'A group of totally awesome people who do stuff' - a qualitative descriptive study of a children and young people's patient and public involvement endeavour.

BACKGROUND: In 2013, the Cambridge Clinical Research Facility (CCRF) set up a Children's Non-Executive Research Board to advise on service and facility development and research involving children and young people (CYP). In 2015, the Children's Experiences of Engaging in Research study (CHEER) was conceived to explore the Children's Board as a patient and public involvement initiative. AIM: To explore the views of CYP, staff and parents involved in the Children's Board with the view to describe their experiences of the selected mechanism of involvement (Children's Board) within the context of operation (CCRF). METHODS: A qualitative descriptive methodology involving qualitative content analysis of semi-structured interviews was used to derive descriptive summaries of the interview data. SETTING AND PARTICIPANTS: Interviews were carried out with staff (n = 5), children (n = 2) and parents (n = 2) who participated in the first or second Children's Board meetings. RESULTS: Twelve descriptive summaries emerged: (1) CCRF 'role' perspective (2) purpose, remit and future direction (3) aspirations (4) learning as reciprocation (5) regular meetings, contact and feedback (6) expectation setting and ground rules (7) culture of PPI (8) surprise, underestimation and self-selection (9) reciprocity, incentivisation and participation (10) practicalities, timing and barriers (11) parental roles (12) event structure. These highlighted the importance of selecting the right mechanism of involvement in relation to context for involvement and the reductive biases adults and healthcare providers may unconsciously hold. Both of these aspects may affect the efficacy of PPI endeavours with CYP. DISCUSSION AND CONCLUSIONS: Mechanisms by which CYP are involved in research should be considered from the outset; taking into consideration both the setting and contextual features. Contextual and process factors important in the adult PPI realm were generally observed in this PPI initiative with CYP; however further research is required to explore unconscious biases and reductive perceptions in adult facilitators

Democratising or disrupting diagnosis? Ethical issues raised by the use of AI tools for rare disease diagnosis

Computational phenotyping (CP) technology uses facial recognition algorithms to classify and potentially diagnose rare genetic disorders on the basis of digitised facial images. This AI technology has a number of research as well as clinical applications, such as supporting diagnostic decision-making. Using the example of CP, we examine stakeholders’ views of the benefits and costs of using AI as a diagnostic tool within the clinic. Through a series of in-depth interviews (n ​= ​20) with: clinicians, clinical researchers, data scientists, industry and support group representatives, we report stakeholder views regarding the adoption of this technology in a clinical setting. While most interviewees were supportive of employing CP as a diagnostic tool in some capacity we observed ambivalence around the potential for artificial intelligence to overcome diagnostic uncertainty in a clinical context. Thus, while there was widespread agreement amongst interviewees concerning the public benefits of AI assisted diagnosis, namely, its potential to increase diagnostic yield and enable faster more objective and accurate diagnoses by up skilling non specialists and thereby enabling access to diagnosis that is potentially lacking, interviewees also raised concerns about ensuring algorithmic reliability, expunging algorithmic bias and that the use of AI could result in deskilling the specialist clinical workforce. We conclude that, prior to widespread clinical implementation, on-going reflection is needed regarding the trade-offs required to determine acceptable levels of bias and conclude that diagnostic AI tools should only be employed as an assistive technology within the dysmorphology clinic

An investigation of the factors effecting high-risk individuals' decision-making about prophylactic total gastrectomy and surveillance for hereditary diffuse gastric cancer (HDGC).

Hereditary diffuse gastric cancer has an early onset and poor prognosis, therefore, individuals who carry a pathogenic (CDH1) mutation in the E-cadherin gene (CDH1) are offered endoscopic surveillance and advised to undergo prophylactic total gastrectomy (PTG) in their early to mid-twenties. Patients not ready or fit to undergo gastrectomy, or in whom the genetic testing result is unknown or ambiguous, are offered surveillance. Little is known about the factors that influence decisions to undergo or decline PTG, making it difficult to provide optimal support for those facing these decisions. Qualitative interviews were carried out with 35 high-risk individuals from the Familial Gastric Cancer Study in the UK. Twenty-seven had previously undergone PTG and eight had been identified as carrying a pathogenic CDH1 mutation but had declined surgery at the time of interview. The interviews explored the experience of decision-making and factors influencing risk-management decisions. The data suggest that decisions to proceed with PTG are influenced by a number of potentially competing factors: objective risk confirmation by genetic testing and/or receiving a positive biopsy; perceived familial cancer burden and associated risk perceptions; perceptions of post-surgical life; an increasing inability to tolerate endoscopic procedures; a concern that surveillance could miss a cancer developing and individual's life stage. These findings have implications for advising this patient group.CRUKThis is the author accepted manuscript. The final version is available from Springer via http://dx.doi.org/10.1007/s10689-016-9910-8

Perspectives on Communicating Biomarker-Based Assessments of Alzheimer's Disease to Cognitively Healthy Individuals.

In clinical trials which target pathophysiological mechanisms associated with Alzheimer's disease, research participants who are recruited based on biomarker test results should be informed about their increased risk of developing Alzheimer's dementia. This paper presents the results of a qualitative focus group study of attitudes and concerns toward learning information about biomarker-based risk status among healthy research participants in the United Kingdom and Spain and people with dementia and their supporters/caregivers from countries represented in the European Working Group of People with Dementia of Alzheimer Europe. The study identified expectations related to learning risk status and preferences related to the content, quality, and follow-up of the disclosure process. The latter emphasize distinctions between risk and diagnoses, the importance of clear information about risk, and suggestions for risk reduction, as well as expectations for follow up and support. The implications of these preferences for practice are discussed. Providing details of research participants' experience and views may serve as a guide for the development of processes for the responsible disclosure of Alzheimer's disease biomarkers

Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.

Since 72% of rare diseases are genetic in origin and mostly paediatrics, genetic newborn screening represents a diagnostic "window of opportunity". Therefore, many gNBS initiatives started in different European countries. Screen4Care is a research project, which resulted of a joint effort between the European Union Commission and the European Federation of Pharmaceutical Industries and Associations. It focuses on genetic newborn screening and artificial intelligence-based tools which will be applied to a large European population of about 25.000 infants. The neonatal screening strategy will be based on targeted sequencing, while whole genome sequencing will be offered to all enrolled infants who may show early symptoms but have resulted negative at the targeted sequencing-based newborn screening. We will leverage artificial intelligence-based algorithms to identify patients using Electronic Health Records (EHR) and to build a repository "symptom checkers" for patients and healthcare providers. S4C will design an equitable, ethical, and sustainable framework for genetic newborn screening and new digital tools, corroborated by a large workout where legal, ethical, and social complexities will be addressed with the intent of making the framework highly and flexibly translatable into the diverse European health systems

Eating to live or living to eat:the meaning of hunger following gastric surgery

This paper is based upon interviews with twenty-seven women and men who have an inherited risk of developing gastric cancer and have had their stomach removed as a preventative measure. We describe what happens when bodily processes – digestion - are disrupted by the removal of the stomach. Interviewees' who had undergone prophylactic total gastrectomy experienced changes to the lived experience of hunger and appetite. The interviewees' accounts of life post-surgery suggested that private sensations of hunger (i.e. internalised feelings of hunger) disappeared following gastrectomy and in most cases never reappeared. The majority of interviewees described an alternative sense of hunger as developing over time. This externalised or disembodied hunger was described as triggered by a range of extracorporeal or external bodily criteria rather than internal sensations. We argue that this externally motivated desire for food, generated from without rather than within, serves the same purpose as internally generated feelings of hunger - it encourages eating, which sustains the body. Interviewees reported not only having to learn when to consume food following PTG, but also what to eat by adapting to what they perceived as their body's food tolerances and changing tastes. We argue that these changes in the lived experience of hunger and appetite may affect individuals' ability to participate in commensal relationships following gastrectomy, and that this may have negative consequences for identity

“I don’t think people are ready to trust these algorithms at face value”: trust and the use of machine learning algorithms in the diagnosis of rare disease

Background: As the use of AI becomes more pervasive, and computerised systems are used in clinical decision-making, the role of trust in, and the trustworthiness of, AI tools will need to be addressed. Using the case of computational phenotyping to support the diagnosis of rare disease in dysmorphology, this paper explores under what conditions we could place trust in medical AI tools, which employ machine learning. Methods: Semi-structured qualitative interviews (n = 20) with stakeholders (clinical geneticists, data scientists, bioinformaticians, industry and patient support group spokespersons) who design and/or work with computational phenotyping (CP) systems. The method of constant comparison was used to analyse the interview data. Results: Interviewees emphasized the importance of establishing trust in the use of CP technology in identifying rare diseases. Trust was formulated in two interrelated ways in these data. First, interviewees talked about the importance of using CP tools within the context of a trust relationship; arguing that patients will need to trust clinicians who use AI tools and that clinicians will need to trust AI developers, if they are to adopt this technology. Second, they described a need to establish trust in the technology itself, or in the knowledge it provides—epistemic trust. Interviewees suggested CP tools used for the diagnosis of rare diseases might be perceived as more trustworthy if the user is able to vouchsafe for the technology’s reliability and accuracy and the person using/developing them is trusted. Conclusion: This study suggests we need to take deliberate and meticulous steps to design reliable or confidence-worthy AI systems for use in healthcare. In addition, we need to devise reliable or confidence-worthy processes that would give rise to reliable systems; these could take the form of RCTs and/or systems of accountability transparency and responsibility that would signify the epistemic trustworthiness of these tools. words 294

Association between clinician factors and a patient's wish to hasten death: terminally ill cancer patients and their doctors

This study investigated the clinical factors associated with a wish to hasten death among patients with advanced cancer receiving palliative care, with a focus on the role of clinician-related factors. Patients were grouped into high- and low-scoring groups on the basis of their wish to hasten death; doctor-patient pairs were formed. Questionnaire data collected from patients and their treating doctors were subjected to multivariate analysis. Significant predictors of a high wish to hasten death in terminally ill patients from among treating clinicians included the clinician's perception of the patient's lower optimism and greater emotional suffering, the patient indicating a wish to hasten death, the doctor willing to assist the patient in hastening death (if requested and legal), and the doctor reporting less training in psychotherapy. When these variables were combined with patient factors identified in a previous study, the model significantly predicted a wish to hasten death with the following variables—patient factors: a higher perceived burden on others, higher depressive symptom scores, and lower family cohesion; physician factors: the doctor willing to assist the patient in hastening death (if requested and legal), the doctor's perception of lower levels of optimism and greater emotional distress in the patient, and the doctor having less training in psychotherapy; and the setting of care: recent admission to a hospice. The findings support the multifactorial influences on the wish to hasten death and suggest that the role of the clinician is a vital context within which the wish to hasten death should be considered

Terminally ill cancer patients' wish to hasten death

This exploratory study investigated factors associated with the wish to hasten death among a sample of terminally ill cancer patients. Semi-structured interviews conducted on a total of 72 hospice and home palliative care patients were subjected to qualitative analysis using QSRNUDIST. The main themes to emerge suggested that patients with a high wish to hasten death had greater concerns with physical symptoms and psychologica l suffering, perceived themselves to be more of a burden to others, and experienced higher levels of demoralization, while also reporting less confidence in symptom control, fewer social supports, less satisfaction with life experiences and fewer religious beliefs when compared with patients who had a moderate or no wish to hasten death. The implications of these findings will be discussed