Women CAN Handle the Truth–About Cancer OR Alzheimer’s

The BRCA genes were discovered in 1994 and 1995, but when you visited your doctor anytime from 1995 through the early 2000s, chances are that she or he did not recommend that you test for a mutation on the genes that would indicate an increased chance of developing ovarian or breast cancers. Why not? Because the paternalistic feeling of much of the medical community was that women who might be carriers of mutations couldn’t handle knowing their risk.

In fact, in 1998, an esteemed panel of experts convened a conference at Stanford University to decide what to do with the newfound ability to test for these genes. Their conclusion? Genetic testing for BRCA1 and BRCA2:

… is not appropriate for widespread clinical use or population screening, but may be beneficial in some circumstances–for example, in families experiencing multiple cases of cancer. Testing would raise fewer problems if definitive preventive interventions were available for those with the mutations, and if society better protected people with genetic risk of cancer.

Some doctors went so far as to test women for BRCA mutations but then refused to tell them the results because they thought the knowledge would be harmful. Other experts at that time concluded: “There are no known methods for preventing breast or ovarian cancer that would be particularly important to women with versions of these genes.” Essentially, doctors were throwing up their hands and saying they didn’t have any good options, so foreknowledge could be a dangerous thing.

Fortunately, times have changed. Medical experts now agree that genetic testing for BRCA genetic mutations can save lives, and that interventions are available. And the feared psychological harms have not materialized. Numerous studies of at-risk women have been conducted over the past decade and the consensus is: Women can handle the truth! Studies of individuals receiving such genetic information suggest that those who do not carry “at-risk” genotypes derive psychological benefits, while those identified as at risk show no adverse effects, according to a 2009 study in the British Journal of Psychiatry.

Does this mean there are no psychological impacts from genetic testing and discovering you are at genetically high risk for cancer? No. Learning you are at high risk for cancer causes stress, no doubt. The women profiled in the book Positive Results: Making the Best Decisions When You’re at High Risk for Breast or Ovarian Cancer candidly discuss the emotional toll of knowing about a BRCA mutation. But they also show how this knowledge can be empowering by allowing them to escape the cancers that have stricken other members of their family.

Ronald Bailey, science correspondent for Reason and author of Liberation Biology: The Scientific and Moral Case for the Biotech Revolution, recently posted “Bioethicists Can’t Handle the Truth,” in which he discussed the conundrum of testing for genetic markers for Alzheimer’s disease–likening the current state of affairs to the BRCA brouhaha of the late 1990s. Specifically, bioethicists and genetics professionals generally do not recommend testing for increased risk of Alzheimer’s disease because at this time medical science has no cure. Again, the rationale is paternalistic: If there is no treatment option, why subject individuals to the increased emotional stress of knowing they are likely to develop this disease?

This is a hot topic because knowing the content of your individual DNA genomic sequence is now affordable and widely available, made possible by major advances in technology and scientific knowledge over the past several years. We can all now spit into a test tube, mail it to any of a number of companies and receive a detailed report on everything from where your ancestors hail to your risk for heart disease, certain cancers and Alzheimer’s.

Science magazine hailed this technology as the “breakthrough of the year” in 2007. But, in fact, the “breakthrough” in personalized medicine came in 1994 with the discovery of BRCA1. This is why researchers and commentators are looking to the hereditary breast and ovarian cancer community for answers on how people cope with genetic knowledge; BRCA-mutation carriers are on the front line of personalized medicine.

But is knowledge of increased risk for breast and ovarian cancer really the same as knowing of an increased risk for Alzheimer’s disease?

No. Knowledge of a BRCA mutation provides a patient with options for avoiding disease development. Preventive surgery works for BRCA carriers: It reduces risk of disease development and improves a woman’s chances of living a long and healthy life. Even if patients choose surveillance for breast cancer over surgery, research shows that the disease is likely to be caught early and be curable. Breast MRI is so effective at detecting early breast tumors that Andrew D. Seidman, M.D., a member of the American Society of Clinical Oncology Cancer Communications committee has said:

The favorable overall survival in all high-risk groups reported suggests that careful MRI screening is not only superior to mammography alone, but may be an attractive alternative to risk-reducing prophylactic mastectomy for some women.

On the other hand, options for preventing Alzheimer’s if a patient knows she is at high risk are limited. The National Institute on Aging is blunt in its assessment: “No treatment has been proven to stop [Alzheimer’s disease].” Although considerable resources are being poured into Alzheimer’s research, there are also no quantitatively effective prevention strategies, although there are a number of drugs now available that may slow progress of the disease for a period of time.

Another reason that testing for genetic Alzheimer’s markers is different than BRCA testing concerns the tests’ ability to predict the disease. A woman who tests positive for a BRCA mutation knows, based on a decade and a half of research, that her risk of developing cancer falls within a well-defined if rather broad range–between 45 percent and 87 percent for breast cancer, and between 11 percent and 56 percent for ovarian cancer. Disease prediction with Alzheimer’s genetic markers, however, remains unclear as was discussed in “Genetic Markers for Alzheimer’s Disease: Are They Ready for Prime Time?“:

“Although the findings in this [new study in the journal Neurology] are of considerable interest, their application to everyday clinical practice is limited. For individuals seeking genetic information about Alzheimer’s disease, the predictive value is unclear. …”

As the burgeoning field of personalized medicine advances, both experts and the public will continue to look to the hereditary breast and ovarian cancer community as trailblazers in this brave new world. History will record that this community rose to the challenge presented by this new knowledge to improve their lives and limit the impact of two deadly diseases on this and future generations. And it will certainly record women’s courageous ability to handle the truth.

Comments

  1. Heather Lea Soersdal says:

    I will get tested for increased risk of breast and/or ovarian cancer if and when we move over to socialized medicine or some kind of law is passed preventing my insurance premiums from going up with my increased risk. As long as there are businesses that can potentially use the results of such a test as an excuse to rob me, I want no part of it.

  2. In my family, we thankfully have no history of breast or ovarian cancer. We do, however, have a strong history of colon cancer. As far as I know, there is no preventative measure that can 100% prevent me from developing colon cancer, minus removing my colon. I chose not to get tested for the syndrome that, if I inherited gives me an 80% chance of getting cancer.

    My doctor is of the complete opposite mind of these past doctors. He cannot believe that I don’t want to get tested. I didn’t even go to him about this, but to confirm a diagnosis of Irritable Bowel Syndrome. In his zeal to convince me that I should be undergoing expensive genetic testing (after getting my Nana with Alzheimer’s to do it first so they would know exactly which gene to look for), he gave me absolutely no advice about the IBS except to take a pill if I don’t have a bowel movement every day.

    I am neither for or against genetic testing. I believe that every person has the right to decide how to care for their own body. However, I am afraid that in some cases, genetic testing becomes the only advice a doctor has for a patient.

  3. I've got mixed feelings on these tests. My mom and grandma both had breast cancer and my mom was tested for the BRCA gene after she had a lumpectomy. She found that she did not have the gene. Basically, what she said to me was, "If you get breast cancer, now I know that it's not my fault!" So she felt better, and I still felt worried because a host of other factors have a larger effect on risk than genes. Just because I don't carry a gene doesn't mean I won't get cancer. But apparently now if I do get cancer, it's my "fault."

  4. Soccermominfl says:

    Everyone situation is so unique that it truly is up to the individual whther or not to test..As always a Certified Genetics Counselor is the first step in understanding risk VS. benefit in regards to genetic testing,
    Thanks for the well-written blog,Joi!

  5. After reviewing this article I felt the need to share my story regarding negative outcomes of my procedure" Nipple Sparing Mastectomy" and what I should and should not have done, with whom and my significant regret.
    This is an inreversiblility decision and because of this women need to be a well informed consumer and be diligent in finding the right surgeons. I thought I was well informed and my outcome would be as positive as every other women I have read about on numerous other health boards. However, my experience was less than optimal and left me with results that were less than adequate. When complementing a PNSM I would strongly suggest seeking generic testing along with psychological counseling first. In addition I would suggest seeking medical opinions from more than one surgeon. The surgeon in my opinion should offer you more than one option and the decision should be yours without any coherence from the surgeon. If it seems he or she is selling one surgery with one product you need to question the financial incentive the surgeon might have with the pharmecticial company be inquisitive not accusatory. As a well informed consumer do not be afraid to ask his or her interest in the company.
    If the surgeon does not have a protocol in place for the surgical procedure you are interested in for i.e. the importance of seeking genetic counseling before agreeing to perform any prophylactic mastectomy than I suggest seeking care from another physician. Your physician should give you all the information regarding the products he will use such as the type of implant and Alloderm along with the procedure itself. You should have full knowledge of both the adverse and contraindications of the products used again in respect to the implant and the Alloderm. Some physicians are less than forth coming regarding these issues. He or she needs to explain both the negative and positive outcomes of the surgical procedure but you the patient also need to know the questions to ask. The decision to have this procedure done should be dependent upon the the results of BRCA genetic testing. I did not have the BRCA test done nor was I encouraged to do so by physicians. They were very willingly to remove my breast without this test being preformed first. I now regret not having this done as I am sure my decision would have been so different. I have learned, to have your breast removed without seeking this test is a drastic step, one you can not undo after it is done.
    You should take your time and consider all options now available to you. PNSM with Alloderm is not the only option. I was recently informed by my PS this procedure can be preformed without the use of Alloderm. I unfortunately was not given this information by my initial surgeon regarding Alloderm and only later found out there are contraindications and adverse reactions regarding this product. I also have since learned there are numerous women who have had severe complications with this product. The end results for theses women was removal of there implants and the alloderm. I am one of those women and reconstruction is not a option for me at his time.
    My message to women is simply do you homework . Get the needed testing and counseling done and do not let the physician talk you into it with the famous line I received from my physician, " you need this done". Thank you for allowing me to share a little of my experience. The best to all…

  6. Actually, more that “woman can’t handle the truth” the problem is a different one (also, men can have BRCA mutations and increased risk for cancer too).

    Our understanding of complex genetics of cancer is rather limited and recommended precaution in BRCA case is very invasive one. The quote from 1998 conference is actually still pretty valid today although widespread clinical use is now happening, the reason being also PARP inhibitors, drugs that can target specifically cells with BRCA mutations, which offers not so invasive solution. Now when direct-to-consumer genetic testing became available, testing for serious conditions without a solid medical background and interpretation can create more troubles, regardles of gender. People who are not thouroughly informed, panic, spend months in stress or even want the most invasive measeures in fear awhile having no symptoms at all. In some cases, when fully assessed, invasive procedures still outweights the risks, in some other they may not.

    It’s still important to know, that all treatment protocols, decision algorithms and other were and still are, based on years of experience with only those people that come to medical attention, either have a family history or some early symptoms. We do not know that well how deadly these mutations are, when screened in a general population (this applies to all known genetic diseases, we find them in ill people only and check for absence in number of healthy people to validate, but this number is so little compared to the healthy majority off all people on this planet). People should have a right to decide about their prevention, and treatments based on genetic tests, but they can only make the right decision when completely informed. I fear most of the customers of genetic companies are not, and even some less experienced physicians may go to shortcut thinking with apparently healthy person with a positive genetic result (which is particulary dangerous because you take them for a work), because genetic layout of our bodies is very complex.

    If you have a family history and you test positive, then you are a very high risk, but when you are middle aged adult and no symptoms whatsoever, just the positive test… there is actually no easy guideline for that. Many genetic societies in Europe even don’t recommend testing without a medical reason or family history and strongly discourage from partial commercial testing, which may give a false feeling of safety. Financial interests of test providers and unfair advertising are also a concern.
    It is all linked to our limited understanding of genetics of cancers, and genetic interactions in general, rather than fear of people not handling it psychologically.

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