Family History & Genetic Testing

my3heroes

Hi everyone...

I'm basically posting to hopefully get a clearer picture on information that has been given to me and also hear if anyone has had a similiar situation, any advice helps right!?

I'm a 25 year old female and come from a family with a STRONG maternal history of Breast Cancer.   A little summary on that probably helps.  My Great Aunt was diagnosed with BC in her 50's and fought the battle and won, thankfully!  I was a young baby when this happened so I don't have any more information other than she had the disease.  My mother (1 of 5 sisters) youngest sister was originally diagnosed at age 38 and was rediagnosed at age 44 with Stage IV Mets to the Spine, Lungs and Brain.  She is still with us and is one of the bravest fighters I know.  My mother at age 50 was diagnosed 2 months after my aunt was diagnosed for the second time.  My mother's diagnosis was a Stage 1 DCIS Triple Negative BC.  A month after that diagnosis, my family found out that another sister (my aunt, age 52) was given the news that she too had BC and so there we sat starting out 2008 with THREE sisters (my mom and 2 aunts) all with BC.  A sidenote as well, my maternal grandmother, died from Ovarian Cancer.  So overall, Cancer dominates my maternal medical history. 

As far as Genetic testing goes, my mother and her sister (52) have been genetically tested, my aunt with the Stage IV Mets has not been tested (for reasons unknown to me).  Both my mother and aunt have come back with BRCA1 negative, but BRCA2 shows a mutation that can not rule out a negative or positive on that gene.  It is described to us as there is a mutation there that does not fit the standard definition as being a BRCA2 positive result, but it is a mutation they have seen in other individuals and one that is being studied with no confirmations currently. 

 My main concern, and reason for posting this here, is because I recently went to an appointment with my PCP to discuss my desire to start receiving mammograms and/or Breast MRI's due to my family history for BC.  She informed me that she would not order either of those tests until I was genetically tested.  I was a bit confused because 1.) I felt that my family history was strong enough to see that starting the annual tests would be necessary and 2.) can my PCP really force me to be genetically tested?  Does anyone think I should call my insurance company and explain the situation?  Also, can genetic testing and having those results affect any type of insurance coverage in the future?  Any information anyone can provide, even if it's just a similar situation your in would be great!  Thank you so so much!

lvtwoqlt

I too have a strong maternal history of breast/ovarian cancer but not quite as prevlant as yours. My aunt was dx with ovarian cancer in 1978 at age 37 and lost the battle 7 months later. My mom was dx in 2001 at age 60 with IDC, had mast, chemo and rads and doing great. She had the genetic testing done and was brca negative. I was dx at age 47 with DCIS in 2007 after two prior dx of ADH (pre-cancer) once in each breast over an 18 month period. Your PCP cannot force you to get genetically tested as far as I know before starting mammo/mri for younger patients. You can check out the facing your risk web site for more information on the risk of younger person.

Sheila

leaf

These are the  2007 Amer Ca Society guidelines for MRI screening (not testing)

Recommend Annual MRI Screening (Based on Evidence

BRCA mutation

First-degree relative of BRCA carrier, but untested

Lifetime risk ~20–25% or greater, as defined by BRCAPRO or other models that are largely dependent on family history

Recommend Annual MRI Screening (Based on Expert Consensus Opinion

Radiation to chest between age 10 and 30 years<this is therapeutic radiation>

Li-Fraumeni syndrome and first-degree relatives

Cowden and Bannayan-Riley-Ruvalcaba syndromes and first-degree relatives
http://caonline.amcancersoc.org/cgi/content/full/57/2/75

If your lifetime risk is ~20-25% or greater by family history models, then by getting an MRI you would be following the ACS guidelines.

 As Sheila wrote, you may get more info from the http://www.facingourrisk.org/, and you are NOT required to do genetic testing.  I imagine that insurance companies COULD refuse to cover MRIs unless you reveal the info to them, though.

I thought there was a law that would go into effect ?June 2009 that federally they could not discriminate against mutation carries.  (I may be wrong about this.)-

This is what the NCI says - there are other breast cancer models besides the Gail model.

"Models for Prediction of Breast Cancer Risk

Models to predict an individual’s lifetime risk for developing breast cancer are available. In addition, models exist to predict an individual’s likelihood of having a BRCA1 or BRCA2 mutation. For further information on these models refer to the Models for Prediction of the Likelihood of a BRCA1 or BRCA2 Mutation section of this summary. Not all models can be appropriately applied for all patients. Each model is appropriate only when the patient’s characteristics and family history are similar to the study population on which the model was based. The table, Characteristics of the Gail and Claus Models, summarizes the salient aspects of the risk assessment models and is designed to aid in choosing the one that best applies to a particular individual."

"The Tyrer-Cuzick model incorporates both genetic and non-genetic factors.[87] A three generation pedigree is used to estimate the likelihood that an individual carries either a BRCA1/BRCA2 mutation or a hypothetical low penetrance gene. In addition, the model incorporates personal risk factors such as parity, body mass index, height, and age at menarche, menopause and first live birth. Both genetic and nongenetic factors are combined to develop a risk estimate. Although powerful, the model at the current time is less accessible to primary care providers than the Gail and Claus models. The BOADICEA model examines family history to estimate breast cancer risk, and also incorporates both BRCA1/2 and non-BRCA1/2 genetic risk factors.[88]"http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page2

You would almost certainly need a genetic counselor to calculate your risk.

Deirdre1

Maybe she meant genetic counseling rather than genetic testing- because when you go through genetic counseling they put all the information you have described above and "map" it for the medical community (as well as the patient) for their support in their decisions.   Within my genetic map was a description of all the tests I should have and a breast MRI and BRCA testing were  "highly recommended".    So your  PCP may just want the recommendations of the genetic counselor to support her writing a script for a mammo or MRI.  They don't force you to do anything they recommend they just show your stats and make suggestions.  I opted to have the BRCA 1/2 testing and breast MRI...  If I had decided not to have the tests I just wouldn't have given my pcp a copy...  You are young and I would keep the results close to my person because I wouldn't want it to effect your insurance in the future - it's not suppose to but I have advised my daughter and neices to keep their results to themself.  In our family the older family has been tested giving some answers to the younger group...  but yes it is suppose to be protected information in 2009 as Leaf described.

Honestly, though if my pcp said anything like that without including my own worry factor into it - frankly I'd get a new pcp because that pcp is not up on the newest approach to bc.  Good luck and no matter which test you get I hope everything is fine for you!  Best

leaf

Deirdre is right. 

I got genetically counseled by a board certified genetics counselor, but opted not to get genetically tested. At my place, they required you to be genetically counseled before being tested. (The counselor should not be pressuring you one way or another.)  The genetics counselors are up to the latest on the laws too.

The genetics counselor estimated my risk for having a BRCA mutation, my risk of breast cancer, and the possibility I may have another mutation (not BRCA). (I have LCIS and nothing worse.)

Wilson4891

Hi,

I just went through genetic counseling and testing. I am high risk and wanted answers for my self and my mammogram came back abnormal.  I wanted to know before I had bx because I might have chosen another tx. I also wanted to know for my daughters sake.

First of all I was informed by my genetic counselor that it should never been written on any medical chart or any chart any where.  Not that any insurance or job is being biased at this point but they could be. Even if the results of the genetic testing were subpeonad that they would not be able to get the results from her or the lab. There is only one lab in the US that is allowed to do the genetic testing.   I see a breast cancer center and have had to see a surgeon and oncologist since the test. Both have advised that I should get the counseling. I told them I have. They said that I did not have to tell them and if they did they would never write it on a chart or any where else.  So I know your PCP can not require you to have this test.  

Sounds like you meet enough of the high risk criteria that you shouldn't even have to have the genetic testing. I am planned to have MRIs and mammograms every six months now. Started Tamoxifen as a preventative step.

Try talking with your OB/GYN. That is who started ordering my mammograms when I was in my late 20s due to my high risk.   

Anonymous

my3heroes----no doctor can force you to be tested, but with your strong family history of bc and oc, it's probably a good idea. My insurance recently said they won't cover it for me since I don't fit their criteria (although my oncologist feels it should be covered due to my LCIS and family history), but I would think yours probably would--check with them first, as it is expensive.

Anne

Emily2008

my3heroes, you asked about mammos and/or MRI.  It's absurd of your PCP to deny you a mammo due to not having recv'd genetic testing.  Plenty of women with strong family history receive mammos at young ages.  An MRI is different, as it is still considered "experimental", and therefore not routinely covered by ins. carriers unless there is a dx of cancer or BRCA mutations.  Perhaps your doc assumed the MRI would be denied w/o the genetic test and that's why she wouldn't refer you for one.

I was dx at age 35 with IDC and had no family history.  BTW, an MRI was what got me the biopsy since the mammo showed nothing.  No doctor felt it was necessary for me to get gene testing done given my unremarkable history.  I had my doubts though, and went through extensive counseling and the testing.  Lo and behold, I'm BRCA 2 pos.  

As of May 2009, the federal guidelines will be in place to make it illegal for insurance companies and employers to discriminate based upon genetic testing.  This is a tremendous victory for those of us genetic mutants   Most states had already passed those guidelines, but May will make it country-wide.  

So, get the mammo, and find a new PCP who is well-versed in bc and can spot a risk like you present.  Also find out about your ins. policy on MRIs.  They're pricey (over 3 K), but potentially a lifesaver, like in my case.  Also, really consider the genetic testing for yourself.  I'm very glad I found out.  Now I'm doing whatever I can to minimize the risk that I'll ever face bc again.

Deirdre1

Emily2008 - Your so right about MRI's potential being lifesavers!  Four bs as well as a university (with a good cancer center) stated that with a strong family history MRI are becomming "standard".  They are not experimental anymore, there are just not that many breast MRI's around and the tech's have to be trained as well as the radiologists.. yes there is a great deal of "stuff" floating on an MRI, but my mammo, digital mammo or sonnagram were all negative -  the radiologist at our local breast MRI told me he thought what he was looking at was DCIS and indeed the final outcome was DCIS.  MRI's are discouraged for two reasons, one cost - so we know that song we have to fight for them.. and two many, many more women are deciding on mastectomy's because of them.. So medicine is starting to rethink how MRI's will be used, but there is no mistake that they are now part of good medicine when it comes to breast cancer.

PraiseTheLord

I am high risk too. My mother and grandmother had breast cancer. Mother died of it in 1988 at the age of 51- mets to the liver after 5 years in remission.

I am afraid I will die of it too. Like her I am in remission cancer free- but like her it may come back. My fathers side of the family - all the women had died from breast cancer mets. I don't have the cancer gene from genetic testing but they say I have the "Familio" aspect which is a "grey" area!

I am HER2 pos and ER PR pos. But the surgeon and docs didn't mention having my ovaries removed. My case manager did though. Is it common to have your ovaries removed at the same time of breast mastectomy or later? If so I am not looking forward to another surgery at all.

 I am doing everything natural right now to keep cancer away from me! What else can I do?