For my next badge work I was a little surprised to learn that gene mapping is central to a badge task.
Scouts are asked to look into an illness that’s linked to genes, then consider the pros and cons of genetic tests.
Would a scout want to know what potential diseases that lay waiting in her genes? In what situations? And who, if anyone, should have access to this information?
These are questions I face in hindsight.
Though I’m still due for my annual mammogram, I recently celebrated the ninth anniversary of successful surgery to remove, and yes, it’s a celebration. To the best of my knowledge, I was the first leaf in the family tree to develop breast cancer. It was a shocker. At age 41, I felt waaaaaay too young to be dealing with this illness.
Breast cancer hits one in eight women in her lifetime. Put that in perspective: take a trip to the supermarket any crowded Saturday afternoon, and that’s about one woman per aisle.
That’s the bad news. The better news is that screening and treatments have increased the odds for survival. Only one in 35 women will die from this right now.
Sadly, one of most controversial screenings is the test for the breast cancer gene mutation. The controversy lies in the implications surrounding potential insurance coverage and also based on some unsavory options for women who find they do have the mutation.
BADGE WORK UPDATE: SCIENCE SLEUTH
A little about these genetic mutations: Two genes have been linked to breast cancer: BRCA1 and BRCA2. Inheriting a mutation of either of these genes greatly increases the odds of developing hereditary breast cancer, and while women get the lion’s share of breast cancer, the consequences of inheriting this mutation are trouble for men, too.
There are other mutations associated with increased risk of breast cancer, but these two are the big ones. And some mutations are more likely to appear in certain ethnicities (Ashkenazi Jews, for instance, are five times more likely to have one of these mutations than the general population).
Genetic testing is available for anyone who wants to know if they’re carrying either of these mutations; clearly, it’s a test that could be of great interest to anyone with a history of breast cancer in their family.
In addition to an increased likelihood of breast cancer, mutations of one or both of these genes have been linked to increased risk of ovarian, cervical, pancreatic, colon, stomach, gallbladder, and bile duct cancer. Seriously, this is a terrible mutation.
For me, breast cancer sits right up there in my top three of horrible things in my lifetime, along with a divorce and the death of my father. So I completely understand the need to know. Wondering if you’d get the same thing that killed your grandmother and made your mother sick must be an incredible stressor.
And there is such a clear linkage between these two mutations and breast cancer, it can’t be denied. It’s particularly true forwomen.
So the test has value, if for no other reason than educating ourselves about our health and health risks allows us to make informed decisions.
But the test is not necessarily a true predictor. While a woman who has inherited this gene is five times more likely to develop an associated cancer, there’s no guarantee she will.
Conversely, a woman with a family history of breast cancer who tests negative for the mutation doesn’t mean she won’t get breast cancer–it just means she has the same risk as the general population.
Women considering this genetic testing are advised, if not required, to go through counseling which provides guidance on the kinds of testing involved, the implications of any result, the mental health risks of getting a positive result, and the medical treatments available. Test results–regardless of outcome–can reduce stress by providing answers, but they can also increase stress pretty substantively as women look at options and make difficult decisions.
So let’s say there’s plenty of reason in your family tree to suggest that you might have one of these mutations. Let’s say you decide to take the test. Let’s say it comes back positive. What do you do then?
If the mutation is found, a few options exist.
- Step up screening. Some patients may opt to increase frequency of diagnostic mammograms or begin them before the recommended age–still 40, with arguments leaning towards 50. Magnetic resonance imaging (MRI) is also turning out to be a pretty effective screening option and certainly deserves to be open to women at greater risk for the disease. Based on my experience, I’m all about early detection. It doesn’t just save lives, it saves the quality of lives. My cancer was caught early, treated aggressively, and I’ve gotten to move forward with life pretty normally.
- Pre-emptive surgery. It doesn’t provide a 100% guarantee, but a bilateral (both breasts) mastectomy can remove the tissue with the highest risk of developing cancer cells. While this measure is extreme, and controversial, it may be the kind of option that actually minimizes the stress and worry that comes with wondering whether that hammer is ever gonna come down.
- Drug therapy. Clinical research on drugs like tamoxifin and raloxifene is ongoing to determine their effectiveness in reducing the risk of cancer in pre- and post-menopausal women who carry the BRCA1 or BRCA2 mutation. The jury is still out, and these drugs are not without their own side effects, but it could make sense for at-risk women to consider this option.
- Change behavior to reduce risk factors. In other words, if we know something has been linked to an increased risk of breast cancer, we can presumably reduce our risk by changing some of the things we do. Research is, in large measure, inconclusive so far, but studies suggest possible increased risks due to oral contraceptives, hormone replacement therapy, obesity and dietary fat, physical activity, smoking, and alcohol consumption. (Note that these studies often study these risk factors on the general population–not necessarily those women who have the gene mutation.)
Going on the soapbox here: the decision to test, and subsequently take select action, is about as personal as any decision gets. In the same way patients and their doctors must be the decision makers about treatment of any illness, testing for an illness should be awarded the same deliberate, careful consideration. Which begs the question…
Are genetic testing results truly private?
Right now, federal and state laws protect the privacy of any individual’s genetic information and prevent discrimination in hiring and the acquisition of health insurance. I’m not one for conspiracy theories, but to me, the operative words in that first sentence are “right now.” Here’s some language from the National Cancer Institute:
“Clinical test results are normally included in a person’s medical records. Consequently, individuals considering genetic testing must understand that their results might not be kept private [emphasis added].
“Because a person’s genetic information is considered health information, it is covered by the Privacy Rule of the Health Information Portability and Accountability Act (HIPAA) of 1996 (21). The Privacy Rule requires that health care providers and others protect the privacy of health information, sets boundaries on the use and release of health records, and empowers individuals to control certain uses and disclosures of their health-related information. Many states also have laws to protect the privacy and limit the release of genetic and other health information.
“In 2008, the Genetic Information Nondiscrimination Act (GINA) became Federal law (see Question 15). GINA prohibits discrimination based on genetic information in relation to health insurance and employment, but the law does not cover life insurance, disability insurance, and long-term care insurance. When applying for these types of insurance, people may be asked to sign forms that give an insurance company permission to access their medical records. The insurance company may take genetic test results into account when making decisions about coverage.”
Do you see any red flags in that language? I do.
The Reader’s Digest version of my personal concerns read thusly:
- Legislation can always be changed. Insurance companies are untrustworthy profit centers who regularly kick sick people off of their rolls. Said insurers are regular and large contributors to elected officials who change legislation and regularly push for changes in legislation to improve their bottom line.
- As long as profit is the motive behind health care in our nation (and it will always be the motive as long as it’s run by private companies), we can just follow the money; if it’s going to cost insurers more than they want to pay, the interests of the patient will never be front and center when care is decided. Unless a patient has unlimited funds, insurers will be driving decisions–not patients and physicians. And as much as I that wish last year’s health reform bill would have changed that, it doesn’t.
- Additionally, as we move towards electronic medical records, we increase the likelihood that private medical information will become increasingly available to anyone with the right password.
I’ve just made a number of generalizations, so let me bring it home. If my family history suggested I was at-risk and a test could help me be proactive about my health care, I’d be really nervous about reporting this to my health insurance company or asking them to pay for the test in part or full.
Right now, a positive result would either result in a) having my premiums raised so high as to be unaffordable, or b) just getting me kicked off the policy. Either way, I’d feel like a walking time bomb with no idea how to pay for possible future treatment. Yes, they’re not supposed to deny coverage, but did we not hear story after story suggesting otherwise during a year of public testimony during the health care debate? It might be illegal, but there have been no resources to monitor the insurance industry. I’m reminded of the great moment in Casablanca: “I’m shocked, shocked to discover that there is gambling going on in here!”
So I’m glad I don’t find myself in the position of wanting to know whether I carry the BRCA1 or BRCA2 mutation. Though there is no family history of breast cancer, it’s still possible I’m carrying the mutation. But since I’ve already crossed this bridge, it’s not like I really need to know.
Current genetic testing may help patients make informed decisions to stay healthy, but there are any number of stressors that come with those tests. Seems to me you really have got to want to know to be a good candidate. I’m grateful not to find myself in that group. It’s also one small reason to be grateful I don’t have a daughter who will worry.
Much of this information came from the National Cancer Institute’s Website, and I’m reminded of how grateful I am to live in a time when so many resources sit at our fingertips. For more information on genetic testing, visit the National Cancer Institute’s Cancer Genetics page and the site’s breast cancer testing page.
If you’re looking for really user-friendly general information and resources about breast cancer, start with the Susan G. Komen Foundation.
And finally, I’d be remiss if I neglected to mention the resource here in Austin of greatest help to me 9 years ago when I underwent treatment. The Breast Cancer Resource Center of Austin provides invaluable support and resources for cancer patients and their families. It’s run by women who have walked the walk, and they would be my first call were I ever to receive a new diagnosis.