Angelina Jolie’s double mastectomy and the question of who owns our genesBMJ 2013; 346 doi: https://doi.org/10.1136/bmj.f3340 (Published 22 May 2013) Cite this as: BMJ 2013;346:f3340
All rapid responses
We read with interest your article on Angelina Jolie’s decision to have bilateral prophylactic mastectomy and to plan for bilateral salpingo-oophorectomy as risk-reducing measures on discovering she has a BRCA 1 mutation.
Since Ms Jolie is based in the United States, much of what has been reported has an American slant. We were keen to clarify for your readers that gene testing for the BRCA 1 and 2 genes is available within the UK through the NHS to families with a strong history of breast or ovarian cancer.
There are 23 Regional Genetics Services in the UK, covering each geographic region, usually offering local clinics. Referrals of patients likely to have, or be at risk of, familial cancer are received from general practitioners and hospital health professionals. Individuals at moderately increased risk of breast or ovarian cancer are generally looked after within primary and secondary care.
BRCA gene testing is available to those patients assessed by their local Regional Genetics Service to have a high chance of having a BRCA 1 or 2 mutation, as stipulated by NICE guidance(1). In practice this means that the full BRCA 1 and 2 mutation screen is mainly offered to women actually affected by breast or ovarian cancer, who also have a strong family history of these cancers (for example; cases in multiple close relatives and/or at an unusually young age). If a BRCA 1 or 2 mutation is identified, predictive gene testing becomes an option for other family members, to clarify their own risks.
There is a substantial proportion of families who are deemed at ‘high risk’ but in whom no BRCA 1 or 2 mutation can be found. Sometimes other gene testing might be offered, depending on the family history.
A woman with a BRCA 1 mutation has a lifetime risk of breast cancer in the order of 80%. There is also an approximately 60% lifetime chance of developing a second breast cancer primary. Screening with MRI and/or mammography (age-dependent) is one option. An alternative is to take the route that Ms Jolie has chosen, which in the UK is quoted as reducing breast cancer risk to less than 10% when a BRCA 1 or 2 mutation is present.
A woman with a BRCA 1 mutation also has a circa 40% lifetime risk of developing ovarian cancer. The benefits of ovarian screening are unproven but currently the subject of a large UK research study, now closed to recruitment, called UK FOCSS (2). Surgical removal of the ovaries and fallopian tubes, however, reduces the risk of ovarian cancer in a woman with a BRCA 1 mutation to less than the population risk.
Genetic counselling is an integral and essential component of the gene testing pathway, so that individuals considering testing are fully informed about the potential advantages and disadvantages of testing. Currently UK insurance companies should not ask about predictive gene testing on application for life insurance up to £500,000 or critical illness insurance up to £330,000 as agreed by a UK Government Moratorium that will be due for review in 2017.
The NICE guidance for familial breast cancer is currently being reviewed and an update that may change testing eligibility is expected within the next month.
Alison Kraus & Julian Adlard
Cancer Genetics, Yorkshire Regional Genetics Service, UK
Competing interests: No competing interests
Sir, the recent announcement by a famous Hollywood star that she underwent bilateral prophylactic mastectomy on finding that she carries a germline alteration in the BRCA1 gene, has highlighted the potential benefits of genetic testing and appropriate risk reduction inventions to the prevention of breast and ovarian cancer. Sadly, although the BRCA1 and BRCA2 genes were discovered in the mid-1990’s, the options available to high-income, mostly Caucasian white populations, remain largely inaccessible to Asian populations. This letter, written on behalf of the Asian BRCA Consortium (ABRCA), summarises the status of genetic counseling, genetic testing and risk management in Asia and highlights the urgent need for action from governments, healthcare providers and researchers in order to address the disparities in care in hereditary breast and ovarian cancer.
It is estimated that at least 60% of the world’s 7 billion people are Asians, but yet less than 5% of the known BRCA carriers that have been identified are Asians . With the exception of Korea, where since 2008, genetic testing is reimbursed through national healthcare system, genetic testing in other Asian countries is only available in a few centres competing for limited healthcare funding, or for fee-paying patients, or through small research studies. Moreover, the lack of legal protection against genetic discrimination and limited availability of appropriately trained healthcare providers and established clinical referral routes also need urgent redress. The net result is that in 2012, of the approximately 350,000 newly diagnosed breast cancer patients in 12 Asian countries, of whom 15-30% may benefit from genetic counseling, it is estimated that less than 100 centres offered genetic counseling [of which 60 were in Japan and Korea], an estimated 1,500 women were offered genetic counseling and less than 500 were tested [testing in Korea accounts for more than half of the total].
In order to share knowledge of and improve the quality of hereditary breast and ovarian cancer patients in Asia, we have established the Asian BRCA consortium in October 2011. The consortium has members in 12 Asian countries and welcomes new members with a shared vision of collaborating for research in Asia. We urgently need to advocate for change in the legal protection against genetic discrimination, and to advocate that governments should at least pay for testing fees, surveillance and risk reducing strategies so that we are able to offer the best strategies for BRCA carriers regardless of where they live.
1. Consortium of Investigators of Modifiers of BRCA1 and BRCA2 Penetrance [CIMBA] database
Authors: ABRCA Consortium
1. Teo Soo Hwang (Malaysia) [firstname.lastname@example.org]
2. Kim Sung-Won (Korea) [email@example.com]
3. Ava Kwong (Hong Kong) [firstname.lastname@example.org]
4. Philip Iau (Singapore) [email@example.com]
5. Rajiv Sarin (India) [firstname.lastname@example.org]
6. Seigo Nakamura (Japan) [email@example.com] [firstname.lastname@example.org]
7. Shao Zhimin (China) [email@example.com]
8. Teguh Aryandono (Indonesia) [firstname.lastname@example.org]
9. Pimpicha Patmasiriwat (Thailand) [email@example.com]
10. Le Huang (Vietnam) [firstname.lastname@example.org]
11. Ophira Ginsburg (Bangladesh) [email@example.com]
12. Rodney Dofitas (Philippines) [firstname.lastname@example.org]
Asia is relatively densely populated but to date, there has been limited testing of BRCA1 and BRCA2 in Asian countries. This figure shows the population of the country (in millions) and the total number of BRCA1 and BRCA2 families (in whole numbers) in each of the Asian countries in the ABRCA consortium. [Map from worldmapper.com]
Competing interests: No competing interests
In his book “L’Uomo Delinquente” (Criminal Man), published for the first time in Italy in 1876, Cesare Lombroso (1), in line with the evolutionary and positivist doctrines that were dominant at the time when the founder of the so-called criminal anthropology had started his research, stated that "born criminals" could be identified by specific characteristic somatic features.
Based on this theory, once the "stigmata of degeneration" - such as, for example, a particular configuration of the ears or very large mandibles - have been identified in an individual, that individual would inevitably be a criminal.
At that time, that was an attempt to fulfill the desperate need to provide a biological, or rather pathological, explanation to the widespread phenomenon of delinquency.
The latest news regarding Angelina Jolie, the reasons that led her to undergo a double mastectomy and her subsequent statements where she said that she would be willing to undergo another mutilation, this time of her ovaries (2), immediately brought to the mind Lombroso's theory and his vain attempt to deal with the issue of delinquency by upholding the serious belief that the worse criminal acts are caused by predetermined biological-psychological processes.
After all, the clinical-biological explanation offered to justify the decision of sacrificing the healthy breasts of a young person, in the absence of neoplastic disease and even of in-situ histopathological alterations that could have been interpreted as precancerous, was based on the presumed predicting capability of a ... "delinquent" gene.
We believe that this, neo-lombrosian so to speak, approach to the diagnostic-therapeutic evaluation of a patient deserves some critical reflections.
Exactly one year ago, this prestigious journal published an article with the evocative title “Preventing overdiagnosis: how to stop harming the healthy” (3) that warned the medical world about the dangerous upward trend in overdiagnosis, which in turn inevitably triggers overtreatment. Drawing on a consideration made by the authors of that article, the increased incidence of thyroid tumors could be the unwanted effect of an excess of diagnostic ability.
The latter, in our opinion, is the adverse result of the progressive technologization of Medicine that, in order to ensure its survival, must feed the fears (by introducing new ones or extending the boundaries of the old ones) against which it is possible to receive protection by increasing the demand for medicalization on the part of society, according to mechanisms already anticipated by thinkers such as Hans Jonas (4) and Ivan Illich (5).
However, in the case of screenings for breast, prostate and thyroid tumor diseases, positive test results would anyway detect existing neoplastic diseases. If they are diagnosed as very-slow progressive cases, demolitive surgery would be a questionable choice if we take into consideration the life expectancy of each individual patient. Instead, in the case of Angelina Jolie, an additional step was taken: indeed, action was taken in the absence of disease on the base of an unfavorable prognostic indicator that would at most have reinforced the significance of an anamnestic information (the familiarity with genital neoplasia), but without any evidence of heteroplasia or precancerous conditions.
And the action that was consequently taken was not the administration of a vaccine, which usually involves healthy subjects and usually does not damage their anatomical-functional integrity, but has been instead the surgical sacrifice of healthy body parts.
Someone would say: also in cases of neoplastic disease, when the surgical option is pursued, we are forced to excise healthy tissue surrounding the neoplasia in order to ensure radicality. But in those cases, it is the evidence of an existing disease that justifies such an approach.
All this is lacking in Angela Jolie's story. And the decision, which was passed off as prophylactic, cannot even be defined as such because, based on the very data reported by the patient, there is still a 5% probability of future development of the disease. Moreover, irrespective of further comments on the actual predictive validity of the genetic test used, it is also not a prophylactic decision because, based on the same principle which justified the preventive demolitive approach followed in Angelina Jolie's case, we should reflect on what we would be willing to accept to prevent the certain future deterioration caused by a disease that is initially silent but whose evolution will be inevitably marked by the allelic hands of a clock called Huntington’s chorea.
The task of a Medicine that is not mythicizes has always been that of treating (and also preventing) disease, starting from the following premise: “first, do no harm!”
When confronted with a society that clearly does not accept the dimension of disease and even rejects the experience of the finite nature of human life by pursuing solutions, such as clonation, that are regarded as potentially capable of overcoming death, Medicine cannot lend itself to outline captivating scenarios that contribute to feed these illusions and end up by leading to choices that, in the absence of disease, produce new disease (as is the case of unnecessary mutilations), betraying the Hippocratic postulate.
However, if Medicine is not able to guarantee such a form of cultural resistance anymore, then we can just watch and worry about the destiny of patients that are left at the mercy of a flow of information that is so potentially devastating that it induced a woman as remarkable and renown as Angelina Jolie to decide that it is preferable to sacrifice her healthy breasts today; not to mention her announced intention to give up her ovaries in the near future instead of following the usual and consolidated approach based on regular clinical and diagnostic check-ups that would have most probably guaranteed that she would keep her ovaries healthy for the rest of her existence.
Now, based on these considerations, let us a final appeal to the woman to whom we have dedicated the title of our response.
Don't do it, Mrs. Jolie. We'll let the breasts pass, but definitely not the ovaries.
Don't go looking for utopian solutions to the problem of disease (of suffering, of aging and death) that, whether we like it or not, is consubstantial with our human condition.
Don't do it, because in this way you will demonstrate that you don't believe in the omnipotence of a Technological Medicine that, at the end, cannot even promise you a 100% result (except for that of the definitive loss of organs that are healthy at the moment).
Don't try to do it also to allow many of us to continue to strive to defend an ideal Medicine that cures diseases when they are there and that prevents diseases when they are not there yet, without causing additional damage.
Don't try it, for me, Angelina!
1. Lombroso C. L’uomo delinquente. Fratelli Bocca Torino editori, 1897;
2. Hurley R. Angelina Jolie’s double mastectomy and the question of who owns our genes. BMJ 2013;346:f3340;
3. Moynihan R, Doust J, Henry D. Preventing overdiagnosis: how to stop harming the healthy. BMJ. 2012 May 28;344:e3502;
4. Jonas H. Das Prinzip Verantwortung: Versuch einer Ethik für die technologische Zivilisation. Frankfurt/M., 1979;
5. Illich I. Medical Nemesis. J Epidemiol Community Health 2003;57:919-922.
Competing interests: No competing interests