Anne Townsend

Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing.

Whole exome or whole genome analysis using massively parallel sequencing technologies will undoubtedly solve diagnostic dilemmas; however, incidental findings (IF) that may have medical and social implications will also be discovered. While there is consensus in the literature that analytically valid and medically actionable IF should be returned to patients if requested, there is debate regarding the return of other IF. There are currently no guidelines established for managing IF in the clinical context. We therefore distributed an online questionnaire to 496 geneticists and genetic counselors in Canada to explore this unresolved issue, and 210 professionals participated (response rate = 42%). The proportion of respondents who indicated that they would return IF to patients depended on the nature of the finding, ranging from 95% for information pertaining to a serious and treatable condition to 12% for information with only social implications (e.g., non‐paternity). There was a lack of consensus around the disclosure of certain IF such as genetic carrier status, especially for pediatric patients. The most important considerations identified as impacting IF disclosure included condition‐specific factors such as treatment availability, test accuracy, and evidence indicating pathogenicity. This is the first study to document the views of geneticists and genetic counselors in Canada towards the disclosure of IF, and represents a step towards evidence‐based guidelines for clinical genome‐wide sequencing investigations.

Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard

Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard

Moral Agency as Enacted Justice: A Clinical and Ethical Decision-Making Framework for Responding to Health Inequities and Social Injustice

This is the second of 2 companion articles in this issue. The first article explored the clinical and ethical implications of new emphases in physical therapy codes of conduct reflecting the growing evidence regarding the importance of social determinants of health, epidemiological trends for health service delivery, and the enhanced participation of physical therapists in shaping health care reform in a number of international contexts. The first article was theoretically oriented and proposed that a re-thinking of ethical frameworks expressed in codes of ethics could both inform and underpin practical strategies for working in primary health care. A review of the ethical principle of “justice,” which, arguably, remains the least consensually understood and developed principle in the ethics literature of physical therapy, was provided, and a more recent perspective—the capability approach to justice—was discussed. The current article proposes a clinical and ethical decision-making framework, the ethical reasoning bridge (ER bridge), which can be used to assist physical therapy practitioners to: (1) understand and implement the capability approach to justice at a clinical level; (2) reflect on and evaluate both the fairness and influence of beliefs, perspectives, and context affecting health and disability through a process of “wide reflective equilibrium” and assist patients to do this as well; and (3) nurture the development of moral agency, in partnership with patients, through a transformative learning process manifest in a mutual “crossing” and “re-crossing” of the ER bridge. It is proposed that the development and exercise of moral agency represent an enacted justice that is the result of a shared reasoning and learning experience on the part of both therapists and patients.

Trust in Health Research Relationships: Accounts of Human Subjects:

Trust is fundamental in health research, yet there is little empirical evidence that explores the meaning of trust from the perspective of human subjects. The analysis presented here focuses on how human subjects talked about trust in the in-depth interviews. It emerged from the accounts that trust could not be assumed in the research setting, rather it was portrayed as a dynamic concept, built and easily broken, characterized by reciprocity and negotiation. Human subjects were ambivalent about who, when, what, and how much to trust in the research endeavor. This paper adds a fresh perspective to the literature on trust, and so offers a currently neglected, and little understood dimension to the discourse around health research ethics.

Frequent consulting and multiple morbidity: a qualitative comparison of 'high' and 'low' consulters of GPs.

Background. Frequent consulting is associated with multiple and complex social and health conditions. It is not known how the impact of multiple conditions, the ability to self-manage and patient perception of the GP consultation combines to influence consulting frequency. Objective. To investigate reasons for frequent consultation among people with multiple morbidity but contrasting consulting rates. Methods. Qualitative study with in-depth interviews in the west of Scotland. Participants were 23 men and women aged about 50 years with four or more chronic illnesses; 11 reported consulting seven or more times in the last year [the frequent consulters (FCs)] and 12, three or fewer times [the less frequent consulters (LFCs)]. The main outcome measures were the participants’ accounts of their symptoms, self-management strategies and reasons for consulting a GP. Results. All participants used multiple self-management strategies. FCs described: more disruptive symptoms, which were resistant to self-management strategies; less access to fewer treatments and resources and more medical monitoring, for unstable conditions and drug regimens. The LFCs reported: less severe and more containable symptoms; accessing more efficacious self-management strategies and infrequent GP monitoring for stable conditions and routine drug regimens. All participants conveyed consulting as a ‘last resort’. However, the GP was seen as ‘ally’, for the FCs, and as ‘innocent bystander’, for the LFCs. Conclusions. This qualitative investigation into the combined significance of multiple morbidities and self-management on the GP consultation suggests that current models of self-management might have limited potential to reduce utilization rates among this vulnerable group. Severity of symptoms, stability of condition and complexity of drug regimens combine to influence the availability of effective resources and influence frequency of GP consultations.

Qualitative Research Ethics: Enhancing Evidence-Based Practice in Physical Therapy

Background Increasing challenges to health care systems and the prominence of patient-centered care and evidence-based practice have fostered the application of qualitative approaches in health care settings, prompting discussions of associated ethical issues in a range of disciplines. Objectives The purposes of this work were to identify and describe the application and value of qualitative health research for physical therapy and to identify ethical considerations in a qualitative research study. Design This was a qualitative interview study with telephone follow-ups. Methods Forty-six participants were interviewed about their early experiences with rheumatoid arthritis. They also were asked what motivated them to volunteer for the study. To inform the discussion of ethics in qualitative health research, this study drew on the in-depth interviews, took a descriptive approach to the data, and applied the traditional ethical principles of autonomy, justice, and beneficence to the study process. Results Ethical issues emerged in this qualitative health research study that were both similar to and different from those that exist in a positivist paradigm (eg, clinical research). With flexibility and latitude, the traditional principle approach can be applied usefully to qualitative health research. Conclusions These findings build on previous research and discussion in physical therapy and other disciplines that urge a flexible approach to qualitative research ethics and recognize that ethics are embedded in an unfolding research process involving the role of the subjective researcher and an active participant. We suggest reflexivity as a way to recognize ethical moments throughout qualitative research and to help build methodological and ethical rigor in research relevant to physical therapist practice.

Applying Bourdieu’s theory to accounts of living with multimorbidity:

Objectives: Chronic illness is well researched. Broadly, empirical enquiry has focused on either determinants of behaviors or exploring lived experiences. This paper attempts to advance understandings of the lived experience of multimorbidity in broader cultural and structural settings. Methods: Twenty-three people in their early 50s were recruited from a community health survey in Scotland. The participants had 4 or more chronic illnesses and were interviewed twice. Key concepts of Bourdieu were applied to the data set Results: The analysis presented here is organized around 4 sections: 1) Habitus, capitals and the ill body; 2) Relational positioning; 3) Illness and symbolic violence; 4) The GP as dispenser of capitals. Applying Bourdieu’s theory to the accounts highlighted how broader cultural structures worked their way into personal illness narratives and illustrated how living with multimorbidity is a dialectic of structure and agency. Discussion: Interventions and support for those with multimorbidity need to take into account the tensions of opposing habitus underpinning medical encounters and the ongoing negotiation of structure and agency which is integral to living with chronic illness and underpins illness actions such as help-seeking and self-managing.

Everyday ethics and help-seeking in early rheumatoid arthritis

Background: Sociological understandings of chronic illness have revealed tensions and complexities around help-seeking. Although ethics underpins healthcare, its application in the area of chronic illness is limited. Here we apply an ethical framework to interview accounts and identify ethical challenges in the early rheumatoid arthritis (RA) experience. Methods: In-depth interviews were conducted with eight participants who had been diagnosed with RA in the 12 months prior to recruitment. Applying the concepts of autonomous decision-making and procedural justice highlighted ethical concerns which arose throughout the help-seeking process. Analysis was based on the constant-comparison approach. Results: Individuals described decision-making, illness actions and the medical encounter. The process was complicated by inadequate knowledge about symptoms, common-sense understandings about the GP appointment, difficulties concerning access to specialists, and patient—practitioner interactions. Autonomous decision-making and procedural justice were compromised. The accounts revealed contradictions between the policy ideals of active self-management, patient-centred care and shared decision-making, and the everyday experiences of individuals. Conclusions: For ethical healthcare there is a need for: public knowledge about early RA symptoms; more effective patient—practitioner communication; and increased support during the wait between primary and secondary care. Healthcare facilities and the government may consider different models to deliver services to people requiring rheumatology consults.

eHealth, Participatory Medicine, and Ethical Care: A Focus Group Study of Patients' and Health Care Providers' Use of Health-Related Internet Information.

Background The rapid explosion in online digital health resources is seen as transformational, accelerating the shift from traditionally passive patients to patients as partners and altering the patient–health care professional (HCP) relationship. Patients with chronic conditions are increasingly engaged, enabled, and empowered to be partners in their care and encouraged to take responsibility for managing their conditions with HCP support. Objective In this paper, we focus on patients’ and HCPs’ use of health-related Internet information and how it influences the patient-HCP relationship. In particular, we examine the challenges emerging in medical encounters as roles and relationships shift and apply a conceptual framework of relational ethics to examine explicit and nuanced ethical dimensions emerging in patient-HCP interactions as both parties make increased use of health-related Internet information. Methods We purposively sampled patients and HCPs in British Columbia, Canada, to participate in focus groups. To be eligible, patients self-reported a diagnosis of arthritis and at least one other chronic health condition; HCPs reported a caseload with >25% of patients with arthritis and multimorbidity. We used a semistructured, but flexible, discussion guide. All discussions were audiotaped and transcribed verbatim. Elements of grounded theory guided our constant comparison thematic analytic approach. Analysis was iterative. A relational ethics conceptual lens was applied to the data. Results We recruited 32 participants (18 patients, 14 HCPs). They attended seven focus groups: four with patients and three with rehabilitation professionals and physicians. Predominant themes to emerge were how use of health-related Internet information fostered (1) changing roles, (2) patient-HCP partnerships, and (3) tensions and burdens for patients and HCPs. Conclusions Relational aspects such as mutual trust, uncertainty, and vulnerability are illuminated in patient-HCP interactions around health-related Internet information and the negotiated space of clinical encounters. New roles and associated responsibilities have key ethical dimensions that make clear the changes are fundamental and important to understand in ethical care. When faced with tensions and burdens around incorporating health-related Internet information as a resource in clinical encounters, participants described a particular ambivalence illustrating the fundamental changes being negotiated by both patients and HCPs.

Proof-of-Concept Study of a Web-Based Methotrexate Decision Aid for Patients With Rheumatoid Arthritis

To assess the extent to which an online patient decision aid reduced decisional conflict and improved self‐management knowledge/skills in patients who were considering methotrexate for rheumatoid arthritis (RA).