I support the ACA. It's a law that has done far more good than bad. It's saving lives and one of the best things about the ACA is that preventive care is performed with no cost sharing from the patient.
Over the last two years I helped a few people on the front lines of dealing with breast cancer, ovarian cancer and BRCA testing/screening and discovered that the ACA "preventive care" standards are quite challenging to comprehend. The preventive services list supplied by Healthcare.gov looks complete, pretty much what you'd want to see on the list, but it isn't. There are more included services that are listed on supplemental pages further explaining more covered preventive care services for unusual cases that require more than one line explanations.
It sure does look good. Then several people asked me for help in figuring out what was and wasn't preventive care as they went about getting care. Most of the time it's pretty straight forward, but it's not when it comes to something like navigating BRCA genetic mutation.
When you get down to using preventive services, the "free" stops when you get a positive result. There's more to it than this intro. I've tried to set it up for skim reading, but a complicated subject like ACA preventive care for patients with the BRCA mutation gets a complicated, long diary.
If you are interested in the thought process taken over the course of years for a patient with the BRCA mutation, jump over to the other side of the fleur de Kos.
I first clued into the gaps on preventive care while watching one panel or another discussing Angelina Jolie's prophylactic hysterectomy. The point that jarred me was that the preventive care ends with positive test results (in this case you get a paper stating you have a specified gene marker that is considered deleterious). One panelist pointed out that Ms. Jolie was able to afford the cost sharing for her surgeries and not all women can do that.
That panel sent me on a fact finding mission. In a sense, all medical care is preventive in that necessary medical care prevents permanent damage and loss of life, but where do we draw the line? The ACA includes vaccines a prophylactic intervention. It covers an aspirin a day for heart disease prevention, but not lipid reducers like Crestor or Lipitor which would be as beneficial if not more beneficial than an aspirin. Who decides what's on the list? How are these decisions made? No surprise, it turns out it's a combination of cost-benefit analysis and political wrangling.
The USPSTF, the United States Preventive Services Task Force was created in 1984. They meet and discuss what is and isn't preventive care based upon evidence based medicine. Their recommendations may or may not end up on the ACA list of preventive services (like birth control is not on the USPSTF list, but it is on the ACA list).
Again, the lists look sensible, but if you have an issue like Angelina Jolie with either BRCA 1 or BRCA 2 mutation, you soon find that what the patient and their physicians thinks of as preventative care is quite different than what the USPSTF or the ACA lists specify.
The BRCA 1 and BRCA 2 genetic mutations affects a small percentage of the female population as a whole (2-2.5%). Studies show those of Ashkenazi Jewish heritage can run about 10% of their population. Within certain families it's much higher. Once the BRCA gene mutation is found within your family, your risks go up quite a bit. For example, if your mother or father has a specific deleterious BRCA 1 mutation (there are about 1,800 mutations, but not all of them are considered deleterious), then you have a 50% chance of having it, too. If your Aunt has the mutation, but your parent doesn't; you have zero chance of having the mutation through that parent and if you are negative, your children are negative through you. If you have this specific mutation and you are female, your chances of developing breast cancer by age 70 is around 87% and developing ovarian cancer is around 39%. I'm just discussing one mutation, here. Other mutations carry different percentages of risk. To bring this number back to the female population as a whole, for this specific mutation, 87% of the BRCA 1 positive portion of the 2-2.5% are likely to develop breast cancer before age 70. Likewise, 39% of the BRCA 1 positive portion of the 2-2.5% are likely to develop ovarian cancer before age 70.
OK, before you reach for the phone and demand a genetic test for BRCA 1 or 2 mutations, you should know in the U.S you have about a 12% chance of developing breast cancer and about a 1.3% chance of developing ovarian cancer in your lifetime. Remember, cancer is largely the result of bad luck and BRCA 1 or 2 is part of the bad luck.
Anyway, back to preventive care.
If you are one of these 39% destined to develop ovarian cancer or 87% destined for breast cancer, your cancer screening changes from what is recommended for the female population as a whole.
Breast Cancer Screening for all women:
The USPSTF recommends screening mammography for women, with or without clinical breast examination, every 1 to 2 years for women age 40 years and older.
If your radiologist calls for a breast ultrasound or a breast MRI after your mammogram, that is not considered preventive medicine and is subject to deductibles, coinsurance and copays. If you have the money you get the extra tests, if not, then you either get the test anyway and destroy your credit, or go without and deal with the anxiety.
Ovarian Cancer Screening for all women:
We got nothing. No current ovarian cancer screening is considered effective enough to be considered preventive care. Any tests or imaging done is done subject to deductibles, coinsurance and copays.
I'll let these people explain:
Screening tests for ovarian cancer
Screening tests and exams are used to detect a disease, like cancer, in people who don’t have any symptoms. Perhaps the best example of this is the mammogram, which can often detect breast cancer in its earliest stage, even before a doctor can feel the cancer. There has been a lot of research to develop a screening test for ovarian cancer, but there hasn’t been much success so far. The 2 tests used most often to screen for ovarian cancer are transvaginal ultrasound (TVUS) and the CA-125 blood test.
TVUS is a test that uses sound waves to look at the uterus, fallopian tubes, and ovaries by putting an ultrasound wand into the vagina. It can help find a mass (tumor) in the ovary, but it can't actually tell if a mass is cancer or benign. When it is used for screening, most of the masses found are not cancer.
CA-125 is a protein in the blood. In many women with ovarian cancer, levels of CA-125 are high. This test can be useful as a tumor marker to help guide treatment in women known to have ovarian cancer, because a high level often goes down if treatment is working.
But checking CA-125 levels has not been found to be as useful as a screening test for ovarian cancer. The problem with using this test for screening is that common conditions other than cancer can also cause high levels of CA-125. In women who have not been diagnosed with cancer, a high CA-125 level is more often caused by one of these other conditions and not ovarian cancer. Also, not everyone who has ovarian cancer has a high CA-125 level. When someone who is not known to have ovarian cancer has an abnormal CA-125 level, the doctor might repeat the test (to make sure the result is correct). The doctor could also consider ordering a transvaginal ultrasound test.
In studies of women at average risk of ovarian cancer, using TVUS and CA-125 for screening led to more testing and sometimes more surgeries, but did not lower the number of deaths caused by ovarian cancer. For that reason, no major medical or professional organization recommends the routine use of TVUS or the CA-125 blood test to screen for ovarian cancer.
Some organizations state that these tests may be offered to screen women who have a high risk of ovarian cancer due to an inherited genetic syndrome (discussed in the section “Do we know what causes ovarian cancer?”). Still, even in these women, it’s not clear that using these tests for screening lowers their chances of dying from ovarian cancer.
Better ways to screen for ovarian cancer are being researched. Hopefully, improvements in screening tests will eventually lead to a lower ovarian cancer death rate.
There are no recommended screening tests for germ cell tumors or stromal tumors. Some germ cell cancers release certain protein markers such as human chorionic gonadotropin (HCG) and alpha-fetoprotein (AFP) into the blood. After these tumors have been treated by surgery and chemotherapy, blood tests for these markers can be used to see if treatment is working and to determine if the cancer is coming back.
Researchers continue to look for new tests to help diagnose ovarian cancer early but currently there are no reliable screening tests.
Last Medical Review: 08/05/2014
Last Revised: 03/12/2015
To sum up:
We know that 12% of women as a whole are likely to develop breast cancer and 1.3% of women are likely to develop ovarian cancer, but if a woman has the BRCA 1 gene deleterious mutation, her risks jump by a factor of 7 for breast cancer and a factor of 30 for ovarian cancer. Which for many women who find themselves in this situation, it is sobering news, indeed.
Which begs the question of how to narrow down the field and determine who is truly at risk.
Why are BRCA 1 and BRCA 2 mutations so significant?
BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of the cell’s genetic material. When either of these genes is mutated, or altered, such that its protein product either is not made or does not function correctly, DNA damage may not be repaired properly. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer.
What does "deleterious" with regard to BRCA mean?
A positive test result indicates that a person has inherited a known harmful mutation in BRCA1 or BRCA2 and, therefore, has an increased risk of developing certain cancers. However, a positive test result cannot tell whether or when an individual will actually develop cancer. For example, some women who inherit a harmful BRCA1 or BRCA2 mutation will never develop breast or ovarian cancer.
BRCA 1 and BRCA 2 Testing:
If you have a BRCA 1 or BRCA 2 positive family member - one primary relative (referred to as first degree) who shares 50% of your genes (Mother, sister, brother, Aunt, Uncle, child) or two secondary relatives (referred to as second degree which would be a Grandparent or first cousins) who share about 25% of your genes - and you are over 18 years of age, then you qualify for the genetic test. This genetic test is considered preventive medicine and is performed at no cost sharing to you. Men who have BRCA mution family histories and have fathered children should also consider being tested for a couple reasons. One they have increased risks for prostate and other cancers and their children have a possible exposure, too.
Women under 18 and women without a family history of this mutation do not qualify for a preventive genetic screening and if they determine they must know, then they pay for the test, cash. That isn't quite as bad as you would think. Knowing you have a positive BRCA 1 or 2 status will not affect you ability to obtain health insurance, but it could impact your employability and possibly your ability to obtain life and/or disability insurance. Not knowing means you can check the "no" box on disability and life insurance applications.
Genetic Testing Caveats:
1. The process from learning of a family member with a BRCA mutation to you receiving the genetic test can take anywhere from a couple months to a year depending upon the availability in your area and if you have a suspected tumor.
2. Follow the rules and the $500-$1,500 test (depending upon what's right for you) will be considered preventive care at no cost to you. Break the rules and you pay the $500-$1,500 and because you broke the rules, you might not get the benefit of limited charges and the costs can spiral into many thousands of dollars.
3. Your insurer may (probably will) require you to undergo genetic counseling prior to receiving the test.
4. Some insurance carriers require specific credentials for genetic counselors and not all nurse practitioners or physician assistants qualify - be sure to check your network's listing. To give you an idea how rare this credential is, There are only 2 acceptable genetic counselors available in one major insurance carrier's network for the roughly 5 million people who live in Miami-Dade and Broward counties. Go out of network and nothing will be covered.
5. The properly credentialed genetic counselor may work for a physician that requires they see you after the genetic counseling and this visit may not be considered preventive by your insurer and you may have to pay for the entire visit.
6. The results of this test will not be given to you over the phone and you must go back for another visit to get the results and your insurer may not consider this preventive medicine and you may have to pay for the entire visit.
And, there's more to think about regarding BRCA testing:
Neither breast cancer nor ovarian cancer patients are automatically tested for BRCA 1 or BRCA 2 mutations (only those with qualifying family histories or meet some other qualification set are tested).
Therefore:
1. We don't know what percentage of all breast cancer cases have the BRCA 1 or BRCA 2 mutation.
2. We don't know what percentage of all ovarian cancer cases have the BRCA 1 or BRCA 2 mutation.
3. Since no evidence based projections can be made screening tests such as bilateral ovarian ultrasounds, bilateral breast ultrasounds, bilateral breast MRI's and other expensive tests are not considered preventive care and are subject to full deductibles, coinsurance and copays. Another way to look at it is there's no evidence that bilateral ultrasounds or MRI's of breasts and ovaries have sufficient cost benefit ratios to warrant being considered preventive care for this small segment of the population.
The bottom line on BRCA 1 and BRCA 2 testing is once you have a "positive" test result, a piece of paper with the center of it looking something like the one below, you have a lot to think about and a lot to decide.
This insert shows the gene marker position and that the position that should show a "C" actually has a "T" which means that when this person's body produces that particular protein it truncates the protein at that point rendering it ineffective. (The other gene from the other parent is still working. I still haven't had any health professional tell me what happens when people get BRCA mutations from both parents. Every one I've asked - about 30 - has said they've never encountered it; so, I can't share that with you.) The "Deleterious" means this particular mutation is associated with higher instances of multiple types of cancer.
Moving on from testing to screening:
Breast and Ovarian Cancer Screening for a BRCA positive woman under the ACA:
Breast cancer screening for all women:
The USPSTF recommends screening mammography for women, with or without clinical breast examination, every 1 to 2 years for women age 40 years and older.
That is considerably less screening than most doctors recommend.
Recommended Breast Screening for women with BRCA 1 or 2 mutation women:
Breast Cancer Screening: In general, it is recommended that women with BRCA1 or BRCA2 mutations get more intensive breast screening (Mammograms, breast ultrasounds and breast MRIs), starting at an earlier age (age 25) dependent upon family history and physician recommendations. The mammo and ultrasound is often recommended to be done offset 6 months from the breast MRI.
For women who find themselves in this situation, the mammogram is a preventive service, the ultrasound and MRI are not and they are subject to full deductible, coinsurance and copays. The ultrasounds and MRI tests have two components, the physical test and the charges from the radiologist who interprets the tests - a double whammy. Women who can pay for these services get them. Women who cannot pay for these services worry. They worry a lot.
But wait, there's more
People with the BRCA 1 and BRCA 2 mutation are also strongly urged to do screening colonoscopies as they are also at higher risks for digestive cancers. And, then there's melanoma screening, too; because the mutation increases those risks too.
Breast cancer preventive medications:
The USPSTF recommends that clinicians engage in shared, informed decision making with women who are at increased risk for breast cancer about medications to reduce their risk. For women who are at increased risk for breast cancer and at low risk for adverse medication effects, clinicians should offer to prescribe risk-reducing medications, such as tamoxifen or raloxifene. (Both of these drugs are available in generic form which is likely why they are considered preventive care.)
To unpack that, you need to know that one of the "side effects" of tamoxifen is an increased risk for ovarian cancer. So, if you are BRCA 1 or 2 positive and have retained your ovaries; then these medications are not for you. They are considered contraindicated.
Which leads to surgery.
Surgery for BRCA 1 or 2 patients is considered elective and is subject to all deductibles, coinsurance and copays from the hospital, surgeon, anesthesiologist, radiologist and whoever else gets in on the case for pre-op care, the facility stay and post-op care.
Surgical treatment plans for people with BRCA mutations are both nuanced and straight forward at the same time. It doesn't matter that studies show that those women with the BRCA 1 or BRCA 2 mutation who have bilateral mastectomies and/or hysterectomies have much better outcomes. It doesn't matter that the outcomes for post-menopausal BRCA 1 women do better with total hysterectomies. It doesn't matter that the evidence is piling up pointing out the benefits of this course of treatment. We're talking expensive surgery here and as far as the government panel is concerned, prophylactic surgery doesn't have enough evidence yet, to put it on the preventive care list (too many variables). Which is fine (except for the expense) because, having a surgery that removes your reproductive organs is a life changing event that requires careful thought and planning.
Prophylactic Breast Surgery
Studies show BRCA 1 and BRCA 2 women do better with double mastecomties and as soon as a woman is told she has a deleterious BRCA mutation, most of the physicians state if you want an 80% reduction in risk, the breasts must be removed. There's a lot of talk about reconstruction done at the same time, however, most women get roiled at the idea of losing their iconic representation of womanhood - their breasts. That idea may take some time before a woman is open to a double mastectomy, but that's ok. Mastectomy surgery is elective because screening methods of mammograms, breast ultrasounds and breast MRI's are up to the task of identifying breast tumors at an early stage which is why many doctors recommend offset screenings every 6 months rather than doing all three once a year. It is a concern where a woman hasn't had a hysterectomy, medications like tamoxofen are not an option as it would add higher risks of ovarian cancer to someone who already has 30 times the risk for ovarian cancer.
What is not understandable is why breast ultrasounds and breast MRIs are not considered preventive medicine for the qualifying condition of having the BRCA 1 or BRCA 2 gene mutations. Despite the good screening, studies show that BRCA positive women who undergo double mastectomies have excellent outcomes, better outcomes than BRCA positive women who do not have double mastectomies. If the mastectomies aren't considered preventive, shouldn't enhanced screening fall onto the list for BRCA positive women? From the cynic's view, I guess not. Eventually, the mammogram will pick up on the tumor. I guess we're to suppose it's better late, than never. Plus, since it's a tiny part of the population, there aren't enough people to swing a vote either way.
Prophylactic Ovarian Surgery
For ovarian cancer the it's just as complicated. We know women do better if they can keep their ovaries until age 65 (give or take a year or two). We also know the tests for ovarian cancer are largely ineffective and the symptoms are vague, very vague and seem like digestive troubles until the patient is at stage 2 or stage 3 ovarian cancer where outcomes are much dimmer.
Recommending a hysterectomy for a women who hasn't reached the age of menopause has lots of contraindications where you would have to weigh the benefits against the risks (which has a lot to do with the CA 125 test that may give false positives or false negatives). If you are post menopausal, then the outlook flips and the benefits of hysterectomy outweigh the risks despite being younger than 65. Studies show that a partial hysterectomy that removes the ovaraies and fallopian tubes is pretty clear cut with a BRCA positive patient, but studies show that BRCA 1 women who also have the uterus removed have better outcomes than those who leave the uterus to develop problems later in life.
The Big C
For many reasons, many people with the BRCA mutation opt for the enhanced screening instead of preventive surgery. This approach works better for breast cancer than ovarian cancer. Eventually a screening test will come back with a value that calls for greater intervention. It might be one, two or five years later. Hopefully, the treatment plan worked. The tumor was detected at an early stage and there is no lymph node involvement or better yet, it's a pre-cancerous condition and no chemo or radiation is warranted. Either way this greater intervention whether it be a biopsy, partial or full removal is subject to all deductibles, coinsurance and copays.
The Wow Factor
Every person I've met who dealt with breast cancer or without genetic mutations has trouble wrapping their head around their condition and the treatment options available to them. The implications of being a BRCA 1 or BRCA 2 carrier is complicated forcing difficult, complex decisions that often stretch across months and years. So many of those decisions are based upon affordability. Figuring out the intricacies of what is and is not covered as well as what is and is not considered preventive care under your health insurance policy forces many women to choose less than ideal treatment plan solely on the basis of cost.
Before the ACA a being BRCA 1 or BRCA 2 was a pre-existing condition that could result in a retroactive policy rescission. I know of about 5 women who died of breast cancer pre-ACA because they couldn't get screenings, surgery, chemo or radiation in a timely manner. Others depended upon charity care through the Komen or the Knight-Ridder Foundations. Big deductibles is a constant complaint I hear about Obamacare policies, but in the case of BRCA1 and BRCA 2 at least you have a annual ceiling on cost sharing. I see $1,500-$3,000 deductibles and many of these policies have the deductible and the out-of-pocket maximum be the same number, $6,300. That is a lot of money, but you don't have to pay it out all at once. At least you know the worst the bad can be on an annual basis if you are BRCA positive. And, you now have the comfort of knowing there's no lifetime maximum or pre-existing condition preventing you from moving to another plan next year. Is this an ideal situation? No, but it's better than it was in 2010 before the ACA.
We are better off today with the ACA, but sometimes I wish the law wasn't so complicated.
10:48 AM PT: Thank you Rescue Rangers for another diary. I hope those of you who know people dealing with BRCA mutations find this helpful.
UPDATE: I changed the verbiage from "BRCA positive" to "with BRCA mutation" throughout the diary. I'm sure I missed a couple instances here and there, but that was my overall intent to decrease confusion. Also, I got permission to put the insert of what the test result looks like in the center of the diary. That's added with a short explanation.