Abstract Objective Female breast cancer patients carrying a BRCA1/2-mutation have an increased risk of second primary breast and ovarian tumors. Little is known about the psychological impact and ...treatment consequences of rapid genetic counseling and testing offered between breast cancer diagnosis and surgery. Methods Female breast cancer patients, who had received rapid genetic counseling (and optional testing) (RGC(T)) at The Netherlands Cancer Institute between 2004 and 2008, received a questionnaire in 2009. Results BRCA-mutations were found in 10 of the 26 participants. Six mutation-carriers (60%) had an immediate bilateral mastectomy, compared with 25% of those without a mutation. Five patients (19%) reported having frequent worries about cancer recurrence; none indicated that such worries impaired daily functioning. Six patients had clinically relevant levels of breast cancer-specific distress at the time of assessment. Conclusion These results suggest that RGC(T) in high-risk breast cancer patients may influence surgical treatment, without causing long-term psychosocial distress in the majority. Practice implications These results are important, since rapid genetic counseling and testing are expected to be offered to newly diagnosed breast cancer patients with increasing frequency in order to inform these women and their surgeons about the possible familial/hereditary nature of their disease before deciding on treatment.
Implant-based breast reconstructions contribute considerably to the quality of life of breast cancer patients. A knowledge gap exists concerning the potential role of silicone breast implants in the ...development of so-called “breast implant illness” (BII) and autoimmune diseases in breast cancer survivors with implant-based reconstructions. BII is a constellation of non-specific symptoms reported by a small group of women with silicone breast implants.
The Areola study is a multicenter retrospective cohort study with prospective follow-up aiming to assess the risk of BII and autoimmune diseases in female breast cancer survivors with and without silicone breast implants. In this report, we set out the rationale, study design, and methodology of this cohort study. The cohort consists of breast cancer survivors who received surgical treatment with implant-based reconstruction in six major hospitals across the Netherlands in the period between 2000 and 2015. As a comparison group, a frequency-matched sample of breast cancer survivors without breast implants will be selected. An additional group of women who received breast augmentation surgery in the same years will be selected to compare their characteristics and health outcomes with those of breast cancer patients with implants. All women who are still alive will be invited to complete a web-based questionnaire covering health-related topics. The entire cohort including deceased women will be linked to population-based databases of Statistics Netherlands. These include a registry of hospital diagnostic codes, a medicines prescription registry, and a cause-of-death registry, through which diagnoses of autoimmune diseases will be identified. Outcomes of interest are the prevalence and incidence of BII and autoimmune diseases. In addition, risk factors for the development of BII and autoimmune disorders will be assessed among women with implants.
The Areola study will contribute to the availability of reliable information on the risks of BII and autoimmune diseases in Dutch breast cancer survivors with silicone breast implants. This will inform breast cancer survivors and aid future breast cancer patients and their treating physicians to make informed decisions about reconstructive strategies after mastectomy.
This study is registered at ClinicalTrials.gov on June 2, 2022 (NCT05400954).
In the care of patients with Lynch Syndrome (LS), a range of psychosocial issues are encountered, which significantly affect patient outcomes. A brief historical background of ‘psycho-onco-genetics’ ...(the domain where psychology, oncology and genetics meet) in relation to LS is presented, followed by an overview of important psychosocial issues identified in the past 20 years. The identification of mismatch repair genes in 1993–1994 made possible genetic counseling and testing for patients who had cancer and for potentially high-risk relatives without cancer. At that time, concerns were raised about the potentially negative psychosocial impact of predictive genetic testing. Since 1993, a large number of studies have been conducted to investigate the possible psychosocial benefits and limitations of such testing. This article presents an overview of: the uptake of and motivations for genetic testing, its psychosocial impact (e.g. psychological adaptation, impact on risk perception and self-concept, and concerns about, and experiences of, genetic discrimination), psychological screening instruments, adherence to and decision-making about preventive strategies, family communication, lifestyle changes, reproductive technology utilization, and professional psychosocial support needs of members of families with LS. Finally, challenges for the future are discussed, including population screening and genomic testing.
CHEK2 has been recognized as a breast cancer risk gene with moderate effect. Women who have previously tested negative for a BRCA1/2 gene germline pathogenic variant may benefit from additional ...genetic testing for the CHEK2 c.1100del pathogenic variant. The aims of this study were: 1) to assess the uptake of an active approach by recontacting BRCA1/2-negative women for additional CHEK2 c.1100del testing on stored DNA-samples and 2) to explore patients' experiences with this approach.
Between 2015 and 2017, women who had been tested earlier negative for BRCA1/2 germline pathogenic variants, were recontacted for additional CHEK2 c.1100del testing on stored DNA-samples, free-of-charge. They received an information letter about the CHEK2 pathogenic variant and could return an informed consent form when they opted for additional genetic testing. Those in whom the CHEK2 pathogenic variant was absent, received a letter describing this result. Those who tested positive, were invited for a personal counseling at the department of genetics. On average 21 months (range 4-27) after the genetic test result, a questionnaire was sent to all identified carriers and a control group of women who tested negative for the pathogenic variant to explore patients' experiences with our approach.
In total, 70% (N = 1666) of the N = 2377 women contacted opted for additional testing, and 66 (4%) of them proved to be carriers of the CHEK2 c.1100del pathogenic variant. Regardless of the outcome of the genetic test, women were generally satisfied with our approach and reported that the written information was sufficient to make an informed decision about the additional CHEK2 testing.
The uptake (70%) of our approach was considered satisfactory. Patients considered the benefits more important than the psychosocial burden. Given the rapid developments in DNA-diagnostics, our findings may support future initiatives to recontact patients about additional genetic testing when they previously tested negative for a pathogenic variant in a breast cancer gene.
This study evaluated the efficacy of a cancer genetics–specific questionnaire in facilitating communication about, awareness of, and management of psychosocial problems, as well as in lowering ...distress levels.
Individuals referred to genetic counseling for cancer at two family cancer clinics in The Netherlands were randomly assigned to an intervention or a control group. All participants completed the psychosocial questionnaire before counseling. In the intervention group, the counselors received the results of this questionnaire before the counseling session. All sessions were audiotaped for content analysis. Primary outcomes were the frequency with which psychosocial problems were discussed, the genetic counselors’ awareness of these problems, and their management. Secondary outcomes included cancer worries and psychological distress, duration and dynamics of the counseling, and satisfaction.
The frequency with which psychosocial problems were discussed with 246 participating counselees was significantly higher in the intervention group (n = 127) than in the control group (n =119; P = .004), as was the counselors’ awareness of psychosocial problems regarding hereditary predisposition (P < .001), living with cancer (P = .01), and general emotions (P < .001). Counselors initiated more discussion of psychosocial problems in the intervention group (P < .001), without affecting the length of the counseling session. No significant differences were found on management (P = .19). The intervention group reported significantly lower levels of cancer worries (p = .005) and distress (p = .02) after counseling.
The routine assessment of psychosocial problems by questionnaire facilitates genetic counselors’ recognition and discussion of their clients’ psychosocial problems and reduces clients’ distress levels.
Consistent scientific evidence on the possible relationship between psychologic variables and breast cancer development is lacking. In 1996, our group first reported on the present prospective, ...longitudinal study. We found a weak association between a high score on the antiemotionality scale (indicating an absence of emotional behavior or a lack of trust in one’s own feelings) and the development of breast cancer. No associations were found between any of the other 10 studied personality traits and breast cancer development. However, the study had a relatively short follow-up and did not investigate interaction effects between various personality traits. Therefore, the current follow-up study was conducted with the same cohort, which included the 9705 women who attended a biennial population surveillance program for breast cancer and completed a self-report personality questionnaire between January 1, 1989, and December 31, 1990. Women who developed breast cancer during the period from May 17, 1995, through January 1, 2003, formed the case group (n = 217) and were compared with age-matched women without breast cancer who formed the control group (n = 868) with regard to personality traits and medical risk factors for breast cancer. None of the personality factors were statistically significantly associated with an increased risk of breast cancer, with or without adjusting for the medical risk factors. Also, the occurrence of a combination of various personality traits (eg, a so-called cancer-prone personality) was not related to breast cancer development.
Inconclusive genetic test results including screening recommendations for the breast cancer patients and their first-degree relatives are the most common outcomes of BRCA 1/2 testing. Patients ...themselves should communicate these results to their relatives. Our aim was to explore communication of breast cancer genetic counseling results with daughters and sisters over a long period of time. Breast cancer patients, who had received an inconclusive DNA test result 7–14 years earlier, completed a self-report questionnaire. Additionally, in-depth interviews were conducted and analysed thematically. Of the 93 respondents, 85 (91 %) considered themselves responsible for communicating genetic test results to relatives. In-depth interviews (
n
= 14) showed, that counselees wanted ‘to hand over’ their responsibilities to communicate the test results and screening recommendations to their sisters. Although most patients had informed their daughters and sisters about the genetic test results, usually little is spoken about genetic test results and screening recommendations once the duty of informing is completed. We recommend that, similar to the procedure for BRCA1/2-mutation carriers, a separate letter for first-degree relatives of patients with an inconclusive test result should be provided. In this way information about risks and screening recommendations can be verified by family members years after genetic testing has been completed.
Abstract
The purpose of this study was to identify (unmet) needs from a social work perspective of Adolescents and Young Adults (AYAs; aged eighteen to thirty-nine years) treated for cancer. The ...biopsychosocial model was used as framework to investigate the (unmet) needs of the AYAs. AYAs within two years after their cancer diagnosis were invited to participate in an interview. In addition, case studies were presented. Nine AYAs agreed to participate in the interviews. All respondents struggled with the rehabilitation and ‘post cancer’ phase and the impact of the treatment on their physical, sexual and psychological well-being. AYAs with an active desire to have children mentioned lack of information about the options of fertility preservation. The respondents would recommend psychosocial support for their peer AYAs, despite the absence of a need themselves. Themes such as lack of control, social economic (financial) status and existential issues were less prominent. Social workers should standardly be involved in the hospitals’ care path throughout the disease continuum: starting at diagnosis, continuing throughout treatment, and importantly, also in the rehabilitation phase and end-of-life care. The biopsychosocial model can serve as a tool to support the social worker in the counselling of these AYAs.
Abstract Specific clinical questions rise when patients, who are diagnosed with breast cancer, are at risk of carrying a mutation in BRCA1 and -2 gene due to a strong family history or young age at ...diagnosis. These questions concern topics such as 1. Timing of genetic counseling and testing, 2. Choices to be made for BRCA1 or -2 mutation carriers in local treatment, contralateral treatment, (neo)adjuvant systemic therapy, and 3. The psychological effects of rapid testing. The knowledge of the genetic status might have several advantages for the patient in treatment planning, such as the choice whether or not to undergo mastectomy and/or prophylactic contralateral mastectomy. The increased risk of developing a second breast cancer in the ipsilateral breast in mutation carriers, is only slightly higher after primary cancer treatment, than in the general population. Prophylactic contralateral mastectomy provides a substantial reduction of contralateral breast cancer, although only a small breast cancer specific survival benefit. Patients should be enrolled in clinical trials to investigate (neo)-adjuvant drug regimens, that based on preclinical and early clinical evidence might be targeting the homologous recombination defect, such as platinum compounds and PARP inhibitors. If rapid testing is performed, the patient can make a well-balanced decision. Although rapid genetic counseling and testing might cause some distress, most women reported this approach to be worthwhile. In this review the literature regarding these topics is evaluated. Answers and suggestions, useful in clinical practice are discussed.
PURPOSE:
Breast cancer patients face complex decisions about immediate breast reconstruction (BR) after mastectomy. We evaluated the efficacy of an online decision aid in improving the ...decision-making process, decision quality and health outcomes in breast cancer patients considering immediate BR.
METHODS:
In a multicenter randomized controlled trial, patients were allocated to either the intervention group receiving care-as-usual (CAU) with access to an online decision aid, or the control group receiving CAU with an information leaflet. The primary outcome was decisional conflict. Secondary outcomes assessed the process of decision making (e.g. preparation for decision making, satisfaction with information), decision quality (decision regret, knowledge) and health outcomes (e.g. satisfaction with BR outcomes, body image). Patients completed questionnaires at baseline (T0), 1 week after consultation with a plastic surgeon (T1), 3 months (T2), and 12 months post-surgery (T3).
RESULTS:
We included 250 patients. Decisional conflict decreased over time in both groups, with no between group differences. Intervention participants felt better prepared for decision making than controls (
P
= .002). At T2, 87% of intervention participants were (very) satisfied with the information about BR, compared to 73% of control participants (
P
= .011). No significant between group differences were observed in any other outcome.
CONCLUSION:
Our online decision aid was as effective in reducing decisional conflict as an information leaflet about immediate BR after mastectomy. However, the decision aid substantially improved the decision-making process by better preparing breast cancer patients for decisions about immediate BR.
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