BRCA, to do or not

If you are familiar with your family's cancer history (both sides--mother and father--the mutation can come through either parent) and there has not been any breast or ovarian cancer, most insurances won't cover it unless your doctor can make a case for it, and it is likely that your family does not have the BRCA1 or BRCA2 mutation. Your doctor should be able to advise you on whether testing is a good idea. If there has been breast/ovarian cancer in your family, or you don't know your family history, a couple of companies that do genetic testing are Color Genomics www.color.com and Myriad https://myriad.com . You can order the test yourself or through your doctor. The Color Genomics test costs $249 and they will have a genetic counselor speak to you if you request it. Color Genomics also partners with cancer centers to provide low cost or free testing to people who cannot afford the it (click on Programs on their website), but I believe just in the United States and I can't tell from your post where you live. I have used Color Genomics myself and they were good--I got results about 2 weeks after turning in the test kit. You order it through the website, provide a saliva sample, and they get back to you by email with results. Good luck!

Hi NEP:

I noticed this post is in the Triple-Negative Breast Cancer Forum, suggesting you may have had triple-negative disease. Elsewhere it looks like you were age 38 when diagnosed?

Please ask your medical oncologist or general practitioner for a referral for genetic counseling to discuss the possibility of a genetic testing. The National Comprehensive Cancer Network ("NCCN") Guidelines for "Genetic/Familial High-Risk Assessment: Breast and Ovarian" (Version 2.2017) set forth a long list of criteria that lead one to "[c]onsider referral to cancer genetics professional" (Chart BR/OV-1, pdf page 6). Among the many criteria are:

"An individual with a breast cancer diagnosis meeting any of the following: . . .

- Early-age-onset breast cancer (b)

- Triple negative (ER-, PR-, HER2-) breast cancer diagnosed ≤60 y . . ."

Note (b) regarding "early-age-onset" states: "Clinically use age ≤50 y because studies define early onset as either ≤40 or ≤50 y."

Either of these two criteria (or others listed in the guideline) which you appear to meet can trigger consideration of a referral to a cancer genetics professional.

For some background only, here is a short article from 2014 about genetic testing in triple-negative disease:

Domchek (2014), "Evolution of Genetic Testing for Inherited Susceptibility to Breast Cancer"

http://ascopubs.org/doi/pdf/10.1200/JCO.2014.59.3178

(Free pdf available for download)

This article is not a substitute for current, case-specifc advice from a genetic counselor.

If you have comprehensive insurance coverage, genetic counseling is more likely to be covered when it is clearly within guidelines, but it is a good idea to confirm coverage for counseling. If genetic testing is recommended to you, your genetic counselor should confirm insurance coverage for such testing as a preliminary step. They will explain it to you.

NCCN guidelines and ASCO policy statements both recommend both pre-test and post-test genetic counseling. A genetic counselor would collect a personal medical and family history, conduct a genetic / familial risk assessment, and advise you whether genetic testing is recommended in your case. If so, they will also make a recommendation about the scope of genetic testing (which genes? BRCA1, BRCA2, maybe others?). They will also discuss some of the pros and cons of such testing with you. As you appreciated, the results might also have implications for your family members (e.g., parents, siblings, children). A patient may elect or decline testing.

There is a thread here about genetic testing results for those with triple-negative disease. (Keep in mind that this type of informal survey is not an accurate reflection of the incidence of BRCA mutations in triple-negative patients observed in clinical studies.)

https://community.breastcancer.org/forum/72/topics/841681?page=1#post_4652513

Best,

BarredOwl

Hi NEP:

I am sorry you are in this difficult situation in your country. In the absence of access to a trained medical genetics professional, perhaps you can discuss your questions about genetic testing with your Medical Oncologist. If testing is recommended, you can ask about the possible outcomes of genetic testing and the potential implications of certain outcomes for your medical management and for your family members. You should also seek some discussion of the limitations, pros, and cons of genetic testing, as you consider whether genetic testing is right for you.

Be sure to inquire whether your local laws provide any protection in case of a positive test result, with regard to access to health coverage and employment, as well as life insurance; disability insurance; or long-term care insurance.

Perhaps your Medical Oncologist or social worker at your treatment center can provide you with information about possible resources to help support the cost of testing if recommended and of interest to you.

You may wish to provide a copy of this guideline to your Medical Oncologist well in advance of an appointment to discuss genetic testing:

NCCN Guideline re "Genetic/Familial High-Risk Assessment: Breast and Ovarian"

https://www.nccn.org/professionals/physician_gls/f_guidelines.asp#genetics_screening

The guideline is available at no charge with free registration. The current version is Version 2.2017 (dated December 7, 2016). However, the guideline is updated from time to time, so each time you consult it, please check the NCCN website for the most current version.

This guideline is provided for background information only and to help inform discussions with your doctor. It is not a substitute for case-specific advice from a medical professional.

BarredOwl