BRCA testing: Are the medical options sensible?

BRCA testing: Are the medical options sensible?

By | May 19, 2013 at 7:29 am | 9 comments | Science and Medical News | Tags: , ,

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With her letter published in the NY Times My Medical Choice Angelina Jolie bravely offered herself and her experience as a kind of case study. And now, as she probably expected, people from far and wide, medical professionals, geneticists, and the media are all wondering if “the most beautiful woman in the world” made the right choice by deciding to go under the knife.

In this medical professional’s opinion the answer is absolutely!—provided she was given all the nuanced details surrounding her medical situation and the various options she had available to her. And that’s where I feel something may have gone awry.

Though I’ve written extensively about genetics I am not a genetic counselor. I feel qualified to offer my perspective publicly because I do have almost 30 years experience reading scientific articles and drawing conclusions, and am compelled to offer my perspective because, when I look at the data, this is what I see:

Angelina Jolie's Choice BRCA Treatment options

It looks as though, if these sources are accurate, it appears there is little benefit, actually no benefit, to prophylactic mastectomy (prophylactic meaning to prevent ever developing cancer) over screening in terms of mortality.

This chart is intended solely to show people who have not been through the process that it’s a pretty close call and can not be an easy decision. It is not in any way intended to suggest Jolie made the wrong choice.

I would like to direct your attention to the medical system itself.

Time for a new approach?

As a medical professional, I’m observing that the culture of intervention in this country has evolved to such an extent that some who counsel patients through what could be the most challenging decision making period of their lives are presenting the most invasive options without hesitation and failing to present the least invasive. Hospitals and insurance plans have greased the rails that bring patients under the knife, meanwhile if anyone wants to learn about the proven benefits of diet and exercise they must do so without any professional guidance—at least none that insurance is going to cover.

Angelina Jolie wrote her article in the hopes that she would start a dialogue and her bravery—her willingness to share her feelings—certainly got our attention. I would like to see another kind of bravery take center stage: Someone in a position of power willing to challenge the status quo by initiating a dialogue on the power of our inborn biology to protect us from cancer.

There is good reason to believe, thanks to accumulating research, that the vast majority of women who do ultimately develop cancer (and we need to remember that Angelina Jolie did not herself yet have cancer) suffer not from a failure in their genes or the inevitability of their family history, but rather from a failure of their lifestyle and the inevitability of their daily choices to allow rogue cells to develop and flourish. And this means if we let a women walk out of our office without advising her of this newly understood reality—which is not an easy thing to do given the implications—we let a powerful opportunity for positive change slip through our fingers.

A Bold New Technology: Biology

For every woman diagnosed with a breast cancer, dozens more first faced down the potential diagnosis before ultimately learning that the biopsy was negative or the second mammogram came back normal and they dodged the bullet, at least for the time being. So each day around the country, as women leave the doctors office relived of their fear but still in the dark about our new understanding of cancer’s origins, hundreds of such opportunities are being lost. With healthcare costs spiraling upwards at a rate that is jeopardizing the entire concept of health insurance, the need for awareness of this new perspective about cancer seems urgent. Who is going to step up and push the conversation in this new direction?

Cancer is one of the most terrifying words I have to use while in a room with a patient. Those facing a possible diagnosis of cancer are some of the most anxious, sleep deprived patients I see, and breast cancer, with its connotations of disfigurement and its track record of removing young women from their families prematurely, is perhaps the most anxiety provoking. If anyone considers this her potential reality she quickly prepares to make radical changes. In fact, a radial change seems like the most logical reaction, the safest choice, in that it is the most guaranteed to make a clean break from the terrifying present. In the midst of all the jargon and push for immediate action from surgeons and other specialists, it is my constant challenge to make sure that the choices presented to my patients are framed up properly.

If we present the benefits of only the invasive options, then patients are going to make invasive choices first. And right now, I am not convinced that this habit of our current medical status quo is at all in keeping with the dictum primum non nocere: First do no harm.

REFERENCES and RELEVANT ARTICLES used in compiling data

On the need for genetic counseling before BRCA testing (see my second comment below)

Criteria doctors commonly use to decide if you are at high risk for breast cancer

Study Shows Mutations in BRCA Genes Don’t Influence Survival Rates

BRCA1 and BRCA2 Genes and Breast Cancer Survival

Ten- to Fourteen-Year Effect of Screening on Breast Cancer Mortality

Outcome of Preventive Surgery and Screening for Breast and Ovarian Cancer in BRCA Mutation Carriers

Long-term results of screening with magnetic resonance imaging in women with BRCA mutations.

Cancer statistics, 2013.

Prophylactic Mastectomy

Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group.

Breast cancer in 3,558 women: age as a significant determinant in the rate of dying and causes of death.

Risk-reducing strategies for women carrying brca1/2 mutations with a focus on prophylactic surgery

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9 Comments

  1. Grace/Dr.BG (10 months ago)

    Mastectomy is not without risks also. Upto 70% report chronic pain afterwards. And 10-15% of women have severe long-lasting pain.

    ‘What is the risk of complications following contralateral preventive mastectomies with breast reconstruction?
    Surgical complications and rates of additional surgery in breast reconstruction range from 10-50%.
    Implant reconstructions are associated with a higher risk of reoperations than tissue transfer reconstructions.
    Reoperations are performed for various reasons: postoperative complications (i.e. infections, hematomas etc.), implant-related issues, aesthetic concerns (non-implant related), etc. Implant contracture is the most common indication for reoperation.
    Most reoperations occur within the first year of the reconstruction.
    Chronic pain (persisting at least 2 years) after mastectomy and reconstruction is a frequent problem, affecting up to 70% of women. This can negatively impact on sleep (in 36% patients) and daily activities (in 22%). 10-15% of women can experience severe, long-lasting pain.’

    http://www.integrativeoncology-essentials.com/2013/05/the-rising-tide-of-the-contralateral-prophylactic-mastectomy-know-the-facts/

  2. Grace/Dr.BG (10 months ago)

    Hi Cate,

    Wonderful post!! We were supposed to have dinner when Dave Asprey was in town (Patrik, RIchard, etc). We missed ya!

    What I never hear in this discussion about BRCA is the faulty gene expression RE: lack of DNA corrections and increased DNA oxidative produces like 8-hydroxy 2′ deoxyguanosine, which there are many modalities to improve (anti-inflammatory low lectin diets, antioxidants, melatonin, vitamin C, polyphenols, berry extracts, etc).

    I was compelled to also dispel BRCA ‘mythology’….

    BRCA1/2 is a defect in DNA repair including lymphoblasts and fails to fix 8OHdG (oxidative DNA damage product, 8-hydroxy-2′deoxyguanosine)
    http://www.ncbi.nlm.nih.gov/pubmed/17288454

    BRCA1/2 raises risk in men of breast, prostate, pancreatic, gastric and hematologic cancers

    BRCA1/2 raises risk in women of breast (73%), ovarian (41%), colon (2-fold), pancreas (3-fold), stomach (4-fold) and fallopian tube (120-fold) cancers

    BRCA1/2 like all mutation genes is under epigenetically controlled regulation — for example, silencing of the gene occurs with polyaromatic hydrocarbons (pollution), insulin, and hypomethylation (lack of methyl donors — either depletion or dietary deficiency — or COMT, MTHFR, etc variants). Best food sourced methyl donors are methylB12, choline and methylfolates (free range egg yolks, liver, meat, seafood — sorry no plant sources you crazy vegans). Insulin 101: Insulin is a growth hormone and one function is to induce stimulation of female ovaries to increase testosterone secretion. Unfortunately, in both men and women, normal levels and excess testosterone may be converted into estrogens under insulin induction by P450-aromatase (aka, CYP19), in many tissues including fat tissues, breast cells, endothelial cells and prostate cells…. Certain gene variants accumulate significantly more estrogens than non-carriers (COMT, CYP19).
    Compared with noncarriers, women carrying at least one CYP19 8r allele had 20% higher estrone (P = 0.003), 18% higher estradiol (P = 0.02), and 21% higher free estradiol concentrations (P = 0.01). Women with the COMT Met/Met genotype had 28% higher 2-hydroxyestrone (P = 0.08) and 31% higher 16?-hydroxyestrone concentrations (P = 0.02), compared with Val/Val women. Cancer Epidemiol Biomarkers PrevJanuary 1, 2004 13; 94.

    BRCA1/2 silencing may be epigenetically avoided by diet, resveratrol and other antioxidants

    BRCA1/2 needs a genetic ‘cofactor’ like MTHFR, COMT, CYP19 (aromatase which converts testosterone to estrogens), CYP1B1 (pathway increases 16OHE1, estrogen carcinogen adduct) and CYP1A1 to be carcinogenic according to emerging evidence. These genetic polymorphisms are all related to raised toxic estrogen metabolites and creation of estrogen dominant states.

    Metametrix has the lab test for 8OHdG — ION and Organix… other labs also offer (urine, salivary).

    http://drbganimalpharm.blogspot.com/2013/05/the-great-cholesterol-fairy-tale.html

  3. Dr. Cate

    Dr. Cate (11 months ago)

    Genetic counseling is highly recommended prior to BRCA testing for a variety of reasons including future insurance implications for the individual being tested and their family members.

    This is an excerpt from an article written for physicians after Jolie’s letter was published.

    “It’s not something you want to automatically order,” agreed Dr. Madlensky, who says that ideally, patients should be screened in primary care for red flags that might suggest the need for referral to genetic counseling — even before a test is considered.

    “There are different types of BRCA testing, and knowing which one to order is a bit complicated, depending on ancestry, cancer diagnosis or not, known BRCA mutation in family or not,” she said, adding that a patient’s family history should not be taken at face value.

    “A lot of times, the story that is in the family is not accurate. Breast cancer reporting is pretty good, but when people report they had a relative with ovarian cancer, often when we try to get those records, we find it was not ovarian but cervical or uterine or something not related to the BRCA genes.”

  4. Deborah Gordon (11 months ago)

    Hi Cate, thought you would enjoy the heart felt point of view expressed by Peggy Orenstein in the NY Times magazine article about the pink-washing of breast cancer – here’s the link if you haven’t seen it http://www.nytimes.com/2013/04/28/magazine/our-feel-good-war-on-breast-cancer.html?ref=magazine

    In my own experience, personal and professional, I have been most impressed for screening on well-done (they are not all well done) thermograms – you have some good options in your area, Mill Valley specifically … what are your thoughts?

    • Dr. Cate

      Dr. Cate (10 months ago)

      Extraordinary summary. A long article but all pages are packed with powerful insights. Thank you for posting this!

  5. jen (11 months ago)

    While we will never know why she went down this path, I’d guess the loss of her mother was the true motivator. It’s true we are taught to live in fear of an array of diseases, especially cancer and then in particular, breast cancer for women. When you think about it though, we are taught to fear everything from childbirth, to kids being stolen, to unemployment, to dementia

    I would be interested to know if, in your practice, you recommend mammograms for women over 40.
    Thanks
    Jen

    • Dr. Cate

      Dr. Cate (11 months ago)

      I recommend starting at 40 for anyone who wants screening at that time, but explain the two primary reasons the schedule was scaled back from starting at 40 to starting at 50. 1: Radiation harms coronary arteries. And 2: Finding cancer early is not universally helpful, as once assumed, because the body can sometimes eradicate cancer when left alone.

      According to the country’s leading researchers in this field, one million women have been treated for cancer unnecessarily, meanwhile, some cancers seem to defy early detection with mammography. The practice changing article was published in the New England Journal of Medicine, entitled Effect of Three Decades of Screening Mammography on Breast-Cancer Incidence

      An excerpt from a related article interviewing these researchers follows (their work is largely responsible for the recent scaling back in the recommendations):

      “We need to start telling the truth,” said Welch. “We’ve promoted this as if it’s the most important thing a woman can do for her health. And the truth is that it’s a really close call.”

      Women in their 40s who feel comfortable getting annual mammograms should not be dissuaded from doing so, he said. “But women who have never felt good about it, who felt coerced into the procedure, should feel equally good about not having it.”

      Similarly, Welch said, women who do get screening mammograms and are found to have a tumor in a very early stage may want to consider alternatives to aggressive treatment — engaging in watchful waiting, for instance, or signing up for a clinical trial of drugs that may halt or slow the progression of cancer. Men have faced similar issues in deciding what to do about screening and treatment of prostate cancer, he said.

      “We should tell women about the trade-offs and we should allow them to make their own decision,” he said.

  6. Cassie Bond (11 months ago)

    I made a writing mistake, I meant to say she is now on morphine.

  7. Cassie Bond (11 months ago)

    A friend’s daughter, who is only 31 years, is now dying from breast cancer. I watched as she was told to go on the Paleo diet and really couldn’t adhere to it. I watched as she decided to get more and more Chemo even though there was not a chance of it working. So sad and it made her so sick. She is not on large amounts of morphine and walks around, when she can, like a zombie. It was initially given for her anxiety and now she is addicted to it also.

    Addiction to high carbohydrates foods are not to be sneezed at given that a young woman would choose chemo over having to change her diet. Just like the smoker who continues to smoke when they no longer can breathe because of emphysema they just are so addicted they can’t stop smoking.

    I am in Istanbul at the moment and as I watch these people from all over the world I am struck by one thing. They all have wheat belly. Practically every single one of them has that roll of fat, even on the young kids. Wheat in all its forms to eat, is what is seen everywhere I look. The sourdough method is no longer used and this makes it much worse.

    We need radical counselling to break free of the hypnotic spell we are all under.