Population-based BRCA1/2 testing programmes are highly acceptable in the Jewish community: results of the JeneScreen Study.

BACKGROUND: Ashkenazi Jewish (AJ) people have a higher incidence of BRCA1/2 pathogenic variants (PVs) than unselected populations. Three BRCA-Jewish founder mutations (B-JFMs) comprise >90% of BRCA1/2 PVs in AJ people. Personal/family cancer history-based testing misses ≥50% of people with B-JFM. METHODS: We compared two population-based B-JFM screening programmes in Australia-using (1) an online tool (Sydney) and (2) in-person group sessions (Melbourne). RESULTS: Of 2167 Jewish people tested (Sydney n=594; Melbourne n=1573), 1.3% (n=28) have a B-JFM, only 2 of whom had a significant cancer family history (Manchester score ≥12). Pretest anxiety scores were normal (mean 9.9±3.5 (6-24)), with no significant post-result change (9.5±3.3). Decisional regret (mean 7.4±13.0 (0-100)), test-related distress (mean 0.8+/2.2 (0-30)) and positive experiences (reverse-scored) (mean 3.4±4.5 (1-20)) scores were low, with no significant differences between Sydney and Melbourne participants. Post-education knowledge was good overall (mean 11.8/15 (±2.9)) and significantly higher in Melbourne than Sydney. Post-result knowledge was the same (mean 11.7 (±2.4) vs 11.2 (±2.4)). Participants with a B-JFM had higher post-result anxiety and test-related distress and lower positive experiences, than those without a B-JFM, but scores were within the normal range. Family cancer history did not significantly affect knowledge or anxiety, or pretest perception of B-JFM or cancer risks. Most participants (93%) were satisfied/very satisfied with the programme. CONCLUSION: Both B-JFM screening programmes are highly acceptable to Australian Jewish communities. The programme enabled identification of several individuals who were previously unaware they have a B-JFM, many of whom would have been ineligible for current criteria-based testing in Australia.

Enrolment in paediatric oncology early-phase clinical trials: The health-care professionals' perspective.

AIM: Approximately 20-30% of children/adolescents with cancer will not respond to standard therapies. These children are usually offered experimental treatment in the form of an early-phase clinical trial. We examined the perspectives of health-care professionals (HCPs) regarding obtaining informed consent for early-phase trials in paediatric oncology. METHODS: We collected survey data from 87 HCPs working in paediatric cancer centres across Australia and New Zealand. RESULTS: HCPs were, on average, 44 years old (range = 25-74), with 15.8 years' experience in paediatric oncology (range = 1-40). Few HCPs (17.4%) received training for early-phase trial consent; however, most were willing to attend training (77.9%). HCPs (61.6%) reported that they informed families about early-phase trials without any attempt to influence their decision. However, 23.3% of HCPs reported that they informed families that their child would benefit. HCPs' main obstacle in obtaining consent was their perception of parents' eagerness to 'try anything' (52.3%). HCPs perceived that many parents misunderstood key clinical trials concepts, with 25.2% of HCPs believing that not being given clear information influenced parents' decisions. Physicians were more likely than social workers/nurses to inform families that other children will benefit from enrolment in the study. Social workers/nurses appeared to rate the chance of benefits for the patient higher than physicians. CONCLUSIONS: HCPs may experience difficulty conducting early-phase trial consultations and obtaining valid informed consent. Our study highlights the need for formal training for HCPs and additional patient education tools.

Prenatal ß-thalassemia carrier screening in Australia: healthcare professionals' perspectives of clinical practice.

OBJECTIVE: To gain a better understanding of healthcare professionals' practice and attitudes regarding prenatal ß-thalassemia carrier screening in Australia. METHOD: Qualitative study with semi-structured interviews of healthcare professionals (obstetricians, general practitioners, midwives, genetic counselors, and hematologists) involved in prenatal thalassemia carrier screening in public and private practice. RESULTS: Twenty-three healthcare providers were interviewed and several themes emerged. Participants described and acknowledged inconsistencies in the ß-thalassemia screening processes, such as variability in ordering the tests, communicating the diagnosis, and action taken after diagnosis. They indicated a preference for more structure and valued the importance of screening guidelines but many of those involved in ordering the screening test were unaware of their availability. These healthcare professionals recognized they lacked knowledge regarding the screening process, and many had not undertaken education activities in this area in recent times. There were mixed views about the consent process, particularly at which stage this should be obtained, and what information is provided. CONCLUSIONS: ß-thalassemia screening in Victoria occurs with apparent lack of awareness of guidelines and an acknowledged preference for a more systematic process and educational support. Informed consent was not considered an important component of this screening process.

Current practice and attitudes of Australian obstetricians toward population-based carrier screening for inherited conditions.

An anonymous survey of Australian Fellows of the Royal Australian and New Zealand College of Obstetricians and Gynaecologists was conducted with the aim of understanding current practice and attitudes toward population-based carrier screening for inherited conditions in the setting of routine pregnancy care. Of 1,121 Fellows invited to complete the online questionnaire by e-mail, 237 (21%) responded, and of these 156 were practicing obstetricians and completed the whole survey. Of the respondents, 83% expressed support for population-based carrier screening for at least some conditions, with 97% supporting carrier screening for ß-thalassaemia, and 83% supporting carrier screening for cystic fibrosis (CF). A small proportion of obstetricians reported offering carrier screening as part of routine pregnancy care (20% for ß-thalassaemia, 8% for CF, 5% for fragile X syndrome, and 2% for spinal muscular atrophy). The main practical barriers identified for screening were cost, time constraints, and availability of supporting services. Addressing these issues is crucial for the successful implementation of population-based carrier screening programs in Australia and internationally.

Evaluation of two population screening programmes for BRCA1/2 founder mutations in the Australian Jewish community: a protocol paper.

INTRODUCTION: People of Ashkenazi Jewish (AJ) ancestry are more likely than unselected populations to have a BRCA1/2 pathogenic variant, which cause a significantly increased risk of breast, ovarian and prostate cancer. Three specific BRCA1/2 pathogenic variants, referred to as BRCA-Jewish founder mutations (B-JFM), account for >90% of BRCA1/2 pathogenic variants in people of AJ ancestry. Current practice of identifying eligible individuals for BRCA testing based on personal and/or family history has been shown to miss at least 50% of people who have one of these variants. Here we describe the protocol of the JeneScreen study-a study established to develop and evaluate two different population-based B-JFM screening programmes, offered to people of Jewish ancestry in Sydney and Melbourne, Australia. METHODS AND ANALYSIS: To rmeasure the acceptability of population-based B-JFM screening in Australia, two screening programmes using different methodologies have been developed. The Sydney JeneScreen programme provides information and obtains informed consent by way of an online tool. The Melbourne JeneScreen programme does this by way of community sessions attended in person. Participants complete questionnaires to measure clinical and psychosocial outcomes at baseline, and for those who have testing, 2 weeks postresult. Participants who decline testing are sent a questionnaire regarding reasons for declining. Participants with a B-JFM are sent questionnaires 12-month and 24-month post-testing. The questionnaires incorporate validated scales, which measure anxiety, decisional conflict and regret, and test-related distress and positive experiences, and other items specifically developed or adapted for the study. These measures will be assessed for each programme and the two population-based B-JFM screening methods will be compared. ETHICS AND DISSEMINATION: Institutional Human Research Ethics Committee approval was obtained from the South Eastern Area Health Service Human Research Ethics Committee: HREC Ref 16/125.Following the analysis of the study results, the findings will be disseminated widely through conferences and publications, and directly to participants in writing.

Online BRCA1/2 screening in the Australian Jewish community: a qualitative study.

Screening programmes for BRCA1/2 Jewish Founder mutations (JFM) in the Jewish community have been advocated internationally. Implementation of these programmes could decrease morbidity and mortality of BRCA1/2 JFM carriers through the uptake of cancer screening strategies and risk-reducing surgery. An online programme offered to the Sydney Jewish community that delivers pre-test information and collects consent for BRCA1/2 JFM testing via a website is currently being evaluated (JeneScreen). Forty-three participants from JeneScreen were invited to participate in a sub-study, of semi-structured pre- and post-result telephone interviews. Eleven participants consented to the sub-study. The interviews explored their experiences regarding the online model of obtaining pre-test genetic information, giving consent and receiving results. Inductive thematic analysis was carried out on the interviews. Overarching themes identified include (1) embracing online testing, (2) the online pre-test experience, (3) the result notification experience, (4) concerns associated with online testing and (5) testing as a responsibility. Overall, participants were highly satisfied with online BRCA1/2 JFM testing, an indication that the a website for pre-test information provision is an acceptable alternative to in-person genetic counselling for BRCA1/2 JFM screening and represents a feasible model for future community screening efforts.

The needs of older people with asthma.

BACKGROUND: Asthma is prevalent among elderly Australians but is often misdiagnosed and undertreated. Asthma presents with the same clinical features in the elderly as in the younger population. OBJECTIVE: This article identifies current knowledge about the needs of elderly people with asthma, as well as the knowledge gaps currently existing in this area of health care. DISCUSSION: A significant proportion of elderly people with asthma go undiagnosed. Elderly patients under-report symptoms and attribute breathlessness to age and other comorbidities. Other difficulties include impaired perception of asthma severity, poor medication adherence, physical disability, cognitive dysfunction, and a passive self management approach. These all contribute to poorer asthma outcomes among the elderly. The management of asthma among the elderly is likely to improve if specific needs are addressed with tailored educational interventions and appropriate care.

Community attitudes towards a Jewish community BRCA1/2 testing program.

About 2.5 % of the Ashkenazi-Jewish population carry one of three "founder" mutations in BRCA1 and BRCA2 (BRCA1/2). Currently, testing is offered to Jewish people with a personal and/or family history of breast and/or ovarian cancer; however less than half of BRCA1/2 carriers within the Jewish population are aware of their family history. Population-based testing in other countries has shown to greatly increase the number of mutation carriers identified, compared to targeted testing of people with a family history. We aimed to assess the Australian Jewish community's attitudes towards such a program, including acceptability and interest in having education and testing offered online. Members of Sydney-based Jewish organisations who self-identified as being Jewish were invited by e-mail to participate in an online survey. Of 370 individuals who completed the survey, 96.8 % supported a Jewish community-based BRCA1/2 testing program, and 65.6 % reported being personally interested in undergoing the test. Younger adults aged below 50 years were more interested in undergoing the test than those aged 50 years and above. Almost half (42.9 %) were aware of a family member with breast and/or ovarian cancer; however, of these, 77.1 % had not yet undergone testing. Sixty-five (65.1 %) percent were satisfied with providing consent online, while only 39.6 % of participants' first preference for method of information provision was online. Given the high level of support, and interest in a community testing program, the development and evaluation of a cost-effective and interactive, online BRCA1/2 community testing program appears warranted.

"He didn't say that thalassaemia might come up" - ß-thalassaemia carriers' experiences and attitudes.

Tests for haemoglobinopathy carrier status are the commonest genetic screening tests undertaken internationally. Carrier screening for ß-thalassaemia is not coordinated in Victoria, Australia, and is instead incorporated into routine practice where most women are screened antenatally, through a full blood examination (FBE). Little is known about how women are screened for ß-thalassaemia in Australia as well as their attitudes towards the screening process. This study was conducted to explore carriers' and carrier couples' experiences of and attitudes towards ß-thalassaemia screening in Australia. Semi-structured interviews with 26 recently pregnant female carriers and ten carrier couples of ß-thalassaemia were carried out. Interviews were analysed using inductive content analysis. Unexpectedly, more than half of the women had been made aware of their carrier status prior to pregnancy, with FBEs carried out for numerous reasons other than thalassaemia screening. Most women did not recall being told about thalassaemia before notification of their carrier status and therefore did not make a decision about being screened. They were generally accepting for doctors to decide about testing; however, would have preferred to have been made aware of the screening test. Women also reported receiving insufficient information after being notified of their carrier status, leading to misconceptions and confusion. This genetic screening process, incorporated into routine care whereby informed decisions were not being made by patients, was apparently acceptable overall. Based on the results of this study, we make the following recommendations: (1) individuals should be made aware that they are being tested for thalassaemia at least before a specific thalassaemia diagnostic test is performed; (2) current understanding by known carriers of thalassaemia should be assessed and any misconceptions corrected; (3) written information should be provided to carriers; (4) referral of carrier couples to specialists in thalassaemia and genetics is strongly recommended; (5) the term 'carrier of ß-thalassaemia' should be used rather than 'thalassaemia minor'.

Development and validation of the Patient Asthma Concerns Tool (PACT) to identify the needs of older people with asthma.

BACKGROUND: Tools which assist practitioners to identify patient concerns and increase understanding of their needs can improve both the delivery of care and adherence to treatment. The aim of this study was to test the validity and reliability of a 14-item tool, to identify the unmet needs and concerns of older people with asthma. METHODS: The Patient Asthma Concerns Tool (PACT) was developed from a pool of 55 items derived from a comprehensive literature review. After pilot and field testing, the initial 55 item questionnaire was administered to a community sample (n = 193), psychometrically tested, and refined to a 14 item PACT tool which was evaluated by a group of clinicians. RESULTS: The PACT was shown to have good content and construct validity and was well received by clinicians. The PACT also correlated well with the Juniper ACQ and Brooks' adherence score on related variables and showed good reliability with good-excellent Kappa and ICC scores. Internal consistency of factors was high, and the overall Cronbach's α was 0.70. CONCLUSION: The PACT questionnaire was shown to be a valid and reliable tool clinically and psychometrically. We intend to test it in primary care settings and anticipate that its use will assist health professionals to identify the needs and concerns of older patients with asthma and direct tailored asthma management accordingly.

Carrier screening for beta-thalassaemia: a review of international practice.

ß-thalassaemia is one of the most common single-gene inherited conditions in the world, and thalassaemia carrier screening is the most widely performed genetic screening test, occurring in many different countries. ß-thalassaemia carrier screening programmes provide a unique opportunity to compare the delivery of carrier screening programmes carried out in different cultural, religious and social contexts. This review compares the key characteristics of ß-thalassaemia carrier screening programmes implemented in countries across the world so that the differences and similarities between the programmes can be assessed. The manner in which thalassaemia carrier screening programmes are structured among different populations varies greatly in several aspects, including whether the programmes are mandatory or voluntary, the education and counselling provided and whether screening is offered pre-pregnancy or antenatally. National and international guidelines make recommendations on the most appropriate ways in which genetic carrier screening programmes should be conducted; however, these recommendations are not followed in many programmes. We discuss the implications for the ethical and acceptable implementation of population carrier screening and identify a paucity of research into the outcomes of thalassaemia screening programmes, despite the fact that thalassaemia screening is so commonly conducted.