Genetic testing is at the forefront of the news, lately. It is being hotly debated in survivor circles, activist groups, and the medical community. Why? Well, it all begins with Mary-Claire King.
Geneticist and human rights activist, Mary-Claire King is a woman that we, in this community, owe a great debt of gratitude. Dr. King is credited with the discovery of the BRCA gene mutations. It was she, who demonstrated that a single gene on chromosome 17 was responsible for breast and ovarian cancer in many families. She revolutionized the study of hereditary diseases.
While always controversial, BRCA testing has become the subject of impassioned argument due to an article, by Dr. King, published in the Journal of the American Medical Association. This publication calls for population-based genetic testing — genetic testing for all women, 30 years of age or older, regardless of family history. Dr. King is trumpeting for something beyond cancer treatment — she wants cancer prevention. During her 20 years of experience studying these BRCA mutations, Dr. King has found that many women do not receive testing until after their first cancer diagnosis. This is because these women do not have enough evidence of cancer in their families to warrant testing. It is Dr. King’s assertion that, to discover the presence of a mutation after diagnosis, is a complete “failure of cancer prevention.” She reasons that all women should be offered testing, beginning at age 30, as part of their routine medical care. Dr. King is quick to say that this genetic testing should not be limitless. Modern testing can identify a mind-blowing number of mutations and markers linked to diseases. The testing Dr. King proposes, would be focused on the full spectrum of BRCA mutations, alone, because, we can do more than just identify these mutations, we can follow treatment options that effectively reduce the odds of developing the disease.
Mary-Claire King’s proposal has not been met with universal support. On the contrary, her words have sparked outrage in some. The argument in support of Dr. King’s proposal, is an obvious one: more testing = greater opportunity for prevention. It is the opposing argument that might not be immediately transparent.
Karuna Jagger is the executive director of Breast Cancer Action. She wrote an article for Huffington Post, entitled, “Genetic Testing for All Women? Not a Solution to the Breast Cancer Epidemic.” The article takes aim at Dr. King’s proposal on a number of levels. The crux of her argument seems to be that genetic testing is not the cure-all many want it to be. She believes that, by focusing too much on the individual patient, we lose sight of “systematic factors” contributing to the disease (I feel it should be noted that one of BCA’s biggest platforms centers on the anti-fracking movement). She, therefore, cautions us that supporting Dr. King’s proposal could be at the detriment of finding a cure for breast cancer.
When I first became aware of Ms. Jagger’s strongly-worded article, I was offended. My gut reaction was to interpret her article as an attack on Previvors — a belittling of the advances being made through genetic testing (a platform I am very passionate about). I wondered if the real issue was one of funding — don’t put your money toward testing because hereditary cancer accounts for a small percentage of total breast cancer cases. I believe it is short-sighted to disregard population-based genetic testing because a mere 5% of breast cancer cases are linked to BRCA mutations. Our goal in fighting breast and ovarian cancer should, ultimately, be prevention. Do not get me wrong, treatment and cure are of the utmost importance, but I want to prevent the disease from spreading. I want future generations to remember it as a concern of the past, outdated by medical advances. I, personally, believe prevention is the key to that future. Genetic testing is one avenue that must continue to be explored as a means to that end. Isn’t it possible that we can only attribute 5% of breast cancer cases to genetic causes because we have only identified a small number of BRCA mutations? Isn’t it possible that, the more we test, the more knowledge we gain, and the more hereditary factors we can pinpoint in breast cancer cases? My point is, don’t discount the potential benefits of this plan solely because of the 5% number. There are other numbers to take into account. For instance, those found with a BRCA mutation have an 87% chance of developing breast cancer and over a 40% chance of developing ovarian cancer. I was horrified to think that Ms. Jagger, a woman I so admire, would insult Dr. King’s life-saving advancements, and all we go through as the HBOC community, in such a manner. I was, however, wrong in making these presumptions.
Upon further reading, I found myself agreeing with many points in Ms. Jagger’s argument. While much of her dissention is based upon a fear of placing too much emphasis on hereditary factors, and upon squabbles over the potential cost of universal testing, she goes further than this. She asserts that one of the most dangerous parts of Dr. King’s proposal is that it removes genetic counselors from the equation. The emotional ramifications of genetic testing are extreme — I can’t imagine going through it without a professional to guide you. I found myself nodding along to Ms. Jagger’s concerns that you can not make fully informed medical decisions without the aid of counselors. The decisions made during testing, indeed, affect those beyond ourselves — they affect generations of our families. How can an individual be expected to make such decisions on their own?
Furthermore, Ms. Jagger ponders over the proposal’s restriction of information given to patients. The only findings one would be made aware of would be BRCA mutations. This means that, if another mutation or marker is found, you would not be told of it, even if it is linked to cancer. This is a tricky area. As Ms. Jagger warns, there are any number of moral and ethical issues involved here. What, as patients, should we be allowed to know? Who’s decision is that to make? Is it Dr. King’s?
My point is this: do not be quick to take sides in this debate. Learn the facts. Hear each side’s argument — there are valid, important points to each. I am a heavy proponent of genetic testing and prevention, but is this specific proposal the right answer? What do you think? Educate yourself and others. We need to work together, as a community of those fighting cancer, not tear each other down.
Last night, I read a very self-aware, probing article on Huffington Post, “The Most Important Question You Can Ask Yourself Today.” Please go read it. It is a good progression from my post about our holes. The article poses the question, “What are you willing to struggle for?” “What are you willing to experience pain for?”
I love this. We all want happiness, health, wealth, a good job, great family…but are you willing to truly fight for it? Will you make the tough sacrifices to achieve them? That’s the dividing line. If you’re not willing to sweat and diet, you’re not going to get the enviable body. If you don’t put in the long, grueling hours, you won’t make it to the top of your profession. So, what are you willing to struggle for?
For those of us that are parents, we sacrifice for our children. Our bodies are not only stretched to all creation and back during pregnancy, but afterwards, we are kicked, poked, pulled, scratched, tugged, hit, slapped…all in the name of keeping our children happy. We give up our own lives and goals to help them achieve theirs. And we do it gladly. This is the easy answer to the question posed. But what else? What means so much to us that we fight?
With BRCA and HBOC, every decision is hard-fought. We willing experience the pain to survive. Clinical trials, surgeries, chemo, radiation, experimental drugs…we do these things to live…for ourselves, our children, our families. We do it to fight for the future and to help others. We struggle for the chance to breathe each breath.
Cancer changes you. It brings your life into sharp focus. Since stepping into this world of cancer, my answers to these questions are different than they would have been before. That doesn’t mean my answers are more noble or important now, they are just different. Priorities change when you see your mortality in the mirror each morning. Frankly, I miss the woman, who would have answered those questions confidently and without hesitation — I would have given you a numbered, color-coded list of my pain-worthy goals. There would have been many of them. Now? Not so much. My list is small, comprised more of faces than items. I would give any body part, walk though fire, sacrifice everything for their happiness. I would, gladly, struggle each day to find a cure for cancer because my son and nieces depend upon it. These are my answers now. These are the things that matter to me now.
So, why do you fight? What is worth the pain to you?
I keep forgetting to link to this, but it’s so important: there is a new BRCA group on facebook for MEN! Please check it out, if you are interested. There aren’t many like it. Facebook.
Who needs a book club, when there’s a gene club? 23 and Me.
Karuna Jagger’s open letter to congress: Your Chemical Safety Improvement Act isn’t good enough! Huffington Post.
Portraits of Previvors and Survivors. Beautiful. Time Magazine.
Eating clean for your health. Huffington Post.
Foods every breast cancer survivor should know about. CNN.
Fighting inflammation with food. Health Central.
The “war on cancer” hasn’t gotten us very far. New York Times.
There is no cure and it’s time to get pissed off about it! Act with Love.
Love this girl and her blog. Well said, Andrea. Collaboration is the new competition. Brave Bosom.
This is fast becoming my favorite website. Free the data! Upworthy.com
Join the kickstarter campaign for this documentary about male breast cancer. Kickstarter.
A quick rundown of the P4C2013 conference. PACE
A wonderful blog post about the need for mental health care in cancer treatment. judesthinkin
What you should NEVER say to someone with cancer (and some things you should). FHRCRC
7 Things calm people do differently. Huffington Post.
Diet changes the may reduce your risk of cancer. U.S. News.
I really wish I could have gone to this conference. By all accounts, it was educational, empowering, and inspiring. I followed along on twitter as much as I could (social media amazes me sometimes). Check out the hashtag #P4C2013 to learn more.
There seems to have been a few big themes of the conference. The first was advocacy and patient empowerment. As I said the other day, we need to make our voices heard, while the doctors and researchers need to listen. As patients, we need to be more than loud, though. We need to be educated. Know your own risks and what they mean. Ask questions (always). Know the issues that affect you (gene patents, fracking, genetic discrimination, to name a few). This is how we become empowered and make our voices count.
Another big theme was partnership and collaboration. This is a biggie. There are so many cancer groups — in the breast cancer community, alone, there seems to be a million. Everyone is fighting for a cure, but we’re busy battling each other, too. Cancer (especially breast) has become big business, something to profit off of (see Myriad Genetics, as one example). This is getting in the way of true advancement. We need to collaborate. Scientists, patients, non-profits, doctors…we NEED each other. If we pooled our resources, how much more could we accomplish?
Finally, the seminars discussed taking this collaboration and combining it with crowd-sourcing to find the next big discovery. I believe this is the future of research. Crowd-sourcing is an amazing tool that allows patients to control their data, while donating to research. You decide where your data goes, while maintaining ownership. It’s the epitome of patient empowerment. Informed consent will play a large role in this type of research. Truly knowing what you are participating in…having the expectations broken down for you in plain language. No more blind acceptance. This is something exciting; a future to look forward to and fight for.
For more information about the conference, check out the Faster Cures tumblr page, or twitter hashtag #P4C2013.
If you, or someone you know, has recently been diagnosed with cancer, check out this link. It is an exciting new tool for patient empowerment. It will guide the newly diagnosed through their treatment options. We need one for BRCA & HBOC diagnosed, as well. Patients with Power.
Listening to music while working out is the ONLY way I can get through it. Huffington Post.
A more effective way to lose weight that is not a crash diet. Huffington Post.
A yummy-looking apple dip recipe with cream cheese and brown sugar! Mayo Clinic Recipes.