Interventions to improve psychosocial well-being in female BRCA-mutation carriers following risk-reducing surgery.

BACKGROUND: Women who carry a pathogenic mutation in either a BRCA1 DNA repair associated or BRCA2 DNA repair associated (BRCA1 or BRCA2) gene have a high lifetime risk of developing breast and tubo-ovarian cancer. To manage this risk women may choose to undergo risk-reducing surgery to remove breast tissue, ovaries, and fallopian tubes. Surgery should increase survival, but can impact women's lives adversely at the psychological and psychosexual levels. Interventions to facilitate psychological adjustment and improve quality of life post risk-reducing surgery are needed. OBJECTIVES: To examine psychosocial interventions in female BRCA carriers who have undergone risk-reducing surgery and to evaluate the effectiveness of such interventions on psychological adjustment and quality of life. SEARCH METHODS: We searched the Cochrane Central Register of Controlled Trials (CENTRAL) in the Cochrane Library, MEDLINE and Embase via Ovid, CINAHL, PsycINFO, Web of Science up to April 2019 and Scopus up to January 2018. We also handsearched abstracts of scientific meetings and other relevant publications. SELECTION CRITERIA: We included randomised controlled trials (RCT), non-randomised studies (NRS), prospective and retrospective cohort studies and interventional studies using baseline and postintervention analyses in female BRCA carriers who have undergone risk-reducing surgery. DATA COLLECTION AND ANALYSIS: Two review authors independently assessed eligibility studies for inclusion in the review. We used standard methodological procedures expected by Cochrane. MAIN RESULTS: We screened 4956 records from the searches, selecting 34 unique studies for full-text scrutiny, of which two met the inclusion criteria: one RCT and one NRS. The included studies assessed 113 female BRCA carriers who had risk-reducing surgery, but there was attrition, and outcome data were not available for all participants at final study assessments. We assessed the RCT as at a high risk of bias whilst the NRS did not have a control group. Our GRADE assessment of the studies was very low-certainty due to the paucity of data and methodological shortcomings of the studies. The primary outcome of quality of life was only measured in the RCT and that was specific to the menopause. Both studies reported on psychological distress and sexual function. Neither study measured body image, perhaps because this is most often associated with risk-reducing mastectomy rather than oophorectomy.The RCT (66 participants recruited with 48 followed to 12 months) assessed the short- and long-term effects of an eight-week mindfulness-based stress reduction (MBSR) training programme on quality of life, sexual functioning, and sexual distress in female BRCA carriers (n = 34) in a specialised family cancer clinic in the Netherlands compared to female BRCA carriers (n = 32) who received usual care. Measurements on the Menopause-Specific Quality of Life Questionnaire (MENQOL) showed some improvement at 3 and 12 months compared to the usual care group. At 3 months the mean MENQOL scores were 3.5 (95% confidence interval (CI) 3.0 to 3.9) and 3.8 (95% CI 3.3 to 4.2) for the MBSR and usual care groups respectively, whilst at 12 months the corresponding values were 3.6 (95% CI 3.1 to 4.0) and 3.9 (95% CI 3.5 to 4.4) (1 study; 48 participants followed up at 12 months). However, these results should be interpreted with caution due to the very low-certainty of the evidence, where a lower score is better. Other outcome measures on the Female Sexual Function Index and the Female Sexual Distress Scale showed no significant differences between the two groups. Our GRADE assessment of the evidence was very low-certainty due to the lack of blinding of participants and personnel, attrition bias and self-selection (as only one-third of eligible women chose to participate in the study) and serious imprecision due to the small sample size and wide 95% CI.The NRS comprised 37 female BRCA carriers selected from three Boston-area hospitals who had undergone a novel sexual health intervention following risk-reducing salpingo-oophorectomy (RRSO) without a history of tubo-ovarian cancer. The intervention consisted of targeted sexual-health education, body awareness and relaxation training, and mindfulness-based cognitive therapy strategies, followed by two sessions of tailored telephone counselling. This was a single-arm study without a control group. Our GRADE assessment of the evidence was very low-certainty, and as there was no comparison group in the included study, we could not estimate a relative effect. The study reported change in psychosexual adjustment from baseline to postintervention (median 2.3 months) using measures of Female Sexual Function Index (n = 34), which yielded change with a mean of 3.91, standard deviation (SD) 9.12, P = 0.018 (1 study, 34 participants; very low-certainty evidence). The Brief Symptom Inventory, Global Severity Index yielded a mean change of 3.92, SD 5.94, P < 0.001. The Sexual Self-Efficacy Scale yielded change with a mean of 12.14, SD 20.56, P < 0.001. The Sexual Knowledge Scale reported mean change of 1.08, SD 1.50, P < 0.001 (n = 36). Participant satisfaction was measured by questionnaire, and 100% participants reported that they enjoyed taking part in the psychoeducation group and felt "certain" or "very certain" that they had learned new skills to help them cope with the sexual side effects of RRSO. AUTHORS' CONCLUSIONS: The effect of psychosocial interventions on quality of life and emotional well-being in female BRCA carriers who undergo risk-reducing surgery is uncertain given the very low methodological quality in the two studies included in the review. The absence of such interventions highlights the need for partnership between researchers and clinicians in this specific area to take forward the patient-reported outcomes and develop interventions to address the psychosocial issues related to risk-reducing surgery in female BRCA carriers, particularly in this new era of genomics, where testing may become more mainstream and many more women are identified as gene carriers.

Raising health care provider awareness of sexually transmitted disease in patients over age 50.

An increase in sexual activity among persons over age 50 has resulted in a dramatically increased prevalence of sexually transmitted diseases (STDs), including higher rates of HIV/AIDS, syphilis, gonorrhea, and chlamydia. Raising awareness of health care providers regarding STDs in this age group is essential for appropriate prevention and treatment.

Family communication, genetic testing and colonoscopy screening in hereditary non-polyposis colon cancer: a qualitative study.

OBJECTIVE: Genetic testing and colonoscopy is recommended for people with a strong history of colorectal cancer (CRC). However, families must communicate so that all members are aware of the risk. The study aimed to explore the factors influencing family communication about genetic risk and colonoscopy among people with a strong family history of CRC who attended a genetic clinic with a view to having a genetic test for hereditary non-polyposis colon cancer (HNPCC). METHODS: Interviews were held with 30 people with a high familial risk of colon cancer. The transcripts were transcribed verbatim and analysed using Interpretative Phenomenological Analysis. RESULTS: The family context, family history and perceptions about family duties and responsibilities were important motivators for communication about risk, genetic testing and colonoscopy and influenced participation in genetic testing and screening programmes. Participants reported usually communicating openly with their relatives about genetic risk and colonoscopy. Individuals felt a duty towards affected relatives and to their own children. The influence of the spouse and other relatives, particularly those affected by CRC, was also important. Colonoscopy was perceived to be embarrassing, unpleasant and sometimes painful. While there was sometimes anxiety about the result of the colonoscopy the results were usually reassuring. CONCLUSIONS: The family context and the experience of the family history can have an impact on communication, genetic testing and screening in HNPCC and this should be explored during counselling. Some individuals might benefit from support in communicating with relatives about genetic risk. Ways of improving the individual's experience of colonoscopy should also be examined.

Follicle Size on Day of Trigger Most Likely to Yield a Mature Oocyte.

OBJECTIVE: To identify follicle sizes on the day of trigger most likely to yield a mature oocyte following hCG, GnRH agonist (GnRHa), or kisspeptin during IVF treatment. DESIGN: Retrospective analysis to determine the size of follicles on day of trigger contributing most to the number of mature oocytes retrieved using generalized linear regression and random forest models applied to data from IVF cycles (2014-2017) in which either hCG, GnRHa, or kisspeptin trigger was used. SETTING: HCG and GnRHa data were collected at My Duc Hospital, Ho Chi Minh City, Vietnam, and kisspeptin data were collected at Hammersmith Hospital, London, UK. PATIENTS: Four hundred and forty nine women aged 18-38 years with antral follicle counts 4-87 were triggered with hCG (n = 161), GnRHa (n = 165), or kisspeptin (n = 173). MAIN OUTCOME MEASURE: Follicle sizes on the day of trigger most likely to yield a mature oocyte. RESULTS: Follicles 12-19 mm on the day of trigger contributed the most to the number of oocytes and mature oocytes retrieved. Comparing the tertile of patients with the highest proportion of follicles on the day of trigger 12-19 mm, with the tertile of patients with the lowest proportion within this size range, revealed increases of 4.7 mature oocytes for hCG (P < 0.0001) and 4.9 mature oocytes for GnRHa triggering (P < 0.01). Using simulated follicle size profiles of patients with 20 follicles on the day of trigger, our model predicts that the number of oocytes retrieved would increase from a mean 9.8 (95% prediction limit 9.3-10.3) to 14.8 (95% prediction limit 13.3-16.3) oocytes due to the difference in follicle size profile alone. CONCLUSION: Follicles 12-19 mm on the morning of trigger administration were most likely to yield a mature oocyte following hCG, GnRHa, or kisspeptin.

Cancer genetics: consultants' perceptions of their roles, confidence and satisfaction with knowledge.

RATIONALE, AIMS AND OBJECTIVES: Genetic testing for susceptibility for common cancers is widely available. Cancer specialists and specialists in other areas may have a role in identifying and referring patients who would benefit from a consultation with a specialist in genetics. This study aimed to find out which consultants believed that genetic testing was relevant to their practice. We also wanted to determine their views of their roles in relation to genetic testing, their confidence in these roles, and the value of different educational tools. METHODS: This was a self-completed, cross-sectional, postal survey of all the consultants in Northern Ireland (n=520, response rate=59.3%) identified from the Central Services Agency list. RESULTS: Three hundred and ninety questionnaires were returned (44%). A total of 28.6% did not complete the questionnaire stating that genetics was not relevant to their practice. Few consultants reported having consultations related to genetic disease, receiving training in genetics and referring to genetics services. There was some dissatisfaction with their current knowledge of genetics and they believed that guidelines and educational tools may be useful. The respondents lacked confidence in undertaking some of their roles. Through their responses to the cancer scenarios, these consultants showed that they would offer appropriate advice and referrals. Many consultants did not know if family history information should be provided to insurance companies. CONCLUSIONS: Some consultants may require further training to enable them to fulfil their roles in relation to genetics. Tools or guidelines to assist with referral decisions may also be useful. Consultants may need clearer guidance regarding the provision of family history information to insurance companies.

Maximising survival: the main concern of women with hereditary breast and ovarian cancer who undergo genetic testing for BRCA1/2.

PURPOSE: Little is known about how women with hereditary breast and/or ovarian cancer who test positive for a BRCA gene manage the impact of a positive test result on their everyday lives and in the longer term. This study defined the experience and needs of women with hereditary breast and ovarian cancer and a positive BRCA test over time. METHODS: A grounded theory approach was taken using qualitative interviews (n = 49) and reflective diaries. Data collected from December 2006 until March 2010 was analysed using the constant comparative technique to trace the development of how women manage their concerns of inherited cancer. RESULTS: A four stage substantive theory of maximising survival was generated that defines the experience of women and how they resolve their main concerns. The process of maximising survival begins prior to genetic testing in women from high risk families as they expect to get a cancer diagnosis at some time. Women with cancer felt they had experienced the worst with a cancer diagnosis and altruistically tested for the sake of their children but a positive test result temporarily shifted their focus to decision-making around their personal health needs. CONCLUSION: This study adds to clinical practice through raising awareness and adding insights into how women cope with living with inherited cancer risk and the personal and familial ramifications that ensue from it. A clear multi-professional structured care pathway for women from genetic testing result disclosure to undergoing risk-reducing surgery and/or surveillance should be developed.

Clinal patterns of desiccation and starvation resistance in ancestral and invading populations of Drosophila subobscura.

As invading species expand, they eventually encounter physical and biotic stressors that limit their spread. We examine latitudinal and climatic variation in physiological tolerance in one native and two invading populations of Drosophila subobscura. These flies are native to the Palearctic region, but invaded both South and North America around 1980 and spread rapidly across 15° of latitude on each continent. Invading flies rapidly evolved latitudinal clines in chromosome inversion frequencies and in wing size that parallel those of native populations in the Old World. Here we investigate whether flies on all three continents have evolved parallel clines in desiccation and starvation tolerance, such that flies in low-latitude regions (hot, dry) might have increased stress resistance. Starvation tolerance does not vary with latitude or climate on any continent. In contrast, desiccation tolerance varies clinally with latitude on all three continents, although not in parallel. In North American and Europe, desiccation tolerance is inversely related to latitude, as expected. But in South America, desiccation tolerance increases with latitude and is greatest in relatively cool and wet areas. Differences among continents in latitudinal patterns of interspecific-competition potentially influence clinal selection for physiological resistance, but no simple pattern is evident on these continents.