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The Angelina Jolie effect
... Women with a family history of breast cancer were inspired by Angelina's story and empowering words that subsequently sparked media frenzy. In the weeks following Angelina's revelation she carried a BRCA1 mutation and underwent risk-reduction surgery; familial cancer centers in Australia were flooded with referrals from women, wanting information about their own cancer risks, and to know whether they too could be tested for Bthe breast cancer gene^ (James et al. 2013;Evans et al. 2014;O'leary 2013a, b;medical unit, ABC news blog 2013;James et al. 2013). This phenomenon became known as the BAngelina Jolie effect^(medical unit, ABC news blog 2013; James et al. 2013). ...
... Women with a family history of breast cancer were inspired by Angelina's story and empowering words that subsequently sparked media frenzy. In the weeks following Angelina's revelation she carried a BRCA1 mutation and underwent risk-reduction surgery; familial cancer centers in Australia were flooded with referrals from women, wanting information about their own cancer risks, and to know whether they too could be tested for Bthe breast cancer gene^ (James et al. 2013;Evans et al. 2014;O'leary 2013a, b;medical unit, ABC news blog 2013;James et al. 2013). This phenomenon became known as the BAngelina Jolie effect^(medical unit, ABC news blog 2013; James et al. 2013). ...
... In the weeks following Angelina's revelation she carried a BRCA1 mutation and underwent risk-reduction surgery; familial cancer centers in Australia were flooded with referrals from women, wanting information about their own cancer risks, and to know whether they too could be tested for Bthe breast cancer gene^ (James et al. 2013;Evans et al. 2014;O'leary 2013a, b;medical unit, ABC news blog 2013;James et al. 2013). This phenomenon became known as the BAngelina Jolie effect^(medical unit, ABC news blog 2013; James et al. 2013). ...
Global media has the power to influence the ways the public engage with health services. On May 14th 2013, Angelina Jolie published an article in the New York Times magazine, outlining her decision to undergo BRCA mutation testing due to a family history of cancer; then proceed with a mastectomy. The article evoked significant interest from the media and the public. During the months that followed, the Familial Cancer Program (FCP) at Genetic Services of Western Australia (GSWA) experienced a significant increase in referrals and enquiries. Resources were overstretched and it became clear we needed to adjust work practices to manage the escalating numbers. New strategies were devised to cope with the influx of enquiries, albeit without the benefit of additional resources. We conducted an audit of referrals to the FCP made between January 2012 and December 2014. This included a comparison of the months prior to and following the New York Times article. The aim of the audit was to quantify the impact of the “Angelina Jolie effect” on referrals to the FCP. Whilst the increased awareness of the role of genetic services in risk assessment and testing for familial breast and ovarian cancer was considered positive, pre-referral risk assessment at the primary health level to evaluate the appropriateness of their patients for referral could have been helpful. Potentially, many inappropriate referrals to FCP may have been avoided with primary health evaluation thus lessening the burden on our service and preventing unnecessary worry in well women who possessed minimal family history or risk factors. It is important to understand the factors driving the uptake of risk reduction activities, particularly if engagement with a genetics service is considered part of that pathway. Continued education about cancer risk due to family history, individual features and awareness surrounding genetic testing criteria, costs and availability is required for both the public and health professionals.
... In many cases, female BRCA carriers during their early reproductive years may opt for careful surveillance in order to delay prophylactic surgeries that would prevent them from having children. In 2013, the so-called "Angelina effect" sparked an acute public awareness of genetic testing for hereditary cancer risk genes, which may have resulted in many people undergoing unnecessary testing without significant associated risk factors such as a family history of unusually high cancer incidence [78,79]. In a worst-case scenario, a recent article in the Wall Street Journal described a family where multiple women underwent prophylactic surgeries based on a "likely" pathogenic BRCA VUS finding that was later re-classified as a benign variant (https://www.wsj.com/articles/seven-women-in-a-family-chose-surgery-aftera-genetic-test-then-the-results-changed-11576860210, ...
... Not only does the patient now know their BRCA2 gene is not normal (deviates from the wild-type sequence), the clinical significance of the VUS findings are rarely known, leaving the patient with unknown future cancer risk. Universally accepted standards for how to deal with BRCA VUS have yet to be established, revealing a shortcoming in our ability to make informed clinical decisions [78][79][80]. Thus, it is critical that genetic counselors have the ability to intercede and minimally inform patients of their options thus that rational choices can be made. ...
Pathological mutations in homology-directed repair (HDR) genes impact both future cancer risk and therapeutic options for patients. HDR is a high-fidelity DNA repair pathway for resolving DNA double-strand breaks throughout the genome. BRCA2 is an essential protein that mediates the loading of RAD51 onto resected DNA breaks, a key step in HDR. Germline mutations in BRCA2 are associated with an increased risk for breast, ovarian, prostate, and pancreatic cancer. Clinical findings of germline or somatic BRCA2 mutations in tumors suggest treatment with platinum agents or PARP inhibitors. However, when genetic analysis reveals a variant of uncertain significance (VUS) in the BRCA2 gene, precision medicine-based decisions become complex. VUS are genetic changes with unknown pathological impact. Current statistics indicate that between 10–20% of BRCA sequencing results are VUS, and of these, more than 50% are missense mutations. Functional assays to determine the pathological outcome of VUS are urgently needed to provide clinical guidance regarding cancer risk and treatment options. In this review, we provide a brief overview of BRCA2 functions in HDR, describe how BRCA2 VUS are currently assessed in the clinic, and how genetic and biochemical functional assays could be integrated into the clinical decision process. We suggest a multi-step workflow composed of robust and accurate functional assays to correctly evaluate the potential pathogenic or benign nature of BRCA2 VUS. Success in this precision medicine endeavor will offer actionable information to patients and their physicians.
... tralian BRCA mutation carriers.38 At 3-year follow-up from genetic testing, 5.2% (7/134) had undergone BPM at a mean age of40 and 16.3% (20/123) had undergone BSO at a mean age of 47 years. Metcalfe et al reported on large differences in the uptake of BPM according to country of residence, with uptake rates varying from 2.7% in Poland to 36.3% in the United States. ...
... 39 The BPM uptake rate of 27.1% in BRCA mutation carriers in our study cohort is comparable to Western European countries (eg, France: 25%), but is higher than the rate reported by Phillips et al, including Australian women who indicated their uptake of BPM and BSO between 2001 and 2005. Several researchers, for example, James et al,40 Evans et al,41 and Liede et al,42 have shown that after Angelina Jolie disclosed that she is a BRCA1 mutation carrier and opted to have a BPM, there was a significant, long-lasting, and global increase in genetic testing and mastectomy rates since 2013.The different analysis periods may have had an impact on the BPM and BSO rates. Considering the reduction in clinical benefit of BPM with increasing age, the fact that 66.7% of the BRCA1 mutation carriers who underwent BPM at the BOCRMC were older than 35 years at the time of the procedure is of concern.Evans et al reported on the uptake of risk-reducing surgery among 3515 women with no known BRCA1/2 mutation from England.43 ...
Objectives
The value of a high‐risk surveillance program for mutation carriers and women at high familial breast cancer risk has not been extensively studied. A Breast and Ovarian Cancer Risk Management Clinic (BOCRMC) was established at the Royal Melbourne Hospital in 2010 to provide multimodality screening and risk management strategies for this group of women. The aims of this study were to evaluate the program and describe breast cancer diagnoses for BRCA1 , BRCA2 , and other germline mutation carriers as well as high‐risk noncarriers attending the BOCRMC.
Methods
Clinical data from mutation carriers and noncarriers with a ≥25% lifetime risk of developing breast cancer who attended between 2010 and 2018 were extracted from clinic records and compared. The pattern and mode of detection of cancer were determined.
Results
A total of 206 mutation carriers and 305 noncarriers attended the BOCRMC and underwent screening on at least one occasion. Median age was 37 years. After a median follow‐up of 34 months, 15 (seven invasive) breast cancers were identified in mutation carriers, with seven (six invasive) breast cancers identified in noncarriers. Of these, 20 (90.9%) were detected by annual screening, whereas two (9.1%) were detected as interval cancers (both in BRCA1 mutation carriers). Median size of the invasive breast cancers was 11 mm (range: 1.5‐30 mm). The majority (76.9%) were axillary node negative. In women aged 25‐49 years, the annualized cancer incidence was 1.6% in BRCA1 , 1.4% in BRCA2 mutation carriers, and 0.5% in noncarriers. This compares to 0.06% annualized cancer incidence in the general Australian population.
Conclusions
Screening was effective at detecting early‐stage cancers. The incidence of events in young noncarriers was substantially higher than in the general population. This potentially justifies ongoing management through a specialty clinic, although further research to better personalize risk assessment in noncarriers is required.
... Enthusiasm among health-care providers for the implementation of population-based HBOC gene testing is growing in tandem with increasing community knowledge of HBOC testing, particularly through key celebrity informants. 31 Future implementation of this model requires evidence of its social and clinical implications as well as the development of a cost-effective, equitable framework to inform policy decisions. It has been suggested that BRCA1/2 genetic testing should be offered to all women living in the United States at age 30 before PV carriers are likely to develop cancer. ...
... This is not unexpected because FCCs are increasingly contacted by women requesting and self-funding genetic testing, even in the context of a low familial risk. 31 Easily accessible and affordable clinical guidance on how to interpret and contextualize the information is required to reduce adverse outcomes and unrealistic expectations. 30 An important concern regarding population-based testing is how to deal with VUS. ...
Purpose:
The identification of carriers of hereditary breast and ovarian cancer (HBOC) gene variants through family cancer history alone is suboptimal, and most population-based genetic testing studies have been limited to founder mutations in high-risk populations. Here, we determine the clinical utility of identifying actionable variants in a healthy cohort of women.
Methods:
Germline DNA from a subset of healthy Australian women participating in the lifepool project was screened using an 11-gene custom sequencing panel. Women with clinically actionable results were invited to attend a familial cancer clinic (FCC) for post-test genetic counseling and confirmatory testing. Outcomes measured included the prevalence of pathogenic variants, and the uptake rate of genetic counseling, risk reduction surgery, and cascade testing.
Results:
Thirty-eight of 5908 women (0.64%) carried a clinically actionable pathogenic variant. Forty-two percent of pathogenic variant carriers did not have a first-degree relative with breast or ovarian cancer and 89% pursued referral to an FCC. Forty-six percent (6/13) of eligible women pursued risk reduction surgery, and the uptake rate of cascade testing averaged 3.3 family members per index case.
Conclusion:
Within our cohort, HBOC genetic testing was well accepted, and the majority of high-risk gene carriers identified would not meet eligibility criteria for genetic testing based on their existing family history.
... On May 14th 2013, Angelina Jolie (AJ) announced in The New York Time that she is carrying a BRCA1 mutation and therefore she underwent a prophylactic bilateral mastectomy. The following enormous media attention caused an increased interest and awareness on the topic of HBOC which is called the "Angelina Jolie effect" [20]. This effect led to an increase of referrals for genetic counseling and testing [21][22][23][24]. ...
... Since AJ published in social media that she is carrying a BRCA mutation and therefore had a bilateral prophylactic mastectomy, interest on genetic counseling and HBOC increased enormously at our institution. This finding is consistent with already published data showing that AJ's disclosure led to an increased global interest and awareness on HBOC, BRCA gene mutations and genetic counseling for HBOC the so-called "Angelina Jolie Effect" [20,21,23]. Similar "Celebrity" effects have [34]. ...
Background:
The purpose of this study was to evaluate socio-demographic characteristics of clients claiming genetic counseling for hereditary breast and ovarian cancer (HBOC) in Austria. Furthermore, changes of these parameters before and after Angelina Jolie's (AJ) disclosure of carrying a BRCA mutation were evaluated.
Methods:
In this prospective, nonrandomized study 268 consecutive clients seeking genetic counseling for HBOC at the Medical University of Vienna, Department of Obstetrics and Gynecology, Vienna, Austria between June 2012 and June 2014 were included. Socio-demographic data and source of information about HBOC and genetic counseling were evaluated. First, socio-demographic parameters were compared to the general Austrian population. Second, changes in these parameters after AJ's public disclosure of carrying a BRCA mutation were analyzed.
Results:
Subjects were more frequent female, younger and higher educated in comparison to Austria's general population (p < 0.001). Furthermore, level of education in participants was higher before than after AJ's disclosure (p = 0.046). Most clients were informed about genetic counseling by physicians. As expected, after AJ's public announcement patients were more frequent advised to genetic counseling by social media (p = 0.043) and family or friends (p = 0.010) than before.
Conclusions:
In this present study we could demonstrate that particularly younger and female participants with high educational level attended significantly more often genetic counseling for HBOC. Increased presence of HBOC in media since AJ's disclosure of carrying a BRCA mutation had lead that information and awareness about HBOC was obtained by a wider audience from different social background.
... May 2013, acclaimed actress and philanthropist Angelina Jolie published an op-ed piece in The New York Times in which she shared her decision to undergo a prophylactic bilateral mastectomy after learning that she had a deleterious BRCA1 mutation. 1 Jolie's announcement spawned a sudden and profound media response, [2][3][4][5][6] with her face adorning the cover of both Time and People in the following weeks and much reference to the "Angelina effect. " The announcement was reported as the most blogged about medical topic in the past 5 years. ...
... " The announcement was reported as the most blogged about medical topic in the past 5 years. 7 Referrals to cancer genetics clinics increased by twofold to threefold after Jolie's disclosure, 3,[8][9][10][11][12][13][14] with some clinics pleading for additional resources. 15 Increases in information seeking have been observed after health-related disclosures by other celebrities. ...
Purpose:
On 14 May 2013, actress Angelina Jolie disclosed that she had a BRCA1 mutation and underwent a prophylactic bilateral mastectomy. This study documents the impact of her disclosure on information-seeking behavior, specifically that regarding online genetics and risk reduction resources available from the National Cancer Institute.
Methods:
Using Adobe Analytics, daily page views for 11 resources were tracked from 23 April 2013 through 25 June 2013. Usage data were also obtained for four resources over a 2-year period (2012-2013). Source of referral that viewers used to locate a specific resource was also examined.
Results:
There was a dramatic and immediate increase in traffic to the National Cancer Institute's online resources. The Preventive Mastectomy fact sheet received 69,225 page views on May 14, representing a 795-fold increase as compared with the previous Tuesday. A fivefold increase in page views was observed for the PDQ Genetics of Breast and Ovarian Cancer summary in the same time frame. A substantial increase, from 0 to 49%, was seen in referrals from news outlets to four resources from 7 May to 14 May.
Conclusion:
Celebrity disclosures can dramatically influence online information-seeking behaviors. Efforts to capitalize on these disclosures to ensure easy access to accurate information are warranted.
... Consequently, breast cancer surgery de-escalated from radical mastectomy to sectorial resections, while axillary management was de-escalated from standard axillar lymph node dissection to sentinel node dissection, so decreasing the rates of un-necessary lymph node dissections [1][2][3]. Meanwhile, breast cancer diagnosis at younger ages conducted to a higher rate of genetic testing and identification of a higher number of genetic mutation carriers, the most frequently incriminated ones being represented by BRCA 1/2 mutations; in such cases prophylactic mastectomy has been broadly demanded, the process being also known as "Angelina Jolie phenomenon" [5][6][7]. However, in young patients who desire prophylactic mastectomy and in which this surgical procedure is performed after a careful investigation of the medical record, a subcutaneous resection is the option of choice, followed by reconstruction. ...
... An increased demand for specialized breast cancer services has been reported worldwide, after the Angelina Jolie Effect. 14 In addition, studies have shown a trend towards a progressive increase in bilateral risk-reducing NSM and contralateral NSM in patients who have already undergone mastectomy for cancer treatment. 15,16 A recent study has further demonstrated a growth trend in the indication of NSM, not only for risk-reduction, but also for treatment of larger tumors. ...
Introduction: Nipple-Sparing Mastectomy (NSM) is increasingly indicated for therapeutic and prophylactic purposes due to better cosmetic results with nipple maintenance. Postoperative complications have not been compared among patients who have undergone simultaneous therapeutic and contralateral prophylactic NSM. The aim of the present study was to evaluate the incidence and risk factors for postoperative complications in bilateral/unilateral NSMs, and therapeutic and/or prophylactic NSMs. Methods: Retrospective study of patients who underwent NSM between 2007 and 2017 at A.C. Camargo Cancer Center. Results: Among 290 patients, 367 NSMs were performed, 64 simultaneous therapeutic and contralateral prophylactic NSM. The latter were associated with more postoperative complications (OR=3.42; p=0.002), mainly skin flap necrosis (OR=3.79; p=0.004), hematoma (OR=7.1; p=0.002), wound infection (OR=3.45; p=0.012), and nipple-areola complex (NAC) loss (OR=9.63; p=0.003). Of the 367 NSMs, 213 were unilateral NSMs, which were associated with lower rates of postoperative complications (OR=0.44; p=0.003), especially skin flap necrosis (OR=0.32; p=0.001), hematoma (OR=0.29; p=0.008), wound infection (OR=0.22; p=0.0001), and reoperation (OR=0.38; p=0.008). Obesity was related to more postoperative complications (OR=2.55; p=0.01), mainly hematoma (OR=3.54; p=0.016), reoperation (OR=2.68; p=0.023), and NAC loss (OR=3.54; p=0.016). Patients’ age (p=0.169), their smoking status (p=0.138), breast ptosis (0.189), previous chest radiotherapy (p 1), or previous breast surgery (p=0.338) were not related to higher chances of postoperative complications. Conclusions: Results suggest that performing therapeutic and contralateral prophylactic NSM as separated procedures may represent a good strategy for minimizing postoperative complications.
... In recent years, familial cancer centres (FCCs) have experienced increased demand on their services, initially in response to the raised awareness of the BRCA1 and BRCA2 genes in the wake of increased media attention surrounding Angelina Jolie's disclosure of having a BRCA1 pathogenic variant in 2013 [1]. The growth in demand has continued with falling costs of genetic testing, improved funding for genetic testing in the healthcare system [2] and the development of novel treatment implications for cancers that occur in individuals with a germline pathogenic variant (PV)meaning variants classified as either class 4, likely pathogenic, or class 5, pathogenic, under the ACMG/AMP guidelines [3][4][5]. ...
The demand for genetic testing of hereditary breast cancer genes such as BRCA1 and BRCA2 has continued to increase with the lowering costs of testing, raised awareness in the general public, and implications for breast cancer treatment when a patient is identified as having a germline pathogenic variant. Historically within Australia, patients affected by high genetic risk breast cancers have been referred to a familial cancer centre (FCC) for assessment and testing, resulting in wait times for an appointment for pre- and post-test genetic counselling and an increased demand on the public-funded FCC. To improve patient access and pace of genetic testing, as well as refocus FCC resources, a mainstream clinical genetic testing program was rolled out in September 2017 through the Parkville FCC (PFCC) in Australia at 10 hospital sites. This program enables specialist doctors of eligible patients affected by breast cancer to arrange genetic testing directly at an oncology/surgical appointment and follow up the results as part of the patients’ routine clinical care. In this model, the specialist doctor is responsible for any treatment implications of the genetic test result, and the PFCC is responsible for result interpretation, future cancer risk, family cascade testing and segregation testing where warranted. To date the program has had successful uptake, a notable pathogenic variant detection rate, reduced the burden on the PFCC enabling a reallocation of resources and has streamlined the process of genetic testing for eligible patients. Investigation into the patient and clinician experiences of the mainstream program is required.
... actress Angelina Jolie). [93][94][95] Another behavioural strategy to increase risk perception and reduce indoor tanning could be the mandatory display of strong images of the detrimental effects of sunbed use (skin ageing and cancer) in tanning centres. 96 It has been demonstrated that relevant and vivid pictures on cigarette packages are significantly more effective in communicating health messages and have greater ability to stimulate cognitive processes than text-only messages. ...
Although exposure to indoor tanning has been established as a clear risk factor for skin cancer, sunbeds are still commonly used in Europe. Understanding the determinants of sunbed use in Europe is key to plan educational interventions, behavioural strategies and legislative measures, which should be tailored to subgroups with different risk profiles. Evidences show that the typical sunbed users in Europe are young‐adult women, with intermediate skin type, a current employment and a medium/high socio‐economic status. Typical users display sun‐seeking behaviours and other risky behaviours such as smoking. Indoor tanning seems more common in northern than southern Europe. However, sunbed use remains common in fair‐skinned individuals and among adolescents/pre‐adolescents. Commonly reported reasons for sunbed use in Europe include aesthetic motives (i.e. looking attractive), the pursue of a prevacation tan, the influence of peers/parents engaging in the same habit, and the treatment of health conditions. The most commonly reported places to get an artificial tan in Europe are tanning studios and beauty salons. However, sunbeds are also available in sport venues, such as swimming pools and gyms, hotels and private houses. All these factors should be taken into account when planning educational, behavioural and legislative interventions to reduce the popularity of artificial tanning in Europe.
... Such strong acceptance by women is notably common, as famously exemplified by the actions (bilateral mastectomy) of an American actress, Angelina Jolie, in reducing her risks of breast cancer after discovering she had BRCA1 gene mutation. The "Angelina effects" that followed have not only created a global surge in public awareness of breast cancer susceptibility genes and familial cancer but have significantly increased similar behavioural change among women [28][29][30]. In the Asian context, there is a sharp rise among Korean women in the uptake of genetic testing and the resolve towards risk-reducing measures (salpingooophorectomy and contralateral prophylactic mastectomy) among those found to have genetic mutations associated with hereditary breast and ovarian cancer [31]. ...
Genetic risk to cancer is a knowledge largely confined to experts and the more educated sectors of the developed western countries. The perception of genetic susceptibility to cancer among the masses is fragmented, particularly in developing countries. As cancer diseases affect developing countries as much as developed nations, it is imperative to study perception and reception of genetic risk to cancer in Southeast Asia. Here, we report on a novel case study to gauge the awareness and attitudes towards genetic determination of cancer among the undergraduates of a Malaysian public university. A total of 272 university undergraduate students completed an online questionnaire. On causes of cancer, the respondents believed that cancer is caused by lifestyle and environmental factors, but those with science background were more likely to associate it with genetic factors. The results on awareness of genetic profiling of cancer risk showed that there are significant differences between those with science and nonscience background but there are no significant differences for gender and socioeconomic background. As for attitudes towards cancer risk, female respondents, those from middle socioeconomic status and science background, are more likely to believe in genetic determinism of cancer. The findings have implications on target population segmentation in strategic health communication on cancer.
... 14 This media coverage of Ms. Jolie's decision was reported to have prompted a significant increase in breast screen- ing and referrals for genetic testing among women glob- ally and is now dubbed the "Angelina Jolie effect." 14,15 Purpose Previous studies have investigated cancer information seeking, cancer worry, and risk mostly among cancer patients and their families 16-21 but, to the best of our knowledge, no studies have examined the general representative U.S. population. In this study, we inves- tigate whether actively seeking cancer information will increase individuals' perceptions of cancer fatality, life- time risk perception, and cancer worry. ...
Background: Information seeking is crucial in the health behavior context. Cancer information seeking may play a key role in individuals’ perceptions and subsequent health behaviors. Purpose: The purpose of this study is to investigate the influence of cancer information seeking on perceptions of cancer worry, fatalism and risk. Methods: Data from the 2014 U.S. Health Information and National Trends Survey were used. Fatality index, lifetime risk perceptions, and cancer worry were dependent variables. Each model included cancer information seeking as the independent variable, controlling for the demographic variables (age, gender, education, income, ethnicity, and marital status), body mass index (BMI), and cancer family history. Results: A majority were females (59.76%; n = 1856). The mean age was 53 and most participants were white (52.19%). A majority had a bachelor’s degree or higher (40.11%), and 40.2% were actively seeking information on cancer. Results show that information seeking was a significant predictor of lifetime risk perceptions (β = 0.079, R² = 0.105, P < .001) and cancer worry (β = 0.129, R² = 0.081, P < .001). Discussion: Active cancer information-seekers were more likely to worry about getting cancer and perceive that they had a greater chance to get cancer. Translation to Health Education Practice: Health Educators are encouraged to pay closer attention to how cancer information is framed to ensure that information elicits health-enhancing attitudes and behaviors.
... Subsequently, Angelina Jolie, an actress from the United States, publicized her story of having a BRCA1 mutation and her experience of undergoing bilateral risk-reducing mastectomy in May 2013. After her announcement, public awareness of breast cancer susceptibility genes and familial cancer increased, the so-called "Angelina effect" [3,4]. We conducted a survey to investigate the influence of the "Angelina effect" on practice patterns for HBOC in Korea and also reviewed national data of BRCA gene test prescription. ...
Lack of awareness, the stigma of carrying a genetic mutation, and economic factors are barriers to acceptance of BRCA genetic testing or appropriate risk management. We aimed to investigate the influence of Angelina Jolie's announcement of her medical experience and also health insurance reimbursement for BRCA gene testing on practice patterns for hereditary breast and ovarian cancer (HBOC). A survey regarding changes in practice patterns for HBOC before and after the announcement was conducted online. The rate of BRCA gene testing was obtained from the National Health Insurance Review and Assessment Service database. From May to August 2016, 70 physicians responded to the survey. Genetic testing recommendations and prophylactic management were increased after the announcement. Risk-reducing salpingo-oophorectomy and contralateral prophylactic mastectomy was significantly increased in BRCA carriers with breast cancer. The BRCA testing rate increased annually. Health insurance and a celebrity announcement were associated with increased genetic testing.
... dziedziczne. Zjawisko to zostało nazwane "efektem Angeliny Jolie" [14]. ...
... Teve ampla divulgação a publicação, pelo jornal norte-americano The New York Times, em maio de 2013, de que a atriz Angelina Jolie foi operada de mastectomia bilateral profilática devido ao fato de ter uma história familiar de CM e mutação do gene BRCA1, o que levou muitas mulheres a procurar aconselhamento médico para saberem sobre seus riscos de desenvolvimento da doença. Publicações surgiram em bases de dados e esse movimento foi chamado "efeito Angelina Jolie" [2][3][4][5][6] . ...
... In one recent well-studied case, the celebrity actor-director Angelina Jolie-who is neither a physician nor a medical researcher-wrote a New York Times OP-ED about her decision to get a double mastectomy after finding out that she had a genetic variant associated with an increased risk for breast cancer. Angelina's OP-ED initiated a flood of thousands of women seeking genetic screenings for breast cancer at clinics and on helplines in the UK, USA, Australia, New Zealand and Canada [52,53]. This flood continued for over six months. ...
Anthropological evidence from diverse societies suggests that prestige-based leadership may provide a foundation for cooperation in many contexts. Here, inspired by such ethnographic observations and building on a foundation of existing research on the evolution of prestige, we develop a set of formal models to explore when an evolved prestige psychology might drive the cultural evolution of n-person cooperation, and how such a cultural evolutionary process might create novel selection pressures for genes that make prestigious individuals more prosocial. Our results reveal (i) how prestige can foster the cultural emergence of cooperation by generating correlated behavioural phenotypes, both between leaders and followers, and among followers; (ii) why, in the wake of cultural evolution, natural selection favours genes that make prestigious leaders more prosocial, but only when groups are relatively small; and (iii), why the effectiveness of status differences in generating cooperation in large groups depends on cultural transmission (and not primarily on deference or coercion). Our theoretical framework, and the specific predictions made by these models, sketch out an interdisciplinary research programme that cross-cuts anthropology, biology, psychology and economics. Some of our predictions find support from laboratory work in behavioural economics and are consistent with several real-world patterns. © 2015 The Author(s) Published by the Royal Society. All rights reserved.
... Female carriers with pathogenic variants can make informed decisions about prophylactic surgery or intensified screening programmes. High-profile media coverage increases patient expectations from genetic testing [5,6]. The indications for germline genetic testing for BRCA1 and BRCA2 are further increasing to include directing cancer chemotherapy, novel targeted treatments and informing choices about the extent of therapeutic surgery [7][8][9]. ...
Increasing use of BRCA1/2 testing for tailoring cancer treatment and extension of testing to tumour tissue for somatic mutation is moving BRCA1/2 mutation screening from a primarily prevention arena delivered by specialist genetic services into mainstream oncology practice. A considerable number of gene tests will identify rare variants where clinical significance cannot be inferred from sequence information alone. The proportion of Variants of Uncertain clinical Significance (VUS) is likely to grow with lower thresholds for testing and laboratory providers with less experience of BRCA. Most VUS will not be associated with a high risk of cancer but a misinterpreted VUS has the potential to lead to mismanagement of both the patient and their relatives.
Members of the Clinical Working Group of ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) global consortium (www.enigmaconsortium.org) observed wide variation in practices in reporting, disclosure and clinical management of patients with a VUS. Examples from current clinical practice are presented and discussed to illustrate potential pitfalls, explore factors contributing to misinterpretation, and propose approaches to improving clarity.
Clinicians, patients and their relatives would all benefit from an improved level of genetic literacy. Genetic laboratories working with clinical geneticists need to agree on a clinically clear and uniform format for reporting BRCA test results to non-geneticists. An international consortium of experts, collecting and integrating all available lines of evidence and classifying variants according to an internationally recognized system will facilitate reclassification of variants for clinical use.
© The Author 2015. Published by Oxford University Press on behalf of the European Society for Medical Oncology. All rights reserved. For permissions, please email: journals.permissions@oup.com.
... This caveat is enhanced by evidence of rising bilateral mastectomy rates for breast cancer treatment in the last decade, in the absence of any survival benefit [44][45][46]. Moreover, a recent celebrity disclosure of BRCA1 mutation carriage and prophylactic mastectomy has precipitated public demand for genetic testing [47][48][49], a phenomenon that compounds the danger of excessive intervention. ...
To summarize advances in next-generation sequencing and their application to breast and gynecologic cancer risk assessment.
Next-generation sequencing panels of 6-112 cancer-associated genes are increasingly used in patient care. Studies report a 4-16% prevalence of mutations other than BRCA1/2 among patients who meet evidence-based practice guidelines for BRCA1/2 testing, with a high rate (15-88%) of uninterpretable variants of uncertain significance. Despite uncertainty about results interpretation and communication, there is early evidence of a benefit from multiple-gene sequencing panels for appropriately selected patients.
Multiple-gene sequencing panels appear highly promising for the assessment of breast and gynecologic cancer risk, and they may usefully be administered in the context of cancer genetics expertise and/or clinical research protocols.
... We also know from our daily conversations with breast cancer patients that the publicising of Angelina Jolie's procedure in the first half of 2013 had a big impact. An immediate implant-based reconstruction involving mastectomy in which skin and nipple are preserved is more well known since then, so much so that some practitioners even speak of an ''Angelina Jolie effect'' [24]. ...
Introduction:
Due to the fact that the number of breast implant surgeries for cosmetic and medical purposes is rising yearly, a discussion about the quality of service for both patients and physicians is more important than ever. To this end, we reviewed the Austrian Breast Implant Register with one specific question in mind: What are the trends?
Materials and methods:
In the statistical analysis of the Austrian Breast Implant Register, we were able to identify 13,112 registered breast implants between 2004 and 2012. The whole dataset was then divided into medical and cosmetic groups. We focused on device size, surface characteristics, filling material, device placement and incision site. All factors were considered for all examined years.
Results:
In summary, the most used device had a textured surface (97 %) and silicone gel as the filling material (93 %). The mean size of implants for the cosmetic group was 240 cc, placement was submuscular (58 %) and the incision site was inframammary (67 %). In the medical group, the mean size was 250 cc. Yearly registrations had their peak in 2008 (1,898 registered devices); from this year on, registrations decreased annually. A slight trend away from subglandular placement in the cosmetic group was noted. Also, the usage of implants with polyurethane surface characteristics has increased since 2008. The smooth surface implants had a peak usage in 2006 and their usage decreased steadily from then on whereas the textured surface was steady over the years.
Discussion and conclusion:
Keeping the problems related to the quality of breast implants in mind, we could recommend an obligatory national register. Organisations of surgeons and governments should develop and establish these registers. Furthermore, an all-encompassing international register should be established by the European Union and the American FDA (Food and Drug Administration); this might be useful in comparing the individual country registers and also would help in delivering "evidence based" medicine in cosmetic and medical procedures.
Level of evidence v:
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Objective
Mainstreaming is a model of care where non-genetics health professionals offer genetic testing directly to patients. This study aimed to evaluate the patient experience of the Parkville Familial Cancer Centre (FCC) breast cancer mainstream program.
Methods
A sequential mixed methods approach using a cross-sectional survey followed by qualitative interviews was adopted. Psychosocial outcomes included participants’ genetics knowledge, decision regret, impact of test result, adaptation to genetic information, and family communication. Descriptive and comparative analysis compared participant outcomes according to receipt of genetic counselling. Deductive content analysis using a pre-defined codebook was used to analyse the interview data.
Results
68 participants completed the online survey, with no significant difference observed depending on receipt of genetic counselling when it came to decision regret, cancer risk perception and adaptation to genetic test result. 20 participants were interviewed and reported a preference for mainstreaming over the traditional genetics service model of care.
Conclusion
This study demonstrates that while patients preferred the mainstream model of care, it is crucial to involve an FCC to ensure limited genetic counselling resources are provided to the most necessary patients.
Practice Implications
Breast cancer mainstream programs should include an FCC to provide genetic counselling for high-risk patients.
Increasing demand for clinical genetic services may impact the resources and quality of genetic counseling, potentially impacting patient outcomes. Using a psychosocial screening tool may aid the provision of genetic counseling by reliably identifying patients’ psychosocial needs. The Genetic Psychosocial Risk Instrument (GPRI) is a validated genetic‐specific screening tool designed to identify psychological risk factors that predict distress in patients having genetic testing. This questionnaire‐based study investigated the perceived acceptability, feasibility, and usefulness of the GPRI in patients and clinicians in routine clinical genetic practice. From December 2018 to January 2019, 154 patients attending an Australian clinical genetic service were invited to complete a paper‐based survey that included the GPRI. The GPRI was scored and provided to the clinician for use in the appointment. In February 2019, clinicians completed an anonymous online survey regarding acceptability, feasibility, and usefulness of the GPRI. Descriptive statistics, chi‐squared, t tests, and regression analyses were used to analyze the patient data, and descriptive statistics were employed for clinician surveys. A total of 145 patients participated (94% response rate). The average GPRI score was 46.3 (95% CI 43.6—49.0) with 41% of patients meeting the 50‐point threshold indicating high risk for psychological distress. The GPRI was highly acceptable to patients, regardless of their level of psychosocial risk. Fourteen clinicians participated (54% response rate): 85% found the GPRI not too time consuming, and 86% believed it improved patient care by identifying patient needs. All were willing to use the GPRI routinely. The use of the GPRI is highly acceptable to patients and clinicians in this setting, assisting in identifying patients at risk for distress, prompting clinicians to address concerns, provide psychosocial support, and consider ongoing referral. As 41% of patients’ scores indicated a high risk of distress, the GPRI is an important tool for potentially enhancing overall patient outcomes.
Background:
The rapid increase in demand for cancer genetic testing in Australia led to the establishment of private Familial Cancer Clinics (FCCs) as alternatives to public sector FCCs. Australian studies conducted in the public sector have shown high patient satisfaction with genetic counselling. No study has investigated patient satisfaction with genetic counselling in the private sector in Australia. Our aim was to assess patient satisfaction with genetic counselling for familial cancer within the private healthcare sector of Western Australia.
Materials and methods:
Questionnaires were given to all eligible patients after their first genetic counselling appointment, consisting of the 12-item Satisfaction with Genetic Counselling Scale and an added question regarding the perceived value for the financial cost. Outcomes assessed included instrumental satisfaction, affective satisfaction, procedural satisfaction and perceived value for financial cost. Participants scored the representative questions from one to four (unsatisfied - highly satisfied).
Results:
Two hundred and twenty patients were given the questionnaire, 75 questionnaires were returned (response rate 34%), and 73 were appropriately completed and analysed. Overall, seventy (96%) participants were highly satisfied with the genetic counsellor's explanation; seventy-four (98%) were highly satisfied/satisfied with the reassurance provided. Sixty-eight participants (93%) were highly satisfied/satisfied with the help received. Seventy-two (99%) participants had their expectations met and sixty-nine (95%) participants were highly satisfied with the service. Sixty-eight (93%) participants were highly satisfied/satisfied with the cost of private genetic counselling. Sixty-one (83.6%) proceeded to genetic testing.
Conclusions:
Private genetic counselling was considered highly satisfactory, and the cost considered acceptable by most participants.
Prophylactic surgery (PS), also called preventive surgery, or risk-reducing surgery, involves partial or complete removal of organs or body tissues that may appear healthy now, but are likely to become ill due to cancer or other causes in the future. PS is a concept and action developed especially for the resection of hereditary cancers while in situ. PS has been increasingly used in recent years as a preventive procedure in cases with germline mutation. PS and interventional procedures are also preferred methods in order to eliminate the risks and complications that may be caused by asymptomatic pathologies. Endoscopic, laparoscopic, and interventional radiological procedures replace conventional surgical applications.
Objective
Genetic testing for hereditary breast and ovarian cancer (HBOC) due to pathogenic variants in BRCA1 or BRCA2 is why most women present to familial cancer centers. Despite being assessed as low risk for HBOC, many women proceed with genetic testing. This study explored the genetic testing experiences of unaffected women at low risk of HBOC to clarify what motivates these women to have testing, and what are the implications of the results.
Methods
A qualitative approach was taken. Participants included women who had genetic testing for HBOC from 2016‐2018 at the Parkville Familial Cancer Centre in Melbourne, Australia. In‐depth, semi‐structured interviews were conducted, and thematic analysis was undertaken on transcripts; transcripts were coded, codes were organized into a hierarchical system of categories/subcategories, and key themes were identified.
Results
Analysis of 19 transcripts identified five themes: family underpinned all motivators for HBOC genetic testing; health professionals were influential throughout the process; participants were planning for a positive result; results influenced screening‐anxiety and frequency; and negative results gave participants relief in many different ways. The three participants with positive results reported feeling shocked at the results and empowered giving this information to family members.
Conclusions
Women at low HBOC risk may be motivated to seek genetic testing, and access to this is increasingly offered through non‐genetic health professionals. Professionals can support clients through genetic testing by recognizing familial experiences, providing accurate information, addressing risk perceptions, and understanding cancer anxiety felt by many women.
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Background
Personalised prevention of breast cancer has focused on women at very high risk, yet most breast cancers occur in women at average, or moderately increased risk (≤moderate risk).
Objectives
To determine; 1) interest of women at ≤ moderate risk (consumers) in personalised information about breast cancer risk; 2) familial cancer clinicians' (FCCs) perspective on managing women at ≤ moderate risk, and; 3) both consumers' and FCCs reactions to iPrevent, a personalised breast cancer risk assessment and risk management decision support tool.
Methods
Seven focus groups on breast cancer risk were conducted with 49 participants; 27 consumers and 22 FCCs. Data were analysed thematically.
Results
Consumers reported some misconceptions, low trust in primary care practitioners for breast cancer prevention advice and frustration that they often lacked tailored advice about breast cancer risk. They expressed interest in receiving personalised risk information using iPrevent. FCCs reported an inadequate workforce to advise women at ≤ moderate risk and reacted positively to the potential of iPrevent to assist.
Conclusions
While highlighting a potential role for iPrevent, several outstanding issues remain. For personalised prevention of breast cancer to extend beyond women at high risk, we must harness women's interest in receiving tailored information about breast cancer prevention and identify a workforce willing to advise women.
Purpose:
Increasingly, women newly diagnosed with breast cancer are being offered treatment-focused genetic testing (TFGT). As the demand for TFGT increases, streamlined methods of genetic education are needed.
Methods:
In this noninferiority trial, women aged <50 years with either a strong family history (FH+) or other features suggestive of a germ-line mutation (FH-) were randomized before definitive breast cancer surgery to receive TFGT education either as brief written materials (intervention group (IG)) or during a genetic counseling session at a familial cancer clinic (usual-care group (UCG)). Women completed self-report questionnaires at four time points over 12 months.
Results:
A total of 135 women were included in the analysis, all of whom opted for TFGT. Decisional conflict about TFGT choice (primary outcome) was not inferior in the IG compared with the UCG (noninferiority margin of -10; mean difference = 2.45; 95% confidence interval -2.87-7.76; P = 0.36). Costs per woman counseled in the IG were significantly lower (AUD173; t(115) = 6.02; P < 0.001).
Conclusion:
A streamlined model of educating women newly diagnosed with breast cancer about TFGT seems to be a cost-effective way of delivering education while ensuring that women feel informed and supported in their decision making, thus freeing resources for other women to access TFGT.Genet Med advance online publication 29 September 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.130.
Background:
Goserelin, a form of medical ovarian suppression (MOS), is an effective treatment for premenopausal women with breast cancer (PMBC). Meta-analysis data showed that similar efficacy is achieved with MOS and non-pharmacological ovarian suppression (NPOS) - oophorectomy or ovarian irradiation. Acceptance rate of NPOS remains low.
Aims:
This study explored the reported toxicities of PMBC women and their preferred ovarian suppression method whilst on goserelin.
Methods:
A postal survey consisting of 22 study specific questions was sent to PMBC women who received goserelin at the Flinders Medical Centre.
Results:
Nineteen women were identified from the database; 12 versus 7 women received goserelin in the adjuvant versus metastatic setting. 13 (68.4%) responded to the survey. Women in the adjuvant cohort were more likely to report toxicities. Commonest were hot flushes (100% vs 50% P = 0.033), myalgia/arthralgia (71.4% vs 16.7%, P = 0.048) and decreased libido (57/1% vs 16.7%, P = 0.135). NPOS was recalled to be offered to five (38.5%) women with acceptance by one BRCA2 carrier. NPOS was declined initially due to fear of procedure, surgical/anaesthetic risk, invasiveness, and planned future pregnancies. If given the option, upfront oophorectomy was indicated in 7 (53.8%) women due to inconveniences with monthly goserelin.
Conclusion:
Half of PMBC women indicated a preference to NPOS but only a minority recollected NPOS being discussed. Inconvenience with monthly goserelin is the main driver toward a preference of favouring NPOS. Clarification from larger trials that research patients' decision process and preferences regarding ovarian suppression is needed to validate our findings.
Genetic testing for a hereditary predisposition to gynecologic cancers has been available clinically since the 1990s. Since then, knowledge of the hereditary contribution to gynecologic cancers has dramatically increased, especially with respect to ovarian cancer. Although knowledge of the number of gynecologic cancer-predisposing genes has increased, the integration of genetic predisposition testing into routine clinical practice has been much slower. This article summarizes the technical and practical aspects of genetic testing in gynecologic cancers, the potential barriers to more widespread access and practice of genetic testing for hereditary predisposition to gynecologic cancers, and the potential solutions to these barriers.
DNA-testing for BRCA1 and BRCA2 has become incorporated in the diagnostic procedure of patients with breast and/or ovarian cancer. Since 1994 an immense amount of information has been gathered on mutation spectra, mutation risk assessment, cancer risks for mutation carriers, factors that modify these risks, unclassified DNA variants, surveillance strategies and preventive options. For the patient and family the main determinator still is whether a mutation is found or not. When a pathogenic mutation is detected in an index case, relatives can opt for pre-symptomatic DNA testing. However in the vast majority no mutation, or only unclear mutations are detectable yet. This means that a hereditary cause cannot be excluded, but pre-symptomatic DNA-testing is still unavailable for relatives. Surveillance for both index cases and relatives is based of the family history of cancer. Next generation genetic testing may help to elucidate genetic causes in these families.
Landmark discoveries in the field of breast cancer research include the identification of germline BRCA mutations as a cause of hereditary disease, and the use of gene-expression profiling to identify distinct subtypes of breast cancer. These findings, coupled with the availability of rapid germline testing, make it possible to identify a BRCA mutation carrier contemporaneous with a diagnosis of breast cancer. For the first time, testing for a germline mutation that predisposes to cancer has the potential to influence the immediate surgical, radiotherapeutic, and drug treatment choices of an individual with a new diagnosis of breast cancer. In this Review, we examine the implications of moving germline BRCA mutation testing from highly specialized family cancer clinics to mainstream settings.