Should I be screened for BRAC?

October 24, 2011 12:53 PM

What potential drawbacks could there be if I get tested for the BRAC1 or 2 mutation?

At my last doctor's visit the physician's assistant recommended I get genetic screening for BRAC1 and 2 (indicators of higher risk for breast & ovarian cancer). She showed me a laundry list of risk factors I have (familial history, over 30 & never been pregnant, family members diagnosed before age 50 ) and said that if I did test positive, they would screen more aggressively and use the information to plan early detection visits. All of that sounds fine, and honestly, I think it's a great idea to be screen more frequently because of how many women in my lineage have had breast cancer, but I'd like to know more about potential downsides before I proceed.

1. Could the discovery of such a mutation cause my health insurer to drop me, or make me uninsurable in the future?

2. I understand that having this mutation may result in recommendations for mastectomy (full or partial) to be pushed if there ever is a discovery of cancer. I would really rather not undergo such radical treatment in the event a small lump or tumor is ever found. Is mastectomy recommended in patients with BRAC mutations more frequently than in the general populace?

Details: I'm in the U.S., mixed Latino/White ethnicity, pay for private health insurance, mother has been successfully treated for breast cancer thrice, on hormonal BC for over 10 years, might try to have kids in a year or so, no other major health issues.

posted by Kitty Stardust to health & fitness (9 answers total)

The worst thing that can happen, in my opinion, is that you do not have the gene and a sibling does.

Surgery is absolutely more like to be recommended if you have the gene. Genetic couselonv is Step two if you have the gene. If you do have gene and have counseling, they can talk to you about options and what you should do on the event of lumps do tumors and walk you through when and why surgery is a fabulous idea.

I cannot answer your insurance questions. (I was told a positive result would not be an issue. However, things change. If the next major elections don't go my way, we mixed folks and purely-non-whites may be required to donate our organs to Wall Street.) You may be able to get helpful answers from your insurance company.

In my case, it was very easy to go for testing because of a prknows. However, most of the women in my family have not and claim they don't need to because they don't or no longer smoke (which is frustrating!)

The insurability concern is valid. Absent that, let me bang a drum for more medical data for you and for everyone.

Memail if you want more specific, more personal, or more emotional details about my experience.
posted by Lesser Shrew at 1:26 PM on October 24, 2011 [1 favorite]

FAQs on the Genetic Information Nondiscrimination Act

Title I of the Genetic Information Nondiscrimination Act of 2008 (GINA) includes provisions that generally prohibit group health plans and health insurance issuers from discriminating based on genetic information... HIPAA prevents a plan or issuer from imposing a preexisting condition exclusion based solely on genetic information, and prohibits discrimination in individual eligibility, benefits, or premiums based on any health factor (including genetic information). GINA provides additional underwriting protections, prohibits requesting or requiring genetic testing, and restricts the collection of genetic information.
posted by EmilyClimbs at 1:32 PM on October 24, 2011 [1 favorite]

prknows = promise (iPhone. Must stop posting with iPhone.)

Thanks, EmilyClimbs!
posted by Lesser Shrew at 1:36 PM on October 24, 2011

Hi there! BRCA1-mutant-gene-having lady here!

1. Insurance questions really depend on your particular insurer and jurisdiction. It's still an evolving area of law. I have to say, I do have slight worries about my future insure-ability because of my genetic issues.

2. However, if there's a reasonable suspicion that you DO have this gene, you should absolutely be tested, and here is why: the current standard of preventative care for women with BRCA1/2 involved very frequent, very expensive monitoring - I currently get a pelvic ultrasound, a transvaginal ultrasound and a CA-125 every six months, as well as an MRI and a mammogram every year. It is ONLY because I am certifiably positive for the BRCA1 mutation that my insurance foots the bill for all this stuff.

3. In the event that cancer is detected, you will STILL be absolutely in control of your treatment... while your medical team can STRONGLY advise that you do one thing or another, the end decision rests with you.

4. That being said, you do need to be aware that if you test positive for the mutation, your ovaries' days are numbered: while getting a prophylactic mastectomy is an optional thing, MOST doctors now recommend prophylactic oophorectomy in BRCA1 patients by the age of 35 - 40. This is ANOTHER reason to get tested... for me, at least, it forced a lot of hard thought about my plans for my fertility.
posted by julthumbscrew at 2:18 PM on October 24, 2011

You might find this essay by a friend's sister helpful. It describes the process of her prophylactic mastectomy and hysterectomy, with some pretty good analysis of what the numbers really mean, and why she made the decision she did.
posted by Andrhia at 2:57 PM on October 24, 2011 [1 favorite]

BRCA1 carrier here. I understand that the option of mastectomy is very frightening, and that it feels extreme. Also, the operations (mastectomy and oophyrectomy) are expensive, invasive, and do not take your risk of cancers down to zero.
However, I would encourage you to get the test. Your shot of not carrying the gene is about 50/50, which are excellent odds by anyone's measure. I would also encourage you to look at these operations as opportunities to take control of your health. I was identified as a carrier at almost the same time I was diagnosed with breast cancer. I wish that I had had the option to prevent my cancer with a surgery. I envy you this opportunity.
posted by pickypicky at 3:39 PM on October 24, 2011

Since you mention you're part Latino, be aware that up to 20% of BRCA mutations in Latina women are only detectable through Myriad's supplemental test, which costs $700 extra and may not be covered by insurance. (I think there's a non-trivial but smaller number of mutations that go undetected with the primary test in folks of other backgrounds.) If you make a decision to do less frequent screening based on a negative test result, you want to be sure you don't actually have a BRCA mutation that's been "missed" by not looking for all the possibilities.

As far as insurance goes... well, a caveat: I'm signed up for the Personal Genome Project, which means I have an optimistic view on this subject. GINA satisfies most of my protection requirements, and I don't expect to see people lose coverage. But insurers are and will be interested in using genomic information to decide what treatments are and aren't covered for a given condition based on your particular mutations (see Question 2 on the GINA FAQ), based on how likely the average person with, say, a BRCA1 positive cancer is to respond to drug A vs. drug B. That's a very real scenario - but it's also in line with where the oncology community is headed (the concept of "personalized medicine" - choosing drugs based on individuals' genetic test results). But if you're someone that finds that thought uncomfortable, it's worth talking through with a professional.

Really, it's always good to find a really good genetic counselor who can help you understand relative risk statistics. You could probably go talk to one before you get the test, if you want a more expert opinion on how your test results might impact future screening and decision-making.
posted by deludingmyself at 3:46 PM on October 24, 2011 [1 favorite]

Genetic counselors said it looked like a breast-cancer-related genetic glitch (Cowden's Syndrome) was at work in my family but I decided against the blood test for these reasons:

- I was self-employed. Even though it's supposed to be illegal for insurance companies to discriminate based on genetic data, I thought that they would just find another reason to refuse me if I ever left my current crappy plan.
- The test would cost more than $2k.
- I was already doing all of the preventive stuff recommended by the counselors, except the regular MRIs, due just to my family history and my own medical history. So it seemed like blood-test confirmation would be redundant.

I had a $5,000 deductible so would have to pay for any MRIs. It appeared that the only advantage of being officially labeled would be to participate in a government study that would pay for my MRIs, for which I would have to fly to Washington, DC.

Instead, I moved to Mexico. Cheap health care was only one of many reasons, but here I can get all my preventive stuff done at one-third the cost and I pay a lot less for health insurance as well.

I had my ovaries removed several years ago, when I was in my early 40s, and it was done as an outpatient procedure. I was walking around and functional in days. Because I had endometriosis, the surgery changed my life immensely for the better, as well as reducing my risk of breast cancer.
posted by ceiba at 5:59 PM on October 24, 2011

This is weird. Shouldn't your mother have the test first, as she's the affected person? What if you are found to carry a mutation that she does not have, how would that affect your decision making? I would strongly suggest you see a genetic counsellor to talk this through. This is too complicated for metafilter.
posted by superfish at 7:11 PM on October 24, 2011