Genetic counseling...Why?

[Heart Sutra]

I'll be honest. I'm a skeptic. This means that I have an open mind, but it's not so open that my brains fall out. Genetic counseling raises some questions for me.

It seems that genetic counseling might not be suitable for Sue. Her children (all adults) may benefit from the information gathered if they were tested, but nothing learned from this test will affect Sue's treatment path.
She has no family history of cancer of any kind (she's the only one known) and we already know she is at some degree of risk for recurrance, simply by default of having cancer to begin with. Recurrance is not predicted by genetic testing as far as I've learned.

So, what benefit does genetic counseling do for her? I could certainly see testing if future plans included children, or if you were not yet diagnosed for cancer and were looking for information regarding your chances of being diagnosed in the future, though acting on that information might be premature.
There are studies that suggest (one included below by the U.S. Dept. of Health and Human Services)that having BRCA1 and BRCA2 genes do NOT necessarily translate into higher chances of developing breast cancerif there is no family history of that disease. That would be the case with Sue, though since cancer is already here, what else is there to know?

It seems that cancer is an illness that produces a lot of fringe industry, and quite honestly quite a bit of it seems like outright quackery. Genetic counseling may be valuable in some instances, but in others it seems completely unnecessary and simply over-prescribed out of hand.

All this, and she has an appointment for the test anyway, it won't harm anything, and we will not pay for it. But it seems a waste to have insurance pay for something which inevitably has no affect on treatment, or is of use, for Sue.
I just wanted to hear some of your input and thoughts.

Here's an interesting link
http://www.ahrq.gov/clinic/uspstf/uspsbrgen.htm

[AlaskaAngel]

I ended up going ahead with genetic testing.

Originally I was ambivalent about it. It is pretty unusual to be both HER2 and BRCA so I didn't want to waste insurance resources or my own portion. And my older sister and I both already had bc, and her children are and will be the only descendants, so she needed to have the freedom to decide whether she wanted to be tested in their behalf.

It is a very expensive test in the US, although as I understand it, it is free or very low cost in Europe due to differences in patenting law.

I am participating in two genetic clinical trials, neither of which required genetic testing but offered genetic counseling free as part of the trials. I turned down testing originally.

I decided to go ahead with it more because if I turned out positive I felt I would actually tend to make different choices in terms of pursuing treatment options -- even though I knew already as someone who has had bc the risks for more bc are there. (In addition, in my case an aunt died of ovarian cancer.) I also knew for sure that there was zero chance of losing my insurance coverage or employment based on test results, and that is a very important consideration.

Hope all of that helps.

AlaskaAngel

[KellyA]

I also had genetic counseling, for two reasons: 1. to make sure that if I had passed something on to my children they would know about it and be vigilent with thier own health care. 2. If I was positive, I would have definitely made different choices in my treatment. The rates are higher for certain types of cancer if you test positive-

TYPE OF CANCER BRCA1 RISK BRCA2 RISK GENERAL POPULATION

Breast 56-87% 56-87% 12%
Ovarian 28-44% 27% less than 2%
Second primary breast 48-64% 27% 2-11%
Ovarian after breast 16% 16% Not increased
Male breast Increased 6% .05%
Prostate May be increased 20% 8-15%
Pancreatic Not increased 1-2% 1 in 10,000

I was negative, and had to wrestle with the insurance company to pay, but am glad I did it. Had I tested positive, I would have had my ovaries out. My dear friend had ovarian and tested positive, and she had a prophylatic double mast. Don't know if this helps or not-

Love, Kelly

[KellyA]

My chart messed up- sorry!

[Heart Sutra]

http://www.ahrq.gov/clinic/uspstf/uspsbrgen.htm

Try this link
Thanks, I wonder about the stats.... I think maybe they did get a little messed up?
Do you have a source for them?

Strange how your stats show no increase in risk for ovarian after breast, when the oncology salesman said his primary concern for getting the test was to eliminate the need for removal of ovaries.

Not unusual to get conflicting information in this area though.

[tousled1]

I had the genetic counseling/testing done and tested negative. My only reason for having the test was because there is a very strong history of cancer (breast and ovarian) in my family on both sides. Also I have 2 daughters and I wanted to make sure I did everything I could for them. Even with me testing negative for BRCA1 and 2 my daughters are automatically at a higher risk of brest cancer simply because I have it. I was fortunate that my insurance covered the cost. If I did not have my daughters, I would not have had the testing. I don't think my treatment would have been different even if I had tested positive.

[KellyA]

Those stats came from a book that I was given when I went for counseling. My counseling was at The Center for Cancer Genetis at the Curtis and Elizabeth Anderson Institute here in Savannah. I also met with a oncologist that deals specifically with womens gynecologic cancers. In addition to the chart (didn't really look like one though), there is a section on Preventative Surgery. In it-

"Bilateral mastectomy can reduce a second primary breast cancer by 90%."

and

"Bilateral salpingo-oophorectomy (removal of the ovaries and fallopian tubes) can reduce the risk of ovarian cancer by 96% and reduce the risk of breast cancer by 68% in women with BRCA mutations."

Also, there is something called chemoprevention, where Tamoxifen and oral contriceptives are shown to reduce the risk in women with BRCA mutations

Have more if you want it-

Love, Kelly

[Becky]

Dear Kevin and Sue


I also had the testing even though I knew that being Her2 positive rarely results in being BRCA 1 or 2 positive. Like Kate, I did it because ovarian cancer runs on my dad's side and bc on my mom's. But, I was negative as was expected. One of my sisters really wanted me to get tested and once I was, she called all the time on whether my results came in.

It doesn't affect the bc treatment but results could affect future preventative surgical treatment (ie: oophorectomy and masectomy of the unaffected side).

I also have 3 (currently) teenage daughters so I wanted to make sure there was nothing going on that was "testable".

Have a Happy New Year. I will be thinking of you on the 2nd.

[Heart Sutra]

Thanks for everyone so far. You are all the bestest


Not trying to be a wise guy, but...

wouldn't removal of non-cancerous ovaries result in a 100% reduction in ovarian cancer, since there are no ovaries to become cancerous in the first place?
Same with bi-lateral mastectomy reducing primary breast cancer...

(really not being sarcastic here...just counter-intuitive wording)

[MichelleMoon]

Much of this is repetitive, but I was interested in my BRCA status to help determine if/when I should have my ovaries removed. Breast cancer sucks, but the poor detection methods for ovarian really scared me! I was tested after my breast cancer diagnosis, so knowing my BRCA status didn't really help in that regard. I seemed to have also bucked the stats in having a BRCA mutation and (at least in my recurrence) HER2+.

As for the stats regarding oopherectomy and chance of ovarian...my aunt had a complete hysterectomy in her thirties and developed ovarian cancer 20 years later. Yep, despite having no ovaries. Her onc thinks there may have been tissue left from endometriosis (?).

Hope that helps. Good luck with your decisions.

[AlaskaAngel]

The facingourrisk.org site is helpful in providing info to clear up confusion about ovarian/breast cancer connections.

AlaskaAngel

[Becky]

Dear Kevin and Sue


The reason that an oophorectomy reduces ovarian cancer risk to 96% - 98% is that some ovarian cells are usually left behind in the abdominal cavity. The cancer is called something different than just plain ovarian but the cells the cancer stems from are ovarian cells. It is extremely rare since ovarian cancer in itself is rare (and then you cut the risk by removing the ovaries). Apparently, the risk is further reduced by making sure the tubes are also removed as these cells are ovarian like and there is "cross talk" between cancer/precancer receptors on the tubes that can make the ovaries cancerous (thus ovarian taking over - this is a weird article I read quite some time ago).

For bc - it is extremely difficult to remove 100% of active breast tissue with masectomy (some duct tissue is left behind), therefore, cancer can occur even if a healthy breast is removed.

I hope this helps. It is nothing to worry about or contemplate as it is rare to get cancer in what remains.

[Heart Sutra]

that makes perfect sense. Should have realized that some cells can be left behind, not thinking as clearly tonight. In a funny (!) mood today, and probably sound argumentative. Apologies if anyone offended or taken back.

Simply getting worn down by the constant shilling being done by, let's call it "The Medical Machine."
A thousand thanks.

[Soccermom]

Dear Kevin and Sue,
I have had the privilege of being an outreach coordinator for FORCE (www.facingourrisk.org) for the last 5 years. Please go the site and educate yourself more thoroughly before making any judgements about genetic testing and counseling. I have also manned a helpline (trained by the U of Penn) to speak w those concerned about their risk. I have seen the benefits of testing firsthand ,both personally (tested negative...twice,and am ironically Her2+++)and on others.
Primary peritoneal cancer ,which is treated as an ovarian cancer, can occur even after the ovaries have been removed by BSO (bilateral salpingo oophrectomy). There is a tiny portion of the fallopian tubes that can remain and it is believed that this can be where the cells that can cause the PPC come from. The risk for BRCA carriers is substantially increased over that of the general public. Furthermore ,there are statistics that show that BRCA carriers born prior to 1940 fewer were diagnosed with cancer than those born after 1940 ( perhaps more PESTICIDES,CARCINOGENS now than in the 40s!?) I believe the term that is used in the medical community to describe the increase in cancer diagnosis within thiscommunity is called "anticipation". We are seeing both men and women (yes ,the mutation can be passed down by the fathers side as well) who have no "KNOWN" family history of cancer,testing positive for BRCA 1-2.
I have been a bit wordy here..but it is important that you understand that this (BRCA testing/counseling) is not some fad..or quackery....it IS lifesaving.
FORCE was referred to as the "premier" website for those at high risk by CURE magazine just last year and some of the most respected members of the medical community make up the advisory Board. FORCE is housed at the MOFFITT CANCER CENTER in Tampa,Fla.


Warmly,Marcia

[Heart Sutra]

Hi Marcia,
You call that wordy?

I never said that genetic counseling was a fad, or was quackery. What I did say, and strongly stand by, is that there are more than enough fads and quack recommendations found when researching cancer and its treatments.

I went to the site you linked at the top of your post and read the descriptions as to the how's and why's of genetic testing and to be honest, learned nothing much new. It seems like a well intentioned organization, and congratulations on your work there. What was it that you hoped would be utterly convincing?

Sue is going for the test, as insurance does cover it. When we questioned the counselor about what the test results would change for her treatment plan, we were told it would affect nothing, that the tests are not much of a predictor of recurrance, and without family history aren't totally reliable as predictors of other cancers (validating what I'd already learned by that point) ,but that "...People just like to know..." When asked why they like to know, the response was "... Sometimes they have ovaries removed, or another mastectomy..."
When I pointed out that she had just told me that testing positive for these genetic markers is not a very accurate way to predict either recurrance or "new" cancer, and it follows that to act in a preventative way based on this test is not entirely warranted, she repeated several times that "It's a good idea" to have the test.
Believe it or not, I asked her why
and the reason she gave?...
"Because it is."

Well, hard to argue (or even account for) that logic. I think my initial concerns are valid based on that conversation. I think it interesting that facilities who perform these tests always cite "substantial increase in risk" for BRCA carriers, but independant studies (as the one I cited earlier) do not find these increased risks when there is no family history. Since insurance is going to pay the ride, and there is no actual harm done, there will be something to learn from this in the end. Everything has some value, not the least of which is an education.

We'll let you know what we hear. And yes... even though we are far from convinced, we still hope we test negative. Funny, right? I easily understand decisions for, and against, prophylactic measures, and judge no one else's decisions but our own. We ask the same in return.

Thank you for your help
Thank you for being here.

[Soccermom]

Dear Kevin,
My intention was not to convince you of anything. I realize that you are both in the throes of this nightmare called CANCER, and overwhemed at times.I SINCERELY only want you to make INFORMED decisions regarding whether to have counseling/testing. Unfortunately I have seen firsthand how much misinformation is out there in cyberspace....
Forgive me if my tone seemed judgemental. that was never my intent.
I wish you both times of serenity and peace during these initial months.

Marcia

[Heart Sutra]

Thank you Marcia.

It was certainly me who sounds argumentative in the above thread.
This, too, is an artifact of textual conversation. Sometimes the nuance of communication is lost despite efforts to avoid it. I admit to feeling defensive on this topic, and that is becoming almost normal when dealing with this disease in general.

There is a lot of fear based information out there. Cancer is fertile ground for it. The majority of the faulty info. is easily discredited, and the rest takes some understanding of how appeals to reason in absence of legitimate supporting evidence are presented. We've learned not to accept or discount out of hand. We're learning all the time.

I am grateful for the link you gave us and for the insight you have. I don't feel like I know it all, and more than welcome the opportunity to learn something new. I agree with your statement that in some cases this testing can be potentially life saving.

Thank you for being here

[julierene]

I have tested positive for p53 mutation. Here is something I think is worth mentioning.

I came from a family with many cancers. In 1991 or 1992 they told me there was nothing wrong with my p53 gene. Later in 2004, I found out that there was - and that I had passed it on to all 3 of my children.

The reasons for testing them were 1) I hoped I could not have to worry about the ones that I hoped would test negative 2) So I could be vigilant about their care since I have a child with cancer - the risk of my other 2 was very high. So that being said, I found out that in 1991, they had only mapped out through Exon 9 of the p53 gene. From their perspective, 99% of all cancers "they thought" were in Exon 1-9. I learned this later from research. In reality, they have changed the number to 90%. My luck - I had a substitution at Exon 10.

Back then, they didn't know what was going on with our family cancer history. They tested the p53 and a few others and said "Nope, everything looks fine, but we still think genes are playing a role." Since I was 16 at the time, I didn't remember all those details. I just remembered that everything was negative. So even if you get negative results, it doesn't mean squat. The only way the testing has value is if it's positive. IF they find something, you can watch more aggressively and have a reason to do so. It's a very hard decision though - and it's also very hard to live with. So make sure you are ready for what ever decision you go with.

Now they are saying breast cancer could be caused from a virus - like HPV and cervical cancer. Back when those commercials came out, I made mention of it in these forums that soon I felt that they would be saying many other cancers were to follow. Viruses cause genetic mutations. Why couldn't they be mutations that make us susceptible to cancer? Viruses attack our immune systems. Our immune systems are what is responsible for cleaning up cancerous cells. One little attack could do it. But who wants to live with that kind of knowledge?

The only thing I can say is "WE NEED TO GET OUR GENES BACK IN ORDER!!! GENETIC RESEARCH IS OUR SALVATION!" There is no cure for Stage 4. The only cure I could possibly fathom is having my genes altered back to what they should be.

I hope you all enjoy the fun with this one. I imagine this might irritate all the "Diet is our answer" people here.

[Heart Sutra]

Thanks Julierene,

We read your post and our heart goes out to you. Thank you for telling us your experience, we wish it were an easier one for you.

I agree with you that genetic research is eventually going to provide some much needed answers. We are fortunate that we live in a time when that area of research is ever growing. When the road-blocks currently limiting genetic research are removed, there will no doubt be more results. Eventually this will occur, but this idle time comes at a price.

I read in your profile about your onc. refusing herceptin at first, and Taxatere as well. Those few words speak so many volumes. Sue and I both feel anger and exasperation when we hear stories like that. It helps us become more vigilant, more of self-advocates. We realize that things have changed in the last few years regarding medicines given, and that this change did not come about without cause.

As far as diet being the answer, I'm sure diet has some affect and certainly there are better or worse diets just in a general sense of health. As far as it being THE answer, well, that would be just about the best news ever.

The latest info. about viruses being linked to more cancers was inevitable in hindsight, you were right to think of the connection. This is interesting research, and I've looked into none of it myself, so I'm totally out of school here.

Stay in touch.
Thank you for being here

[Linda]

Hi Kevin and Sue:
Here's another pov on this -- this is just from my experience. Genetic counseling and BRCA blood testing are 2 different things. First, you talk to a genetics counselor, who will determine your risk, which depends on your family history (other cancer cases in the family, especially breast and ovarian) and ethnicity (European Jews and a few other groups have higher BRCA rates). Insurance coverage and your decision to test may depend on what the genetic counselor estimates. From what I recall, they recommended testing if you had 10% (not sure about this figure) or higher chance of carrying the gene (I had a 10% chance, was tested, was negative.) If you have no other family members with BRCA type cancers, etc, the risk might be so low that testing might not be covered by insurance, or recommended. So -- you might want to talk to a genetics counselor, even if you don't end up testing.
As the other women said, it's unusual for her+ to be also be BRCA pos (but not unheard of.)
Best, Linda