Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.

BACKGROUND: Trio exome sequencing can be used to investigate congenital abnormalities identified on pregnancy ultrasound, but its use in an Australian context has not been assessed. AIMS: Assess clinical outcomes and changes in management after expedited genomic testing in the prenatal period to guide the development of a model for widespread implementation. MATERIALS AND METHODS: Forty-three prospective referrals for whole exome sequencing, including 40 trios (parents and pregnancy), two singletons and one duo were assessed in a tertiary hospital setting with access to a state-wide pathology laboratory. Diagnostic yield, turn-around time (TAT), gestational age at reporting, pregnancy outcome, change in management and future pregnancy status were assessed for each family. RESULTS: A clinically significant genomic diagnosis was made in 15/43 pregnancies (35%), with an average TAT of 12 days. Gestational age at time of report ranged from 16 + 5 to 31 + 6 weeks (median 21 + 3 weeks). Molecular diagnoses included neuromuscular and skeletal disorders, RASopathies and a range of other rare Mendelian disorders. The majority of families actively used the results in pregnancy decision making as well as in management of future pregnancies. CONCLUSIONS: Rapid second trimester prenatal genomic testing can be successfully delivered to investigate structural abnormalities in pregnancy, providing crucial guidance for current and future pregnancy management. The time-sensitive nature of this testing requires close laboratory and clinical collaboration to ensure appropriate referral and result communication. We found the establishment of a prenatal coordinator role and dedicated reporting team to be important facilitators. We propose this as a model for genomic testing in other prenatal services.

Social, health and economic impact of COVID-19: Healthy Ageing In Scotland (HAGIS) - a protocol for a mixed-methods study.

INTRODUCTION: Public health responses to the COVID-19 pandemic have reaped adverse physical, psychological, social and economic effects, with older adults disproportionally affected. Psychological consequences of the pandemic include fear, worry and anxiety. COVID-19 fear may impact individuals' mitigation behaviours, influencing their willingness to (re)engage in health, social and economic behaviours. This study seeks (1) to develop a robust and evidence-based questionnaire to measure the prevalence of COVID-19 fear among older adults (aged ≥50) in Scotland and (2) to examine the impact of COVID-19 fear on the willingness of older adults to (re)engage across health, social and economic domains as society adjusts to the 'new normal' and inform policy and practice. METHODS AND ANALYSIS: This mixed-method study includes a large-scale multimodal survey, focus groups and interviews with older adults (aged ≥50) living in Scotland, and an email-based 'e-Delphi' consultation with professionals working with older adults. The COVID-19 fear scale was developed and validated using exploratory and confirmatory factor analyses. Survey data will be analysed using descriptive and inferential statistics. Thematic analysis will be used to analyse qualitative data. Survey and qualitative findings will be triangulated and used as the starting point for an 'e-Delphi' consensus consultation with expert stakeholders. ETHICS AND DISSEMINATION: Ethical approval has been obtained from the University of Stirling for multimodal survey development, fieldwork methodology and data management. Anonymised survey data will be deposited with the UK Data Service, with a link provided via the Gateway to Global Ageing. Qualitative data will be deposited with the University of Stirling online digital repository-DataSTORRE. A dedicated work package will oversee dissemination via a coproduced project website, conference presentations, rapid reports and national and international peer-reviewed journal articles. There is planned engagement with Scottish and UK policy makers to contribute to the UK government's COVID-19 recovery strategy.

Australian guidelines for the management of children with achondroplasia.

Achondroplasia is the most common form of skeletal dysplasia. In addition to altered growth, children and young people with achondroplasia may experience medical complications, develop and function differently to others and require psychosocial support. International, European and American consensus guidelines have been developed for the management of achondroplasia. The Australian focused guidelines presented here are designed to complement those existing guidelines. They aim to provide core care recommendations for families and clinicians, consolidate key resources for the management of children with achondroplasia, facilitate communication between specialist, local teams and families and support delivery of high-quality care regardless of setting and geographical location. The guidelines include a series of consensus statements, developed using a modified Delphi process. These statements are supported by the best available evidence assessed using the National Health and Medicine Research Council's criteria for Level of Evidence and their Grading of Recommendations Assessment, Development and Evaluation (GRADE). Additionally, age specific guides are presented that focus on the key domains of growth, medical, development, psychosocial and community. The guidelines are intended for use by health professionals and children and young people with achondroplasia and their families living in Australia.

Evaluation of the Call for a Kit intervention to increase bowel cancer screening uptake in Lancashire, England.

OBJECTIVE: To evaluate the 'Call for a Kit' health promotion intervention that was initiated in Lancashire, England to improve bowel cancer screening uptake. METHODS: Within the intervention, screening non-responders are called and invited to attend a consultation with a health promotion team member at their primary care practice. In this audit, we analysed the proportion of those contacted who attended the in-person clinic versus those who received a phone consultation, the number returning a test kit from in-person versus phone consultations, and the extent to which test kit return was moderated by sociodemographic characteristics. RESULTS: In 2019, 68 practices participated in the intervention which led to 10,772 individuals being contacted; 2464 accepted the invitation to an in-person consultation, of whom 1943 attended. A further 1065 agreed to and attended a consultation over the phone. The 3008 consultations resulted in 2890 test kits being ordered, of which 1608 (55.6%) were returned. The intervention therefore yielded a 14.9% response rate in the total cohort; 71.5% of test kits came from individuals attending the in-person consultation. Women and those registered with a practice in socioeconomically deprived areas were less likely to return the test kit. Individuals with a black, mixed or a non-Indian/Pakistani Asian ethnic background were significantly more likely to accept the offer of an in-person consultation and return the test kit. CONCLUSION: Our analysis demonstrated the strong likelihood of people returning a test kit after an in-person appointment but also the usefulness of using phone consultations as a safety net for people unable or unwilling to attend in-person clinics.

Investigating the Effects of Threatening Language, Message Framing, and Reactance in Opt-Out Organ Donation Campaigns.

BACKGROUND: Under opt-out organ donation policies, individuals are automatically considered to have agreed to donate their organs in the absence of a recorded opt-out decision. Growing evidence suggests that the language used within organ donation campaigns influences donor intentions and decision-making. PURPOSE: As awareness campaigns to promote opt-out consent in the UK are ongoing, the objectives of this study were to investigate the effect of language and message framing used in opt-out organ donation campaigns on donor intentions and psychological reactance. METHODS: Individuals from Scotland and England (N = 1,350) completed this online experiment. Participants were randomized to view one of four messages, designed in the format of a newspaper article, which described the upcoming opt-out system. This followed a 2 × 2 design whereby the degree of threatening language (high threat vs. low threat) and message framing (loss vs. gain) of the newspaper article was experimentally manipulated. Measures of intention (pre-exposure and postexposure) and postmessage reactance (threat to freedom and anger and counter-arguing) were obtained. RESULTS: A mixed analysis of variance revealed a significant Group × Time interaction on donor intentions; post hoc analysis revealed that intentions significantly decreased for individuals exposed to the High threat × Loss frame article but significantly increased for those exposed to the High threat × Gain frame article. CONCLUSIONS: In campaigns to promote opt-out legislation, high-threat language combined with loss-frame messages should be avoided. If high-threat language is used, gain-frame messaging that highlights the benefits of organ donation should also be incorporated.

The Newcastle ENDOPREM™: a validated patient reported experience measure for gastrointestinal endoscopy.

OBJECTIVES: Measuring patient experience of gastrointestinal (GI) procedures is a key component of evaluation of quality of care. Current measures of patient experience within GI endoscopy are largely clinician derived and measured; however, these do not fully represent the experiences of patients themselves. It is important to measure the entirety of experience and not just experience directly during the procedure. We aimed to develop a patient-reported experience measure (PREM) for GI procedures. DESIGN: Phase 1: semi-structured interviews were conducted in patients who had recently undergone GI endoscopy or CT colonography (CTC) (included as a comparator). Thematic analysis identified the aspects of experience important to patients. Phase 2: a question bank was developed from phase 1 findings, and iteratively refined through rounds of cognitive interviews with patients who had undergone GI procedures, resulting in a pilot PREM. Phase 3: patients who had attended for GI endoscopy or CTC were invited to complete the PREM. Psychometric properties were investigated. Phase 4 involved item reduction and refinement. RESULTS: Phase 1: interviews with 35 patients identified six overarching themes: anxiety, expectations, information & communication, embarrassment & dignity, choice & control and comfort. Phase 2: cognitive interviews refined questionnaire items and response options. Phase 3: the PREM was distributed to 1650 patients with 799 completing (48%). Psychometric properties were found to be robust. Phase 4: final questionnaire refined including 54 questions assessing patient experience across five temporal procedural stages. CONCLUSION: This manuscript gives an overview of the development and validation of the Newcastle ENDOPREM™, which assesses all aspects of the GI procedure experience from the patient perspective. It may be used to measure patient experience in clinical care and, in research, to compare patients' experiences of different endoscopic interventions.

Ethnic inequalities in older adults bowel cancer awareness: findings from a community survey conducted in an ethnically diverse region in England.

BACKGROUND: To date, research exploring the public's awareness of bowel cancer has taken place with predominantly white populations. To enhance our understanding of how bowel cancer awareness varies between ethnic groups, and inform the development of targeted interventions, we conducted a questionnaire study across three ethnically diverse regions in Greater London, England. METHODS: Data were collected using an adapted version of the bowel cancer awareness measure. Eligible adults were individuals, aged 60+ years, who were eligible for screening. Participants were recruited and surveyed, verbally, by staff working at 40 community pharmacies in Northwest London, the Harrow Somali association, and St. Mark's Bowel Cancer Screening Centre. Associations between risk factor, symptom and screening awareness scores and ethnicity were assessed using multivariate regression. RESULTS: 1013 adults, aged 60+ years, completed the questionnaire; half were of a Black, Asian or Minority ethnic group background (n = 507; 50.0%). Participants recognised a mean average of 4.27 of 9 symptoms and 3.99 of 10 risk factors. Symptom awareness was significantly lower among all ethnic minority groups (all p's < 0.05), while risk factor awareness was lower for Afro-Caribbean and Somali adults, specifically (both p's < 0.05). One in three adults (n = 722; 29.7%) did not know there is a Bowel Cancer Screening Programme. Bowel screening awareness was particularly low among Afro-Caribbean and Somali adults (both p's < 0.05). CONCLUSION: Awareness of bowel cancer symptoms, risk factors and screening varies by ethnicity. Interventions should be targeted towards specific groups for whom awareness of screening and risk factors is low.

Paediatric genomic testing: Navigating medicare rebatable genomic testing.

Genomic testing for a genetic diagnosis is becoming standard of care for many children, especially those with a syndromal intellectual disability. While previously this type of specialised testing was performed mainly by clinical genetics teams, it is increasingly being 'mainstreamed' into standard paediatric care. With the introduction of a new Medicare rebate for genomic testing in May 2020, this type of testing is now available for paediatricians to order, in consultation with clinical genetics. Children must be aged less than 10 years with facial dysmorphism and multiple congenital abnormalities or have global developmental delay or moderate to severe intellectual disability. This rebate should increase the likelihood of a genetic diagnosis, with accompanying benefits for patient management, reproductive planning and diagnostic certainty. Similar to the introduction of chromosomal microarray into mainstream paediatrics, this genomic testing will increase the number of genetic diagnoses, however, will also yield more variants of uncertain significance, incidental findings, and negative results. This paper aims to guide paediatricians through the process of genomic testing, and represents the combined expertise of educators, clinical geneticists, paediatricians and genomic pathologists around Australia. Its purpose is to help paediatricians navigate choosing the right genomic test, consenting patients and understanding the possible outcomes of testing.

Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants.

Axenfeld-Rieger syndrome is a genetic condition characterized by ocular and systemic features and is most commonly caused by variants in the FOXC1 or PITX2 genes. Facial dysmorphism is part of the syndrome but the differences between both genes have never been systematically assessed. Here, 11 facial traits commonly reported in Axenfeld-Rieger syndrome were assessed by five clinical geneticists blinded to the molecular diagnosis. Individuals were drawn from the Australian and New Zealand Registry of Advanced Glaucoma in Australia or recruited through the Genetic and Ophthalmology Unit of l'Azienda Socio-Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda in Italy. Thirty-four individuals from 18 families were included. FOXC1 variants were present in 64.7% of individuals and PITX2 variants in 35.3% of individuals. A thin upper lip (55.9%) and a prominent forehead (41.2%) were common facial features shared between both genes. Hypertelorism/telecanthus (81.8% vs 25.0%, p = 0.002) and low-set ears (31.8% vs 0.0%, p = 0.036) were significantly more prevalent in individuals with FOXC1 variants compared with PITX2 variants. These findings may assist clinicians in reaching correct clinical and molecular diagnoses, and providing appropriate genetic counseling.

Patient experience of gastrointestinal endoscopy: informing the development of the Newcastle ENDOPREM™.

BACKGROUND: Measuring patient experience is important for evaluating the quality of patient care, identifying aspects requiring improvement and optimising patient outcomes. Patient Reported Experience Measures (PREMs) should, ideally, be patient derived, however no such PREMs for gastrointestinal (GI) endoscopy exist. This study explored the experiences of patients undergoing GI endoscopy and CT colonography (CTC) in order to: identify aspects of care important to them; determine whether the same themes are relevant across investigative modalities; develop the framework for a GI endoscopy PREM. METHODS: Patients aged ≥18 years who had undergone oesophagogastroduodenoscopy (OGD), colonoscopy or CTC for symptoms or surveillance (but not within the national bowel cancer screening programme) in one hospital were invited to participate in semi-structured interviews. Recruitment continued until data saturation. Inductive thematic analysis was undertaken. RESULTS: 35 patients were interviewed (15 OGD, 10 colonoscopy, 10 CTC). Most patients described their experience chronologically, and five 'procedural stages' were evident: before attending for the test; preparing for the test; at the hospital, before the test; during the test; after the test. Six themes were identified: anxiety; expectations; choice & control; communication & information; comfort; embarrassment & dignity. These were present for all three procedures but not all procedure stages. Some themes were inter-related (eg, expectations & anxiety; communication & anxiety). CONCLUSION: We identified six key themes encapsulating patient experience of GI procedures and these themes were evident for all procedures and across multiple procedure stages. These findings will be used to inform the development of the Newcastle ENDOPREM™.

'It's like being conscripted, one volunteer is better than 10 pressed men': A qualitative study into the views of people who plan to opt-out of organ donation.

Objectives To overcome the shortage of organ donors, Scotland and England are introducing an opt-out organ donor registration system in 2020. This means individuals will be automatically considered to consent for donation unless they actively opt-out of the register. Research has found that emotional barriers play a key role in donor decisions under opt-in legislation, yet little is known about factors that influence donor decisions under opt-out consent. Our objectives were to investigate attitudes towards organ donation and opt-out consent from individuals who plan to opt-out, and to explore the reasons why they plan to opt-out. Design Qualitative interview study. Methods Semi-structured interviews were conducted with 15 individuals from Scotland (n = 14) and England (n = 1) who self-reported the intention to opt-out of the register following the legislative change to opt-out. The interviews were transcribed verbatim and analysed using thematic analysis. Results Three main themes were identified: (1) consent versus coercion, which describes the perception of freedom of choice under an opt-in system and fears of 'government interference' and threatened autonomy under opt-out, (2) self-protection, encompassing fears of medical mistrust, bodily integrity concerns, and apprehension regarding the recipient selection process, and lastly, (3) 'riddled with pitfalls', which includes the notion that opt-out consent may increase susceptibility of stigma and reproach when registering an opt-out decision. Conclusions This study reinforces existing opt-in literature surrounding medical mistrust and bodily integrity concerns. A threat to one's autonomous choice and heightened reactance arising from perceptions of unwarranted government control have emerged as novel barriers. Statement of contribution What is already known about this subject? Although around 90% of individuals in the United Kingdom support organ donation, just 40% are actively registered as donors. As part of measures to improve rates of organ transplantation, Scotland and England are moving to an opt-out organ donation consent system in 2020. Existing research has shown that feelings and emotions are important factors that influence donor relevant decisions under the current opt-in system, but little research has explored potential deterrents under the new plans for opt-out consent. Minimizing the number of people opting out of the donor register is key to ensure sustained rates of transplantation. What does this study add? This study explored why people plan to opt-out of the new system in Scotland and England. Medical mistrust and bodily integrity concerns remain as salient barriers under opt-out laws. Fears of unwarranted government control and a perceived threat to one's freedom of choice emerged as a novel barrier.

Preference for Deliberation and Perceived Usefulness of Standard- and Narrative-Style Leaflet Designs: Implications for Equitable Cancer-Screening Communication.

BACKGROUND: In the UK, cancer-screening invitations are mailed with information styled in a standard, didactic way to allow for informed choice. Information processing theory suggests this "standard style" could be more appealing to people who prefer deliberative thinking. People less likely to engage in deliberative thinking may be disenfranchised by the design of current standard-style information. PURPOSE: To examine the distribution of preference for deliberative thinking across demographic groups (Study 1) and explore associations between preference for deliberative thinking and perceived usefulness of standard- and narrative-style screening information (Study 2). METHODS: In Study 1, adults aged 45-59 (n = 4,241) were mailed a questionnaire via primary care assessing preference for deliberative thinking and demographic characteristics. In Study 2, a separate cohort of adults aged 45-59 (n = 2,058) were mailed standard- and narrative-style leaflets and a questionnaire assessing demographic characteristics, preference for deliberative thinking, and perceived leaflet usefulness. Data were analyzed using multiple regression. RESULTS: In Study 1 (n = 1,783) and Study 2 (n = 650), having lower socioeconomic status, being a women, and being of nonwhite ethnicity was associated with lower preference for deliberative thinking. In Study 2, the standard-style leaflet was perceived as less useful among participants with lower preference for deliberative thinking, while perceived usefulness of the narrative-style leaflet did not differ by preference for deliberative thinking. CONCLUSIONS: Information leaflets using a standard style may disadvantage women and those experiencing greater socioeconomic deprivation. More work is required to identify design styles that have a greater appeal for people with low preference for deliberative thinking.

Predictors of intention translation in flexible sigmoidoscopy screening for colorectal cancer.

OBJECTIVE: This prospective study aimed to identify predictors of intention and subsequent attendance of flexible sigmoidoscopy screening using constructs derived from the Health Belief Model (HBM). METHOD: A total of 4,330 people aged 54 years and registered at 1 of 83 participating English general practices were sent a preinvitation questionnaire to assess sociodemographics, HBM variables including perceived benefits, barriers, seriousness, health motivation, and external cues to action as well a range of other constructs and personal characteristics known to relate to cancer screening. RESULTS: Of the 1,578 respondents (36.4%), 1,555 (98.5%) answered the intention question: 52.9% stated definitely yes, 38.1% probably yes, 6.8% probably not, and 2.2% definitely not. Intentions were positively associated with a higher score on a scale of benefits (odds ratio [OR] = 4.62; 95% confidence intervals [CI; 3.24, 6.59]) and health motivation, that is, interest in other ways of preventing colorectal cancer (OR = 2.61; 95% CI [1.62, 4.22]), while a higher score on perceived barriers (OR = 0.19; 95% CI [0.12, 0.31]) and currently following recommended healthy lifestyle behaviors (OR = 0.31; 95% CI [0.16, 0.59]) were negatively associated. Attendance was verified for 922 intenders (65.2%) of whom 737 (79.9%) attended. Attendance was predicted by health motivation (OR = 1.75; 95% CI [1.07, 2.86]), perceived benefits (OR = 1.82; 95% CI [1.37, 2.43]), perceived barriers (OR = 0.47; 95% CI [0.32, 0.69]), individual-level deprivation (OR = 0.26; 95% CI [0.14, 0.50]), and having diabetes (OR = 0.48; 95% CI [0.25, 0.94]). CONCLUSION: This study supported the usefulness of the HBM in predicting cancer screening and was further enhanced by adding non-HBM variables such as individual socioeconomic deprivation and comorbidities. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Coffin-Siris syndrome (CSS, MIM#135900) is a congenital disorder characterized by coarse facial features, intellectual disability, and hypoplasia of the fifth digit and nails. Pathogenic variants for CSS have been found in genes encoding proteins in the BAF (BRG1-associated factor) chromatin-remodeling complex. To date, more than 150 CSS patients with pathogenic variants in nine BAF-related genes have been reported. We previously reported 71 patients of whom 39 had pathogenic variants. Since then, we have recruited an additional 182 CSS-suspected patients. We performed comprehensive genetic analysis on these 182 patients and on the previously unresolved 32 patients, targeting pathogenic single nucleotide variants, short insertions/deletions and copy number variations (CNVs). We confirmed 78 pathogenic variations in 78 patients. Pathogenic variations in ARID1B, SMARCB1, SMARCA4, ARID1A, SOX11, SMARCE1, and PHF6 were identified in 48, 8, 7, 6, 4, 1, and 1 patients, respectively. In addition, we found three CNVs including SMARCA2. Of particular note, we found a partial deletion of SMARCB1 in one CSS patient and we thoroughly investigated the resulting abnormal transcripts.

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Pathogenic variants in the X-linked gene ZC4H2, which encodes a zinc-finger protein, cause an infrequently described syndromic form of arthrogryposis multiplex congenita (AMC) with central and peripheral nervous system involvement. We present genetic and detailed phenotypic information on 23 newly identified families and simplex cases that include 19 affected females from 18 families and 14 affected males from nine families. Of note, the 15 females with deleterious de novo ZC4H2 variants presented with phenotypes ranging from mild to severe, and their clinical features overlapped with those seen in affected males. By contrast, of the nine carrier females with inherited ZC4H2 missense variants that were deleterious in affected male relatives, four were symptomatic. We also compared clinical phenotypes with previously published cases of both sexes and provide an overview on 48 males and 57 females from 42 families. The spectrum of ZC4H2 defects comprises novel and recurrent mostly inherited missense variants in affected males, and de novo splicing, frameshift, nonsense, and partial ZC4H2 deletions in affected females. Pathogenicity of two newly identified missense variants was further supported by studies in zebrafish. We propose ZC4H2 as a good candidate for early genetic testing of males and females with a clinical suspicion of fetal hypo-/akinesia and/or (neurogenic) AMC.

The impact of descriptive norms on motivation to participate in cancer screening - Evidence from online experiments.

OBJECTIVE: The current study tested in two online experiments whether manipulating normative beliefs about cancer screening uptake increases intention to attend colorectal screening among previously disinclined individuals. METHODS: 2461 men and women from an Internet panel (Experiment 1 N = 1032; Experiment 2, N = 1423) who initially stated that they did not intend to take up screening were asked to guess how many men and women they believe to get screened for colorectal cancer. Across participants, we varied the presence/absence of feedback on the participant's estimate, as well as the stated proportion of men and women doing the screening test. RESULTS: Across the two experiments, we found that receiving one of the experimental messages stating that uptake is higher than estimated significantly increased the proportion of disinclined men and women becoming intenders. While, we found a positive relationship between the communicated uptake and screening intentions, we did not find evidence that providing feedback on the estimate has an added benefit. CONCLUSION: Screening intention can be effectively manipulated through a high uptake message. PRACTICE IMPLICATIONS: Communication of high screening uptake is an easy and effective way to motivate disinclined individuals to engage in colorectal cancer screening.

Using specialist screening practitioners (SSPs) to increase uptake of bowel scope (flexible sigmoidoscopy) screening: results of a feasibility single-stage phase II randomised trial.

OBJECTIVE: To determine the feasibility of specialist screening practitioners (SSPs) offering patient navigation (PN) to facilitate uptake of bowel scope screening (BSS) among patients who do not confirm or attend their appointment. DESIGN: A single-stage phase II trial. SETTING: South Tyneside District Hospital, Tyne and Wear, England, UK. PARTICIPANTS: Individuals invited for BSS at South Tyneside District Hospital during the 6-month recruitment period were invited to participate in the study. INTERVENTION: Consenting individuals were randomly assigned to either the PN intervention or usual care group in a 4:1 ratio. The intervention involved BSS non-attenders receiving a phone call from an SSP to elicit their reasons for non-attendance and offer educational, practical and emotional support as required. If requested by the patient, another BSS appointment was then scheduled. PRIMARY OUTCOME MEASURE: The number of non-attenders in the intervention group who were navigated and then rebooked and attended their new BSS appointment. SECONDARY OUTCOME MEASURES: Barriers to BSS attendance, patient-reported outcomes including informed choice and satisfaction with BSS and the PN intervention, reasons for study non-participation, SSPs' evaluation of the PN process and a cost analysis. RESULTS: Of those invited to take part (n=1050), 152 (14.5%) were randomised into the study: PN intervention=109; usual care=43. Most participants attended their BSS appointment (PN: 79.8%; control: 79.1%) leaving 22 eligible for PN: only two were successfully contacted. SSPs were confident in delivering PN, but were concerned that low BSS awareness and information overload may have deterred patients from taking part in the study. Difficulty contacting patients was reported as a burden to their workload. CONCLUSIONS: PN, as implemented, was not a feasible intervention to increase BSS uptake in South Tyneside. Interventions to increase BSS awareness may be better suited to this population. TRIAL REGISTRATION NUMBER: ISRCTN13314752; Results.

Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

The original version of this Article contained an error in the spelling of the author Siddharth Banka, which was incorrectly given as Siddhart Banka. This has now been corrected in both the PDF and HTML versions of the Article.

Rapid review of factors associated with flexible sigmoidoscopy screening use.

Flexible sigmoidoscopy (FS) screening has been shown to reduce colorectal cancer (CRC) incidence and mortality among screened adults. The aim of this review was to identify patient-related factors associated with the screening test's use. We searched PubMed for studies that examined the association between FS screening use and one or more factors. To determine the eligibility of studies, we first reviewed titles, then abstracts, and finally the full paper. We started with a narrow search, which we expanded successively (by adding 'OR' terms) until the number of new publications eligible after abstract review was <1% of the total number of publications. We then abstracted factors from eligible papers and reported the number of times each was found to be positively or negatively associated with FS screening use. We identified 42 papers, most of which reported studies conducted in the United States of America (n = 21, 50%) and the United Kingdom (n = 13, 31%). Across studies, a wide range of factors were examined (n = 123), almost half of which were found to be associated with FS screening use at least once (n = 60). Sociodemographic and health and lifestyle factors that were frequently positively associated with FS screening use included: male gender, higher socioeconomic status and a family history of CRC. Frequently positively associated psychosocial factors included low perceived barriers and high perceived benefits. Findings suggest that future research should focus on developing a theoretical framework of cancer screening behaviour to allow a greater level of consistency and specificity in measuring key constructs.

Testing active choice for screening practitioner's gender in endoscopy among disinclined women: An online experiment.

OBJECTIVES: A large proportion of women have a preference for a same-gender endoscopy practitioner. We tested how information about practitioner gender affected intention to have bowel scope screening in a sample of women disinclined to have the test. METHODS: In an online experimental survey, women aged 35-54 living in England who did not intend to participate in bowel scope screening (N = 1060) were randomised to one of four experimental conditions: (1) control (practitioner's gender is unknown), (2) opposite-gender (male practitioner by default), (3) same gender (female practitioner by default), and (4) active choice (the patient could choose the gender of the practitioner). Intention was measured following the interventions. RESULTS: Of 1010 (95.3%) women who completed the survey, most were White-British (83.6%), and working (63.3%). Compared with control, both active choice and same-gender conditions increased intention among disinclined women (9.3% vs. 16.0% and 17.9%; OR: 1.85; 95% CI: 1.07-3.20 and OR: 2.07; 95% CI: 1.23-3.50). There were no differences in intention between the opposite-gender and control conditions (9.8% vs. 9.3%; OR: 1.06; 95% CI: 0.60-1.90) or the active choice and same-gender conditions (16.0% vs. 17.9%: OR: 0.89; 95% CI: 0.55-1.46, using same gender as baseline). CONCLUSIONS: Offering disinclined women a same-gender practitioner, either by choice or default, increased subsequent intention, while an opposite gender default did not negatively affect intention. Reducing uncertainty about gender of practitioner could positively affect uptake in women, and should be tested in a randomised controlled trial.