Community awareness and use of anti-Müllerian hormone testing in Australia : a population survey of women

Funding This project was supported by a National Health and Medical Research Council (NHMRC) Centre for Research Excellence grant (1104136) and Program grant (1113532). T.C. is supported by an NHMRC Emerging Leader Research Fellowship (2009419).Peer reviewedPublisher PD

How should we discuss genetic testing with women newly diagnosed with breast cancer? Design and implementation of a randomized controlled trial of two models of delivering education about treatment-focused genetic testing to younger women newly diagnosed with breast cancer

BACKGROUND: Germline BRCA1 and BRCA2 mutation testing offered shortly after a breast cancer diagnosis to inform women's treatment choices - treatment-focused genetic testing 'TFGT' - has entered clinical practice in specialist centers and is likely to be soon commonplace in acute breast cancer management, especially for younger women. Yet the optimal way to deliver information about TFGT to younger women newly diagnosed with breast cancer is not known, particularly for those who were not suspected of having a hereditary breast cancer syndrome prior to their cancer diagnosis. Also, little is known about the behavioral and psychosocial impact or cost effectiveness of educating patients about TFGT. This trial aims to examine the impact and efficiency of two models of educating younger women newly diagnosed with breast cancer about genetic testing in order to provide evidence for a safe and effective future clinical pathway for this service. DESIGN/METHODS: In this non-inferiority randomized controlled trial, 140 women newly diagnosed with breast cancer (aged less than 50 years) are being recruited from nine cancer centers in Australia. Eligible women with either a significant family history of breast and/or ovarian cancer or with other high risk features suggestive of a mutation detection rate of > 10% are invited by their surgeon prior to mastectomy or radiotherapy. After completing the first questionnaire, participants are randomized to receive either: (a) an educational pamphlet about genetic testing (intervention) or (b) a genetic counseling appointment at a family cancer center (standard care). Each participant is offered genetic testing for germline BRCA mutations. Decision-related and psychosocial outcomes are assessed over 12 months and include decisional conflict (primary outcome);uptake of bilateral mastectomy and/or risk-reducing salpingo-oophorectomy; cancer-specific- and general distress; family involvement in decision making; and decision regret. A process-oriented retrospective online survey will examine health professionals' attitudes toward TFGT; a health economic analysis will determine the cost effectiveness of the intervention. DISCUSSION: This trial will provide crucial information about the impact, efficiency and cost effectiveness of an educational pamphlet designed to inform younger women newly diagnosed with breast cancer about genetic testing. Issues regarding implementation of the trial are discussed

Weight perceptions in older adults: findings from the English Longitudinal Study of Ageing

Objectives: To explore weight perceptions in a large, nationally-representative sample of older adults, and the extent to which they differ according to age and perceived health status. Setting: England. Participants: 5,240 men and women (≥50y) participating in the English Longitudinal Study of Ageing (2016/17). Main outcome measures: Weight perception was self-reported as too heavy, too light, or about right. Results: The majority of older adults endorsed a weight perception that matched their (objectively measured) BMI classification. However, one in ten (9.9%) older adults classified by BMI as normal-weight (18.5-24.9kg/m2) felt too light, with women at the upper end of the older age spectrum (OR=1.04, 95%CI=1.01-1.09), and men (OR=3.70, 95%CI=1.88-7.28) and women (OR=2.61, 95%CI=1.27-5.35) in poorer health more likely to do so. Almost half (44.8%) of older adults classified as overweight (25-29.9kg/m2) and one in ten (10.3%) classified as obese (≥30kg/m2) felt about the right weight, with this observed more frequently among men and women at the upper end of the older age spectrum (OR range 1.04-1.06). Conclusion: Older adults’ perceptions of their own weight generally correspond with traditional BMI cut-offs for normal-weight, overweight, and obesity. However, a substantial minority ‘underestimate’ their weight status, with those at the upper end of the age spectrum and those in poorer health more likely to do so

Ovarian stimulation and oocyte cryopreservation in females and transgender males aged 18 years or less: a systematic review

BackgroundFertility preservation is an important healthcare focus in the paediatric and adolescent population when gonadotoxic treatments are required. Ovarian stimulation (OS) resulting in oocyte cryopreservation is a well-established fertility preservation option in the adult population. It’s utility, however, is little known in young patients. The purpose of this review was to synthesise the available literature on OS in patients ≤18 years old, to identify gaps in current research and provide suggestions for future research directions.MethodsUsing PRISMA guidelines, a systematic review of the literature was performed for all relevant full-text articles published in English in Medline, Embase, the Cochrane Library and Google Scholar databases. The search strategy used a combination of subject headings and generic terms related to the study topic and population. Two reviewers independently screened studies for eligibility, extracted data and assessed the risk of bias. Characteristics of the studies, objectives and key findings were extracted and summarised in a narrative synthesis.ResultsDatabase search and manual review identified 922 studies, 899 were eliminated based on defined exclusion criteria. Twenty-three studies were included and comprised 468 participants aged ≤18 years who underwent OS (median 15.2, range 7-18 years old). Only three patients were premenarchal, and four patients were on treatment to suppress puberty. Patients had OS for a broad range of indications including oncology treatment, transgender care and Turner syndrome. A total of 488 cycles of OS were completed, with all but 18 of these cycles (96.3%) successfully resulting in cryopreserved mature oocytes (median 10 oocytes, range 0-35). Fifty-three cycles (9.8%) were cancelled. Complications were rare (<1%). One pregnancy was reported from a female who had OS aged 17 years old.ConclusionThis systematic review demonstrates that OS and oocyte cryopreservation is achievable in young females however there are only a few cases in the literature describing OS in premenarcheal children or those who have suppressed puberty. There is little proof that OS can lead to pregnancy in adolescents, and no proof that this can be achieved in premenarchal girls. Therefore it should be regarded as an innovative procedure for adolescents and experimental for premenarcheal girls.Systematic review registrationhttps://www.crd.york.ac.uk/prospero/display_record.php?RecordID=265705, identifier CRD42021265705

A randomized controlled trial of a decision aid for women considering genetic testing for breast and ovarian cancer risk

PURPOSE: To measure the effectiveness of a tailored decision aid (DA) designed to help women make informed decisions about genetic testing for breast/ovarian cancer risk. METHODS: A total of 145 women were randomized to receive the DA or a control pamphlet at the end of their first genetic counseling consultation. Of these, 120 (82.8%) completed two questionnaires, 1 week and 6 months post-consultation. RESULTS: While the DA had no effect on informed choice, post-decisional regret or actual genetic testing decision, the trial showed that women who received the DA had higher knowledge levels and felt more informed about genetic testing than women who received the control pamphlet (chi(2)(2) = 6.82; P = 0.033; chi(2)(1) = 4.86; P = 0.028 respectively). The DA also helped women who did not have blood drawn at their first consultation to clarify their values with regards to genetic testing (chi(2)(1) = 5.27; P = 0.022). Women who received the DA were less likely to share the information with other family members than women in the control condition (chi(2)(1) = 8.78; P = 0.003). CONCLUSIONS: Decision aids are an effective decision-support strategy for women considering genetic testing for breast/ovarian cancer risk, and are most effective before the patient has made a decision, which is generally at the point of having blood drawn

Merging motherhood and medicine: A qualitative study exploring barriers and enablers to motherhood among female doctors in Australia

Objectives: To identify barriers and enablers to motherhood experienced by female doctors in Australia. Methods: Semi-structured telephone interviews were conducted with 18 female physician-mothers in Australia, during March and May 2020. Interview data were examined using thematic analysis to extract key themes. Results: Six key barriers and seven key enablers were identified. Barriers (B1–6) largely reflected structural and cultural issues operating within health services and the wider medical profession. Barriers were the experience of working in medicine (B1); demands of postgraduate specialty training (B2); attitudes towards mothers in medicine (B3); gender inequality (B4); insufficient entitlements and support (B5); and competing priorities, conflicting roles (B6). Enablers were supportive partnerships (E1); break from traditional gender roles (E2); capacity to delegate/outsource (E3); doctors supporting doctors (E4); flexible work arrangements (E5); increasing acceptance and support (E6); and capacity to combine career and family (E7). Conclusion: This was the first qualitative study to explore motherhood experiences among female doctors in Australia. Participants reported structural and cultural barriers during all stages of motherhood. The mismatch between identified barriers and available supports reveals opportunities for improving the experience of physician-mothers

Elective egg freezers’ disposition decisions: a qualitative study

Objective: To explore the factors that influence elective egg freezers’ disposition decisions toward their surplus-frozen oocytes. Design: Qualitative. Setting: Not applicable. Patient(s): Thirty-one participants: 7 past; 6 current; and 18 future oocyte disposition decision-makers. Intervention(s): Not applicable. Main Outcome Measure(s): Qualitative thematic analysis of interview transcripts. Results: Six inter-related themes were identified related to the decision-making process which are as follows: decisions are dynamic; triggers for the final decision; achieving motherhood; conceptualization of oocytes; the impacts of egg donation on others; and external factors affecting the final disposition outcome. All women reported a type of trigger event for making a final decision (e.g., completing their family). Women who achieved motherhood were more open to donating their oocytes to others but were concerned about the implications for their child and felt responsibility for potential donor children. Women who did not achieve motherhood were unlikely to donate to others due to the grief of not becoming a mother, often feeling alone, misunderstood, and unsupported. Reclaiming oocytes (e.g., taking them home) and closure ceremonies helped some women process their grief. Donating to research was viewed as an altruistic option as oocytes would not be wasted and did not have the “complication” of a genetically-linked child. There was a general lack of knowledge around disposition options at all stages of the process. Conclusion(s): Oocyte disposition decisions are dynamic and complex for women, exacerbated by a general lack of understanding of these options. The final decision is framed by: whether women achieved motherhood, dealing with grief if they did not achieve motherhood, and considering the complexities of donating to others. Additional decision support through counseling, decision aids, and early consideration of disposition when eggs are initially stored may help women make informed decisions.</p