A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings.

Exome-based testing for genetic diseases can reveal unsolicited findings (UFs), i.e. predispositions for diseases that exceed the diagnostic question. Knowledge of patients' interpretation of possible UFs and of motives for (not) wanting to know UFs is still limited. This lacking knowledge may impede effective counselling that meets patients' needs. Therefore, this article examines the meaning of UFs from a patient perspective. A qualitative study was conducted and an interpretative phenomenological analysis was made of 14 interviews with patients with an inherited retinal disease. Patients assign a complex meaning to UFs, including three main components. The first component focuses on result-specific qualities, i.e. the characteristics of an UF (inclusive of actionability, penetrance, severity and age of onset) and the consequences of disclosure; the second component applies to a patient's lived illness experiences and to the way these contrast with reflections on presymptomatic UFs; the third component addresses a patient's family embedding and its effect on concerns about disease prognosis and genetic information's family relevance. The complex meaning structure of UFs suggests the need for counselling procedures that transcend a strictly clinical approach. Counselling should be personalised and consider patients' lived illness experiences and family context.

Patients' moral attitudes toward electronic health records: Survey study with vignettes and statements.

Patient access to electronic health records gives rise to ethical questions related to the patient-doctor-computer relationship. Our study aims to examine patients' moral attitudes toward a shared EHR, with a focus on autonomy, information access, and responsibility. A de novo self-administered questionnaire containing three vignettes and 15 statements was distributed among patients in four different settings. A total of 1688 valid questionnaires were collected. Patients' mean age was 51 years, 61% was female, 50% had a higher degree (college or university), and almost 50% suffered from a chronic illness. Respondents were hesitant to hide sensitive information electronically from their care providers. They also strongly believed hiding information could negatively affect the quality of care provided. Participants preferred to be informed about negative test results in a face-to-face conversation, or would have every patient decide individually how they want to receive results. Patients generally had little experience using patient portal systems and expressed a need for more information on EHRs in this survey. They tended to be hesitant to take up control over their medical data in the EHR and deemed patients share a responsibility for the accuracy of information in their record.

Vulnerable patients' attitudes towards sharing medical data and granular control in patient portal systems: an interview study.

BACKGROUND: The collection, storage and exchange of medical information are becoming increasingly complex. More parties are involved in this process, and the data are expected to serve many different purposes beside patient care. This raises several ethical questions regarding privacy, data ownership, security and confidentiality. It is vital to consider patients' moral attitudes and preferences in this digital information exchange. The voice of vulnerable patients is rarely heard in research addressing these questions. This study aims to address this void. METHOD: Fourteen vulnerable patients without prior experience with patient portal systems were interviewed for this study. First, participants were introduced to the portal and given time to read their personal medical data. Afterwards, semi-structured interviews were conducted and analysed thematically to explore participants' first experience with the portal and their views on sharing medical information with care providers and other parties. RESULTS: Data analysis resulted in four themes: barriers to and benefits of portal access, emotional responses to reading medical information, diverging views on sharing information with third parties and balancing granular control and the best possible care. First, participants appreciated access to their health information in the portal despite experiencing obstacles. Second, reading medical information online could evoke emotional responses. Third, patients were generally unaware of the meaning and value of medical data to third parties, resulting in inconsistent views on data sharing. Finally, although patients generally supported granular control, they were willing to give up on their autonomy if that would ensure them to receive the best possible care. CONCLUSIONS: Patient portal design should take into consideration the obstacles that discourage vulnerable patients' access and hamper meaningful use. There is a need for more transparency on secondary use of medical data by third parties. Patients should be better informed about the potential consequences of sharing data with them.

Ethical values supporting the disclosure of incidental and secondary findings in clinical genomic testing: a qualitative study.

BACKGROUND: Incidental findings (IFs) and secondary findings (SFs), being results that are unrelated to the diagnostic question, are the subject of an important debate in the practice of clinical genomic medicine. Arguments for reporting these results or not doing so typically relate to the principles of autonomy, non-maleficence and beneficence. However, these principles frequently conflict and are insufficient by themselves to come to a conclusion. This study investigates empirically how ethical principles are considered when actually reporting IFs or SFs and how value conflicts are weighed. METHODS: A qualitative focus group study has been undertaken, including a multidisciplinary group of professionals from Belgian centres for medical genetics. The data were analysed thematically. RESULTS: All eight Belgian centres participated in this study. Ethical values were frequently referred to for disclosure policies on IFs and SFs. Participants invoked respect for patient autonomy to support the disclosure of IFs and opt-out options for IFs and SFs, non-maleficence for the professional delineation of reportable IFs and opt-out options for IFs and SFs and (the particular scope of) beneficence for the mandatory reporting of actionable IFs, the delineation of reportable IFs and a current decline of actively pursued SFs. Professional assumptions about patients' genetic literacy were an important factor in the weighing of values. CONCLUSIONS: In line with the traditional bioethical discourse, the mandatory reporting of actionable IFs might be interpreted as a "technological, soft paternalism". Restricting patients' choices might be acceptable, but then its motives should be valid and its beneficent outcomes highly plausible. Hence, the presuppositions of technological, soft paternalism - patients' inability to make informed decisions, normative rationality, the efficacy of beneficent outcomes and the delineated spectrum of beneficence - should be approached critically. Moreover, distributive justice should be considered an important value in the delineation of the current scope of the ethical debate on IFs and SFs. This study of guiding values may stimulate the debate on the ethical grounds for a solid policy on IFs and SFs internationally.

Primary Care Physicians' Perspectives on the Ethical Impact of the Electronic Medical Record.

OBJECTIVE: The aim of this study is to explore whether specific ethical questions arise with the use of a shared electronic health record (EHR) system, based on the daily experience of primary care physicians (PCPs). METHODS: In this qualitative research project, we conducted 14 in-depth semistructured interviews with PCPs in a tertiary hospital setting. RESULTS: We identified 4 themes: 1) PCPs describe the EHR as a medicine with side effects, for which they provide suggestions for improvements; 2) A shared record raises ethical questions related to autonomy and trust; 3) Although use of the EHR often disturbs rapport with the patient, it can also support the patient-doctor interaction when it becomes an active part of the conversation; 4) A shared EHR may cause health care providers (and their relatives) to avoid seeking help for sensitive issues. DISCUSSION: PCPs fear access to results could cause confusion and anxiety in patients, resulting in tensions between autonomy and beneficence. Improved efficiency and quality of care with a shared EHR relies on doctors trusting each other's input to avoid duplicate tests. However, this might compromise a fundamental skeptical attitude in practicing medicine, and we should be aware of a risk of increased confirmation and anchoring bias. CONCLUSION: The EHR is considered to be a work in progress-EHR design could be improved by examining physicians' coping strategies and implementing their suggestions for improvement. Ethical questions related to autonomy, trust, and the status of records that belong to doctor-patients need to be considered in future research and EHR development.

The elephant in the room: a postphenomenological view on the electronic health record and its impact on the clinical encounter.

Use of electronic health records (EHR) within clinical encounters is increasingly pervasive. The digital record allows for data storage and sharing to facilitate patient care, billing, research, patient communication and quality-of-care improvement-all at once. However, this multifunctionality is also one of the main reasons care providers struggle with the EHR. These problems have often been described but are rarely approached from a philosophical point of view. We argue that a postphenomenological case study of the EHR could lead to more in-depth insights. We will focus on two concepts-transparency and multistability-and translate them to the specific situation of the EHR. Transparency is closely related to an embodiment relation in which the user becomes less aware of the technology: it fades into the background, becoming a means of experience. A second key concept is that of multistability, referring to how a technology can serve multiple purposes or can have different meanings in different contexts. The EHR in this sense is multistable by design. Future EHR design could incorporate multistable information differently, allowing the provider to focus on patient care when interacting with the EHR. Moreover we argue that the use of the EHR in the daily workflow should become more transparent, while awareness of the computer in the specific context of the patient-provider relationship should increase.

Criteria for reporting incidental findings in clinical exome sequencing - a focus group study on professional practices and perspectives in Belgian genetic centres.

BACKGROUND: Incidental and secondary findings (IFs and SFs) are subject to ongoing discussion as potential consequences of clinical exome sequencing (ES). International policy documents vary on the reporting of these findings. Discussion points include the practice of unintentionally identified IFs versus deliberately pursued SFs, patient opt-out possibilities and the spectrum of reportable findings. The heterogeneity of advice permits a non-standardised disclosure but research is lacking on actual reporting practices. Therefore, this study assessed national reporting practices for IFs and SFs in clinical ES and the underlying professional perspectives. METHODS: A qualitative focus group study has been undertaken, including professionals from Belgian centres for medical genetics (CMGs). Data were analysed thematically. RESULTS: All Belgian CMGs participated in this study. Data analysis resulted in six main themes, including one regarding the reporting criteria used for IFs. All CMGs currently use ES-based panel testing. They have limited experience with IFs in clinical ES and are cautious about the pursuit of SFs. Two main reporting criteria for IFs were referred to by all CMGs: the clinical significance of the IF (including pathogenicity and medical actionability) and patient-related factors (including the patient's preference to know and patient characteristics). The consensus over the importance of these criteria contrasted with their challenging interpretation and application. Points of concern included IFs' pathogenicity in non-symptomatic persons, IFs concerning variants of uncertain significance, the requirement and definition of medical actionability and patient opt-out possibilities. Finally, reporting decisions were guided by the interaction between the clinical significance of the IF and patient characteristics. This interaction questions the possible disclosure of findings with context-dependent and personal utility, such as IFs concerning a carrier status. To evaluate the IF's final relevance, a professional and case-by-case deliberation was considered essential. CONCLUSIONS: The challenging application of reporting criteria for IFs results in diversified practices and policy perspectives within Belgian CMGs. This echoes international concerns and may have consequences for effective policy recommendations.

Exploring Entertainment Medicine and Professionalization of Self-Care: Interview Study Among Doctors on the Potential Effects of Digital Self-Tracking.

BACKGROUND: Nowadays, digital self-tracking devices offer a plethora of possibilities to both healthy and chronically ill users who want to closely examine their body. This study suggests that self-tracking in a private setting will lead to shifting understandings in professional care. To provide more insight into these shifts, this paper seeks to lay bare the promises and challenges of self-tracking while staying close to the everyday professional experience of the physician. OBJECTIVE: The aim of this study was to (1) offer an analysis of how medical doctors evaluate self-tracking methods in their practice and (2) explore the anticipated shifts that digital self-care will bring about in relation to our findings and those of other studies. METHODS: A total of 12 in-depth semistructured interviews with general practitioners (GPs) and cardiologists were conducted in Flanders, Belgium, from November 2015 to November 2016. Thematic analysis was applied to examine the transcripts in an iterative process. RESULTS: Four major themes arose in our body of data: (1) the patient as health manager, (2) health obsession and medicalization, (3) information management, and (4) shifting roles of the doctors and impact on the health care organization. Our research findings show a nuanced understanding of the potentials and pitfalls of different forms of self-tracking. The necessity of contextualization of self-tracking data and a professionalization of self-care through digital devices come to the fore as important overarching concepts. CONCLUSIONS: This interview study with Belgian doctors examines the potentials and challenges of self-monitoring while focusing on the everyday professional experience of the physician. The dialogue between our dataset and the existing literature affords a fine-grained image of digital self-care and its current meaning in a medical-professional landscape.

E-health beyond technology: analyzing the paradigm shift that lies beneath.

Information and computer technology has come to play an increasingly important role in medicine, to the extent that e-health has been described as a disruptive innovation or revolution in healthcare. The attention is very much focused on the technology itself, and advances that have been made in genetics and biology. This leads to the question: What is changing in medicine today concerning e-health? To what degree could these changes be characterized as a 'revolution'? We will apply the work of Thomas Kuhn, Larry Laudan, Michel Foucault and other philosophers-which offers an alternative understanding of progress and revolution in medicine to the classic discovery-oriented approach-to our analysis. Nowadays, the long-standing curative or reactive paradigm in medicine is facing a crisis due to an aging population, a significant increase in chronic diseases and the development of more expensive diagnostic tools and therapies. This promotes the evolution towards a new paradigm with an emphasis on preventive medicine. E-health constitutes an essential part of this new paradigm that seeks to solve the challenges presented by an aging population, skyrocketing costs and so forth. Our approach changes the focus from the technology itself toward the underlying paradigm shift in medicine. We will discuss the relevance of this approach by applying it to the surge in digital self-tracking through health apps and wearables: the recognition of the underlying paradigm shift leads to a more comprehensive understanding of self-tracking than a solely discovery-oriented or technology-focused view can provide.

Patient health information materials in waiting rooms of family physicians: do patients care?

BACKGROUND: Patient health information materials (PHIMs), such as leaflets and posters are widely used by family physicians to reinforce or illustrate information, and to remind people of information received previously. This facilitates improved health-related knowledge and self-management by patients. OBJECTIVE: This study assesses the use of PHIMs by patient. It also addresses their perception of the quality and the impact of PHIMs on the interaction with their physician, along with changes in health-related knowledge and self-management. METHODS: QUESTIONNAIRE SURVEY AMONG PATIENTS OF FAMILY PRACTICES OF ONE TOWN IN BELGIUM, ASSESSING: (1) the extent to which patients read PHIMs in waiting rooms (leaflets and posters) and take them home, (2) the patients' perception of the impact of PHIMs on interaction with their physician, their change in health-related knowledge and self-management, and (3) the patients judgment of the quality of PHIMs. RESULTS: We included 903 questionnaires taken from ten practices. Ninety-four percent of respondents stated they read PHIMs (leaflets), 45% took the leaflets home, and 78% indicated they understood the content of the leaflets. Nineteen percent of respondents reportedly discussed the content of the leaflets with their physician and 26% indicated that leaflets allowed them to ask fewer questions of their physician. Thirty-four percent indicated that leaflets had previously helped them to improve their health-related knowledge and self-management. Forty-two percent reportedly discussed the content of the leaflets with others. Patient characteristics are of significant influence on the perceived impact of PHIMS in physician interaction, health-related knowledge, and self-management. CONCLUSION: This study suggests that patients value health information materials in the waiting rooms of family physicians and that they perceive such materials as being helpful in improving patient-physician interaction, health-related knowledge, and self-management.

Follow-up of a cardiovascular prevention campaign.

The aim of this study was to evaluate the cardiovascular risk (CVR) factors and morbidity in a sample of the population that received a brief intervention on cardiovascular prevention seven years ago. All family physicians who participated in the Cardiovascular Prevention Campaign in five Belgian towns in 2002-2003 received a follow-up questionnaire for each participating patient. The questionnaire included questions about new cardiovascular diagnoses, parameters of the latest physical examination and blood tests. Analyses were based on the 318 questionnaires that included essential information such as the date of the latest contact and the new diagnosis or mortality. The proportion of patients with a low CVR decreased from 75% in 2002-2003 to 40% in 2010. Participants showed a significant increase of the abdominal circumference, triglycerides and fasting glycaemia. Only LDL-cholesterol levels decreased significantly (p = 0.002). Four percent of the patients died, more male (7 ) than female (2%) (p = 0.03). One in ten patients presented with a cardiovascular event. Most of the changes are probably attributable to age. It is clear that the long-term effect of a brief intervention only followed by usual care is not sufficient to attain optimal level of cardiovascular prevention.