Topic: I've been told I need Genetic Counselling, Scared!

Pearl - this sucks!!  Nothing like feeling horrible and having someone not answer your questions and then there is that waiting game!!!

What about calling your oncologist and speaking with him/her - speak to a nurse to push the phone call?  Who usually sends you for scans?  Do you have a regular physician that you could call for info?  Seems like EVERYONE that I've ever seen gets copies of my tests.

I had the BRAC test (whatever the letters are) way back in summer 06 and the results were back in a couple weeks; my oncologist called me with the results and that was it.................. I believe the counselor just goes over your family history etc to see if the test is warranted and then over the results and any recommendations.  Not sure if it's different where you are.

I'm sure someone more knowledgeable will be along soon, but I would be on the phone being insistent!!

Big hugs!  Let us know what's going on - you KNOW we're all in your corner!!

Dawn

Hi Pearl,

Was there a specific test which you were waiting the result on which your radiation oncologist might have told you at your visit?

Has there been discussion of future use of 5 FU so the enzyme test ordered and done?  Or was this already given and you are curious about the result.

Genetic testing: I don't know why he brought this up now at this visit. I mean, we all worry our breast cancers may be passed to our kids, and just this week there was a new gene variant found on chromosome 5 associated with ER+ cancer. So it's always evolving. With triple negative, or basal breast cancers, it's BRCA-1 that is found the majority of the time, IF you carry it. I thought you had your ovaries out, but if not, this might be discussed.

If I might ask, where are you know on the Herceptin infusions? Are you getting your care between two oncology centers now?

I know you're very tired, so please don't push to respond.
Just wanted to let you know I'm thinking of you. Glad you like your new apartment, Pearl.

Tender 

I'm sorry. I didn't mean herceptin, but chemotherapy infusions, but that may all be decided after your scans. I am glad you are hooked into the system better (blessings to your Angeldoctor, may we all have one) and that's probably why your being seen every two weeks, for continuity reasons and focus on your back and pain relief.

It seems things are a bit better for you now, and I'm truly glad for this. You had quite a time there.

I do forget to get my reports too: it's almost like you feel strange asking for them but you know you should for a number of reasons.

Hope you'll post again soon.

Tender 

Snowy~

I am sorry for your frustrations...I was asked to have a BRCA testing as well, so if they asked me I surprised this wasn't brought up initially with you!?

Excuse me if I am prodding..but why did you have a mamo a year and a half ago ?  Shouldn't you be getting one at least every six months !???

I am sure you were trying to read into him Snowy, and sometimes you may be getting ahead of yourself, at least he sounds pro-active.  Whats with the not getting the path report from surgery ( I didn't either.)  I had to ask for my medical records.  Whats with that ?!

ITS EVERYTHING TO DO WITH US thats why!...they were even wondering why! HELLO!

So, it may not be what you are reading into.  You have a plan and you will get on the right path again!

A breast cancer (BRCA) gene test is a blood test to check for specific changes (mutations) in genes that help control normal cell growth. Finding changes in these genes, called BRCA1 and BRCA2, can help determine your chance of developing breast cancer and ovarian cancer. A BRCA gene test does not test for cancer itself. This test is only done for people with a strong family history of breast cancer or ovarian cancer, and sometimes for those who already have one of these diseases. Genetic counseling before and after a BRCA test is very important to help you understand the benefits, risks, and possible outcomes of the test.

A woman's risk of breast or ovarian cancer is higher if she has BRCA1 or BRCA2 gene changes. Breast cancer is extremely rare in men but BRCA2 gene changes have been linked to male breast cancer and possibly prostate cancer. The risk of some other cancers, including pancreatic and colon cancer, may also be higher.¹ The gene changes can be inherited from either your mother's or father's side of the family.

Certain people have a higher chance of inheriting BRCA1 or BRCA2 gene changes.

• Jewish women are more likely to be BRCA gene carriers. Some experts recommend gene tests for women who are Ashkenazi Jews (Jews whose ancestors came from Eastern Europe) if they have one or both of the following:²
  • Any first-degree relative with breast or ovarian cancer. First-degree relatives are parents, sisters and brothers, and children.
  • Two second-degree relatives on the same side of the family with breast or ovarian cancer. Second-degree relatives are aunts and uncles, nieces and nephews, and grandparents.
• If you are not Jewish, some experts recommend a gene test if you have one or more of the following:²
  • Two first-degree relatives with breast cancer, one of whom was diagnosed before age 50
  • Three or more first- or second-degree relatives with breast cancer, diagnosed at any age
  • Both breast and ovarian cancer in the family
  • A first-degree relative with cancer in both breasts
  • Two or more relatives with ovarian cancer
  • One relative with both breast and ovarian cancer
  • A male relative with breast cancer

Much LUV ~

Snowy ~

Like otter said...I just got my paper work yesterday to fill out prior.  Perhaps your Dr. is covering all necessary measures.  Don't think this is just in your case.  ((gentle hugs)) I pray for your comfort and get plenty of rest...try not to stress yourself too much.

Much LUV

Pearl,

Did you doctor say where you will be going for your genetics test?  Not all hospitals do genetic counselling and testing.  I had my treatment at PMH but was sent to Mt. Sinai for genetic testing.  Before my appointment, they sent me a very long questionnaire to fill out, detailing my family health history.  When I went for the appointment, the counsellor had reviewed the information I'd provided, explained that while I was relatively low risk to be carrying the BRCA genetic mutation, there was enough risk to warrant the test.  She then explained what the test results would mean for me and for family members, if it was negative and if it was positive.  Then she left it to me to decide if I wanted to go ahead.  I did, so I had the blood test on the spot.

In Canada, cost is not an issue - if you are sent for the genetic testing by your doctor, then it will be paid for by OHIP.  The issue is the amount of time it takes to get the results.  There's a huge backlog on testing so the results can take up to 4 months, or even longer.  I didn't have a problem with this, since I'd already had my mastectomy and had no intention of jumping into action if the results were positive (i.e. have a prophylactic mastectomy of my other breast and have an OOPH).  But if you do want to get the results faster, for a fee, you can have your test fast-tracked to Myriad in ths States.  If I recall, the cost at the time I had my test (about 2 years ago) was $250.  If you do this, you'll get your results within about 30 days.

Despite having some risk from both sides of my family, thankfully my results were negative.  I suspect that your doctor suggested genetic counselling as a "just in case" measure because you met a couple of the criteria (see LUVmy2girlZ's note).  Most BC is not genetic, but for those who do have genetic BC, the implications can be significant.  And there is a risk that siblings and children might also be affected, which could be important to know.   

I'm so sorry you are going through this, Pearl. It makes my heart break just reading what you have gone through.

I think board certified genetic counselors are trained to handle the uncertainties of a truncated family tree.


Finding information from families can be really a mind trip. I had a horrid time trying to find out when my grandmother got bc. She had only sons and no daughters, so the sons weren't interested at all in that info.


I got counseling but opted not to get tested. I found it very supportive. I thought they were very thorough because they said there was a possibility I had a mutation in a PTEN gene where there have only been about 200 cases worldwide ever diagnosed! (I didn't opt to get tested for that either.)


This study says that families with a truncated family tree need to incorporate this uncertainty in the decision. http://www.ncbi.nlm.nih.gov/pubmed/17579227?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

http://www.guideline.gov/summary/summary.aspx?doc_id=7784&nbr=004489&string=BRCA+AND+testing


Please know we are all thinking of you and hoping for the best in this very stressful time!

Because my brother has had thryoid cancer and my mum & I have had BC, I was told that I was at risk for PTEN too.  It's very rare, and as I looked at the details of PTEN, I concluded that it's unlikely that I had it, and even if I did, having already been diagnosed with BC, there were no other significant risks that I faced. So I decided to pass on further testing.

Here's some info on it:

http://ghr.nlm.nih.gov/gene=pten

http://jco.ascopubs.org/cgi/content/abstract/22/14/2954

I am currently waiting for genetic results for the p53 gene. I had a daughter that died from cancer (rhabdomyosarcoma) when she was 16 and it is known to be caused by mutations of this gene. My mother and I both have bc. I live just outside of Toronto and am being tested by Sick Children's Hosp through Sunnybrook Cancer Centre. They have told me the results will take 4-6 weeks.

I don't think the results will change things too much for me, but of course I hope they are negative for my sons' sake. They can chose to be tested if they want should the results be positive.

My main reason for being tested was to contribute to the ever increasing gene studies being done in relation to all cancers. I really believe that at least the majority, if not all, cancer is related to some problem with some gene. It is just that presently we have only identified a few of them. In years to come I expect that treatment will be tailored to the specific gene that is responsible.