International Perspectives of Extended Genetic Sequencing When Used as Part of Newborn Screening to Identify Cystic Fibrosis.

There is increasing interest in using extended genetic sequencing (EGS) in newborn screening (NBS) for cystic fibrosis (CF). How this is implemented will change the number of children being given an uncertain outcome of CRMS/CFSPID (cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome/CF Screen Positive Inconclusive Diagnosis), probable carrier results, and the number of missed CF diagnoses. An international survey of CF health professionals was used to gather views on two approaches to EGS-specific (may reduce detection of CRMS/CFSID but miss some CF cases) versus sensitive (may increase detection of CRMS/CFSPID but avoid missing more CF cases). Health professionals acknowledged the anxiety caused to parents (and health professionals) from the uncertainty surrounding the prognosis and management of CRMS/CFSPID. However, most preferred the sensitive approach, as overall, identifying more cases of CRMS/CFSPID was viewed as less physically and psychologically damaging than a missed case of CF. The importance of early diagnosis and treatment for CF to ensure better health outcomes and reducing diagnostic odysseys for parents were highlighted. A potential benefit to identifying more children with CRMS/CFSPID included increasing knowledge to obtain a better understanding of how these children should best be managed in the future.

Stakeholder Views of the Proposed Introduction of Next Generation Sequencing into the Cystic Fibrosis Screening Protocol in England.

The project aimed to gather, analyse, and compare the views of stakeholders about the proposed UK cystic fibrosis (CF) screening protocol incorporating next generation sequencing (NGS). The study design was based on principles of Q-methodology with a willingness-to-pay exercise. Participants were recruited from 12 CF centres in the UK. The study contained twenty-eight adults who have experience with CF (parents of children with CF (n = 21), including parents of children with CF transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS)/CF screen positive-inconclusive diagnosis (CFSPID), an uncertain outcome (n = 3), and adults with CF (n = 4)), and nine health professionals involved in caring for children with CF. Parents and health professionals expressed a preference for a sensitive approach to NGS. This was influenced by the importance participants placed on not missing any children with CF via screening and the balance of harm between missing a case of CF compared to picking up more children with an uncertain outcome (CRMS/CFSPID). Given the preference for a sensitive approach, the need for adequate explanations about potential outcomes including uncertainty (CFSPID) at the time of screening was emphasized. More research is needed to inform definitive guidelines for managing children with an uncertain outcome following CF screening.

Processing of positive newborn screening results: a qualitative exploration of current practice in England.

OBJECTIVE: To explore current communication practices for positive newborn screening results from the newborn bloodspot screening (NBS) laboratory to clinicians to highlight differences, understand how the pathways are implemented in practice, identify barriers and facilitators and make recommendations for future practice and research. DESIGN: A qualitative exploratory design was employed using semi-structured interviews. SETTING: Thirteen NBS laboratories in England. PARTICIPANTS: Seventy-one clinicians; 22 NBS laboratory staff across 13 laboratories and 49 members of relevant clinical teams were interviewed. RESULTS: Assurance of quality and consistency was a priority for all NBS laboratories. Findings indicated variation in approaches to communicating positive NBS results from laboratories to clinical teams. This was particularly evident for congenital hypothyroidism and was largely influenced by local arrangements, resources and the fact individual laboratories had detailed standard operating procedures for how they work. Obtaining feedback from clinical teams to the laboratory after the child had been seen could be challenging and time-consuming for those involved. Pathways for communicating carrier results for cystic fibrosis and sickle cell disease could be ambiguous and inconsistent which in turn could hamper the laboratories efforts to obtain timely feedback regarding whether or not the result had been communicated to the family. Communication pathways for positive NBS results between laboratories and clinical teams could therefore be time-consuming and resource-intensive. CONCLUSION: The importance placed on ensuring positive NBS results were communicated effectively and in a timely fashion from the laboratory to the clinical team was evident from all participants. However, variation existed in terms of the processes used to report positive NBS results to clinical teams and the people involved. Variant practice identified may reflect local needs, but more often reflected local resources and a more consistent 'best practice' approach is required, not just in the UK but perhaps globally. TRIAL REGISTRATION NUMBER: ISRCTN15330120.

Qualitative exploration of health professionals' experiences of communicating positive newborn bloodspot screening results for nine conditions in England.

OBJECTIVE: To explore health professionals' experiences of communicating positive newborn bloodspot screening (NBS) results, highlight differences, share good practice and make recommendations for future research. DESIGN: Qualitative exploratory design was employed using semi-structured interviews SETTING: Three National Health Service provider organisations in England PARTICIPANTS: Seventeen health professionals involved in communicating positive newborn bloodspot screening results to parents for all nine conditions currently included in the newborn bloodspot screening programme in England. RESULTS: Findings indicated variation in approaches to communicating positive newborn bloodspot screening results to parents, largely influenced by resources available and the lack of clear guidance. Health professionals emphasised the importance of communicating results to families in a way that is sensitive to their needs. However, many challenges hindered communication including logistical considerations; difficulty contacting the family and other health professionals; language barriers; parental reactions; resource considerations; lack of training; and insufficient time. CONCLUSION: Health professionals invest a lot of time and energy trying to ensure communication of positive newborn bloodspot screening results to families is done well. However, there continues to be great variation in the way these results are communicated to parents and this is largely influenced by resources available but also the lack of concrete guidance. How best to support health professionals undertaking this challenging and emotive task requires further exploration. We recommend evaluation of a more cohesive approach that meets the needs of parents and staff while being sensitive to the subtleties of each condition. TRIAL REGISTRATION NUMBER: ISRCTN15330120.

Help to Overcome Problems Effectively for Cancer Survivors: Development and Evaluation of a Digital Self-Management Program.

BACKGROUND: People living with cancer face numerous psychosocial challenges, including cancer-related fatigue, fear of recurrence, and depression. There is a lack of digital interventions tailored to the needs of people living with all types of cancer. We developed a 6-week, digital, peer-delivered, self-management program: iHOPE (Help to Overcome Problems Effectively; where 'i' indicates the digital version of the program). The program is underpinned by positive psychology and cognitive behavioral therapy to meet these psychosocial challenges. OBJECTIVE: This study aimed to assess the feasibility of the iHOPE program among people living with cancer. Program adherence and satisfaction along with changes in psychological distress and positive well-being were measured. METHODS: A pre-post, acceptability, and feasibility design was used. People living with cancer (N=114) were recruited via a national cancer charity in the United Kingdom and were given access to the iHOPE program. Demographic and other participant characteristics were recorded. Participants completed digital measures at baseline and the end of the 6-week program for depression, anxiety, cancer-related fatigue, cancer worry or fear of cancer recurrence, positive mental well-being, hope, gratitude, and health status. The website's system recorded data on the usage of the program. Satisfaction with the program was also measured. RESULTS: A total of 114 participants completed the baseline questionnaires. Of these, 70 people (61.4%) participated in all 6 sessions. The mean number of sessions undertaken was 5.0 (SD 1.5). Moreover, 44.7% (51/114) of participants completed at least three sessions and end-of-program outcome measures. A total of 59 participants completed the satisfaction questionnaire, where ≥90% (54/58) of participants reported that the program was easy to navigate and was well managed by the peer facilitators, and that they found the social networking tools useful. Preliminary efficacy testing among the 51 participants who completed baseline and postprogram outcome measures showed that postprogram scores decreased for depression, anxiety, cancer-related fatigue, and fear of recurrence (all P<.001) and increased for positive mental well-being (P<.001), hope (both P<.001), and gratitude (P=.02). CONCLUSIONS: The feasibility evidence is promising, showing that the peer-delivered digital iHOPE program is acceptable and practical. Implementation of the iHOPE program on a wider scale will incorporate further research and development to maximize the completion rates of the measures. Initial effectiveness data suggest positive impacts on important cancer-related quality of life and mental well-being outcomes. A randomized controlled trial design with a longer follow-up is needed to confirm the potential of the iHOPE program for improving mental and physical health outcomes for cancer survivors.

Rethinking Strategies for Positive Newborn Screening Result (NBS+) Delivery (ReSPoND): a process evaluation of co-designing interventions to minimise impact on parental emotional well-being and stress.

BACKGROUND: Newborn blood spot (NBS) screening seeks to prevent ill health, disability and death through early diagnosis and effective intervention. Each year, around 10,000 parents of babies born in England are given a positive NBS result indicating their child may be affected or carriers of one of the nine conditions currently screened for. Despite guidance, these results are inconsistently delivered to parents across geographical regions. There is evidence that many parents are dissatisfied with how NBS results are communicated to them and that poor communication practices can lead to various negative sequelae. The purpose of this study is to co-design, implement and undertake a process evaluation of new, co-designed interventions to improve delivery of initial positive NBS results to parents. METHODS: This mixed-methods study will use four phases with defined outputs. Family Systems Theory will form the theoretical basis for the study. The principles and methods of experience-based co-design will underpin intervention development. Normalisation Process Theory will underpin the process evaluation of the interventions co-designed to improve the delivery of positive NBS results to parents. An economic analysis will determine resource use and costs of current practice and of implementing the new co-designed interventions. The nominal group technique will be used to inform the selection of suitable outcome measures for a future evaluation study. DISCUSSION: The main output of the proposed study will be co-designed interventions for initial communication of positive NBS results to parents ready to be evaluated in a definitive evaluation study.The interventions, co-designed with parents, will help to minimise potential negative sequelae associated with poor communication practices by considering parental and staff experiences as well as healthcare challenges such as finite resources. In addition, information about indicative costs associated with different communication strategies will be determined.It is anticipated it may also be possible to extrapolate principles of good communication practices from the present study for the delivery of bad news to parents for children newly diagnosed with other conditions including cancer and other chronic conditions such as diabetes or epilepsy. TRIAL REGISTRATION: ISRCTN 15330120 date of registration 17/01/2018.

Web-based self-management for young cancer survivors: consideration of user requirements and barriers to implementation.

PURPOSE: As the population of young cancer survivors increases, there is a need to develop alternative ways of providing post-treatment support. Online systems potentially offer self-management and e-learning support following cancer treatment. This research aims to explore the self-management support needs of teenage and young adult cancer survivors and consider whether those needs can be met through a web-based self-management resource. METHODS: A mixed methods approach was adopted including an online survey (n = 24), focus groups and interviews with teenage and young adult cancer survivors (n = 7) and interviews with parents of survivors (n = 6), information technology specialists (n = 8) and clinical, nursing and social work professionals (n = 11). RESULTS: All stakeholders were supportive of web-based self-management to meet information and support needs that would supplement continued direct interaction with clinical staff. Barriers to implementation were identified in terms of risks to young people, governance issues and the challenges of providing a long-term service. CONCLUSION: Computer access and use amongst teenagers and young adults is commonplace, and there is an expectation that self-management needs will be met at least partially online in the future. There is a desire for online social support through peer interaction as well personal developmental and clinical management. These elements may need to be run through different systems to cater for governance requirements. IMPLICATIONS FOR CANCER SURVIVORS: An online self-management system could provide support at a number of different levels. The barriers to implementation should be addressed, to ensure that survivors can be supported in this way in the future.

Passive haptics in a knee arthroscopy simulator: is it valid for core skills training?

Previous investigation of a cost-effective virtual reality arthroscopic training system, the Sheffield Knee Arthroscopy Training System (SKATS), indicated the desirability of including haptic feedback. A formal task analysis confirmed the importance of knee positioning as a core skill for trainees learning to navigate the knee arthroscopically. The system cost and existing limb interface, which permits knee positioning, would be compromised by the addition of commercial active haptic devices available currently. The validation results obtained when passive haptic feedback (resistance provided by physical structures) is provided indicate that SKATS has construct, predictive and face validity for navigation and triangulation training. When tested using SKATS, experienced surgeons (n = 11) performed significantly faster, located significantly more pathologies, and showed significantly shorter arthroscope path lengths than a less experienced surgeon cohort (n = 12). After SKATS training sessions, novices (n = 3) showed significant improvements in: task completion time, shorter arthroscope path lengths, shorter probe path lengths, and fewer arthroscope tip contacts. Main improvements occurred after the first two practice sessions, indicating rapid familiarization and a training effect. Feedback from questionnaires completed by orthopaedic surgeons indicates that the system has face validity for its remit of basic arthroscopic training.

Ensuring the usability of a knee arthroscopy simulator.

There is limited research considering the usability of medical virtual environments. Usability evaluation is an essential validation phase that considers the extent to which a product achieves its specific goals, with effectiveness, efficiency and satisfaction. A four-stage iterative approach is adopted to enhance usability in the development of a knee arthroscopy training system. This process has drawn attention to issues that may impede system usability for example non-conformity to platform conventions, and visibility of the system status. The process highlights features that computer scientists can overlook when working closely with a system but that are essential to user acceptance and effective application.

A flexible virtual reality tutorial for the training and assessment of arthroscopic skills.

Through definition of a comprehensive tutorial model, the Warwick, Imperial and Sheffield Haptic Knee Arthroscopy Training System (WISHKATS) aims to provide independent, flexible and consistent training and assessment. The intention is to satisfy user acceptance by limiting the constraints by which the system can be utilised, as well as demonstrating validity and reliability. System use can either be under the guidance and feedback offered by the system or of a senior surgeon. Objective metrics are defined for performance feedback and formal assessment.

A part-task approach to haptic knee arthroscopy training.

This paper describes the research behind a part-task approach to both the development of, and the training offered, by a virtual reality simulator for knee arthroscopy. An ethnographic approach has been taken to examine the nature of task performance and the current training of the arthroscopic diagnosis of the knee. This Human Factors research is used to support the development of WISHKATS. The design addresses the challenge of technically producing haptic feedback for a knee surgery simulator whilst offering sufficient fidelity to train the necessary skills and conform to traditional surgical training.

Engineering requirements for a haptic simulator for knee arthroscopy training.

This paper describes the initial development of an innovative haptic device that will be integrated into an existing virtual reality training system for knee arthroscopy. The resulting system will be called WISHKATS (Warwick, Imperial, Sheffield Knee Arthroscopy Training System). This haptic device will enable the trainee to feel realistic forces on the probing tool and will work together with software, which will simulate tissue deformation. The proposed haptic system is a compact, multi-degree of freedom, motorised mechanism with force sensors, and will be used to simulate the diagnostic aspects of knee arthroscopy. There are a number of problems associated with the development of a suitable haptic system and this paper explores the engineering requirements of such a device.

Objective surgical performance evaluation based on haptic feedback.

In order to develop effective virtual reality training systems for surgery there is a need to provide appropriate sensory and performance feedback to the user. This paper aims to demonstrate a method by which performance data can be collected. This is used to investigate the effect of haptic feedback on performance. A PHANTOM desktop device was used in conjunction with a suturing simulation A pair of needle-holders was instrumented with strain gauges and attached to the stylus of the PHANTOM allowing the measurement of force application and time. Suturing performance was evaluated in terms of stitch completion time, peak force application, and the length and straightness of the stitch. The effect of the level of force feedback provided by the simulation and performance over time was considered. The results indicate that the presence of force feedback affected task completion time, peak force application and the straightness of the stitch. Task completion time was shown to increase with the level of force feedback provided. Performance was seen to improve over time in terms of task completion time and the accuracy ofthe stitch. The work has examined how the presence and level of force feedback affects performance of a simple task. The accuracy of haptic feedback is important in the design of surgical simulation systems to ensure effective training transfer. A data collection method by which objective performance evaluation can be made is demonstrated. The method can be applied to training using bench models, simulations and potentially in the operating theatre.