I have HNPCC. I did my testing as part of a National Institutes of Health/National Cancer Institute study. My sister, my mom, her siblings, and the children of those siblings who tested positive were also tested.

Now that I have had the test done and had a few years to think about it, I don't recommed people have it done. Here's why:

1. It ain't cheap! Mine and the test done for my family members didn't cost us anything since it was part of a study. Cost fo rthe test, however can run into the hundreds or even thousands of dollars.

2. What do you get for that investment? Will it cure you? Nope. Will it even help you? No, not really.

3. "But it will help me know if I need to get regular check-ups and pay closer attention to symptoms!" You know what? You should be doing that anyway. And what if the genetic test you take doesn't detect the particular genetic mutation you carry (there are 5-8 genetic mutations which cause HNPCC, if I recall correctly) and the test is "nagative" or if it is "inconclusive" - then do you throttle back and become more complacent with your surveillance regime? What if the test just missed the particular gene you carry?

4. And then we have what you discussed in your post: the unanticipated consequences. Specifically, the discovery of a "pre-existing condition" that may impact your ability to obtain health and life insurance. Certainly if you can get it, it won't garner you a discounted rate!

5. And then there is the human aspect. People who have the gene sometimes feel anger at the parent they "got" it from. Parents feel guilty at having "given" the gene to a child. Siblings feel guilty that a brother or sister got "it" and they didn't. And so on... Yes, that really does happen.

Ultimately, it's your decision. My point is what do you get for the investment? In my humble opinion - as one who has been there and had time to think about it in retrospect - the crop you reap from having the test doesn't offset the cost of the seed.

Best regards

- SpongeBob

Thanks for the posting-- ditto for me!!! I started the test through MD Anderson study-- every sibling in my mom's side was found with CA-- HNPCC and LYNCH syndrome. We had to pay to get the results-- the test was free-- I never paid-- figured "I've had 3 CA-- it does not take a brain surgeon to figure it out"-- I do not want any more insurance issues. My older children, 20 and above, have already started regular checkups-- colonoscopies-- etc.