Diagnosis and the practices of patienthood: How diagnostic journeys shape illness experiences.

Sociologists have a rich history of studying the process of diagnosis and how people experience illness. Yet, the sociology of diagnosis and illness experience literatures have seldom been fully integrated. Instead, these literatures highlight one element of the illness journey, wherein scholars either primarily study diagnostic processes and categories or people's illness experiences. Drawing on empirical studies that examine diagnosis and experiences of illness in varied settings (diagnosis during breast cancer surveillance, diagnosis and experience of autoimmune illness and incarcerated women's experiences of diagnoses and illness), in this article we build on our concept of regimes of patienthood to explain how diagnostic journeys, and the relations and power dynamics that manifest during this time, shape the illness experience and practices of patienthood. We construct a classification of diagnostic processes grounded in our empirical research that span (1) sudden diagnoses, (2) long, changing diagnostic journeys and (3) diagnostic journeys marked by disbelief and denial of care. Our findings demonstrate how diagnostic journeys and illness experiences are intertwined, with different diagnostic pathways impacting how illness is experienced. Analysing these categories collectively demonstrates that diagnostic journeys, while heterogenous, shape the practices that patients develop to manage health conditions and navigate unequal health-care encounters.

Interrogating the Value of Return of Results for Diverse Populations: Perspectives from Precision Medicine Researchers.

BACKGROUND: Over the last decade, the return of results (ROR) in precision medicine research (PMR) has become increasingly routine. Calls for individual rights to research results have extended the "duty to report" from clinically useful genetic information to traits and ancestry results. ROR has thus been reframed as inherently beneficial to research participants, without a needed focus on who benefits and how. This paper addresses this gap, particularly in the context of PMR aimed at increasing participant diversity, by providing investigator and researcher perspectives on and questions about the assumed value of ROR in PMR. METHODS: Semi-structured interviews with a purposive sample of investigators and researchers across federally funded PMR studies in three national consortia, as well as observations of study activities, focused on how PM researchers conceptualize diversity and implement inclusive practices across research stages, including navigating ROR. RESULTS: Interviewees (1) validated the value of ROR as a benefit of PMR, while others (2) questioned the benefit of clinically actionable results to individuals in the absence of sufficient resources for translating findings into health care for diverse and disadvantaged populations; (3) expressed uncertainties in applying the presumed value of ROR as a benefit for non-clinical results; and (4) and debated when the promise of the value of ROR may undermine trust in PMR, and divert efforts to return value beyond ROR. CONCLUSIONS: Conceptualizations of diversity and inclusion among PM researchers and investigators raise unique ethical questions where unexamined assumptions of the value of ROR inform study recruitment efforts to enroll minoritized and under-represented populations. A lack of consideration for resources and infrastructure necessary to translate ROR into actionable information may hinder trustworthy community-research relationships. Thus, we argue for a more intentional interrogation of ROR practices as an offer of benefit and for whom.

Rethinking Benefit and Responsibility in the Context of Diversity: Perspectives from the Front Lines of Precision Medicine Research.

INTRODUCTION: Federal agencies have instituted guidelines to prioritize the enrollment and retention of diverse participants in precision medicine research (PMR). Prior studies examining participation of minoritized communities have shown that potential benefits represent a key determinant. Human subject research guidance, however, conceptualizes potential benefits narrowly, emphasizing generalized advances in medical knowledge. Further, few studies have provided qualitative data that critically examine how the concept of "benefit" is interpreted or challenged in the context of research practice. This paper examines the experiences of PMR investigators and frontline research staff to understand how standard approaches to benefit are received, contested, and negotiated "on the ground." METHODS: Findings are drawn from a qualitative project conducted across five US-based, federally funded PMR studies. Data collection included 125 in-depth interviews with a purposive sample of investigators, research staff, community advisory board members, and NIH program officers associated with these PMR studies. RESULTS: Researchers report that the standard approach to benefit - which relies on the premise of altruism and the promise of incrementally advancing scientific knowledge - is frequently contested. Researchers experience moral distress over the unmet clinical, psychosocial, and material needs within the communities they are engaging. Many believe the broader research enterprise has a responsibility to better address these needs. CONCLUSION: Researchers frequently take issue with and sometimes negotiate what is owed to participants and to their communities in exchange for the data they provide. These experiences of moral distress and these improvisations warrant systematic redress, not by individual researchers but by the broader research ethics infrastructure.

Community Engagement in Precision Medicine Research: Organizational Practices and Their Impacts for Equity.

BACKGROUND: In the wake of mandates for biomedical research to increase participation by members of historically underrepresented populations, community engagement (CE) has emerged as a key intervention to help achieve this goal. METHODS: Using interviews, observations, and document analysis, we examine how stakeholders in precision medicine research understand and seek to put into practice ideas about who to engage, how engagement should be conducted, and what engagement is for. RESULTS: We find that ad hoc, opportunistic, and instrumental approaches to CE exacted significant consequences for the time and resources devoted to engagement and the ultimate impacts it has on research. Critical differences emerged when engagement and research decisionmaking were integrated with each other versus occurring in parallel, separate parts of the study organization, and whether community members had the ability to determine which issues would be brought to them for consideration or to revise or even veto proposals made upstream based on criteria that mattered to them. CE was understood to have a range of purposes, from instrumentally facilitating recruitment and data collection, to advancing community priorities and concerns, to furthering long-term investments in relationships with and changes in communities. These choices about who to engage, what engagement activities to support, how to solicit and integrate community input into the workflow of the study, and what CE was for were often conditioned upon preexisting perceptions and upstream decisions about study goals, competing priorities, and resource availability. CONCLUSIONS: Upstream choices about CE and constraints of time and resources cascade into tradeoffs that often culminated in "pantomime community engagement." This approach can create downstream costs when engagement is experienced as improvised and sporadic. Transformations are needed for CE to be seen as a necessary scientific investment and part of the scientific process.

Targeting Representation: Interpreting Calls for Diversity in Precision Medicine Research.

Scientists have identified a "diversity gap" in genetic samples and health data, which have been drawn predominantly from individuals of European ancestry, as posing an existential threat to the promise of precision medicine. Inadequate inclusion as articulated by scientists, policymakers, and ethicists has prompted large-scale initiatives aimed at recruiting populations historically underrepresented in biomedical research. Despite explicit calls to increase diversity, the meaning of diversity - which dimensions matter for what outcomes and why - remain strikingly imprecise. Drawing on our document review and qualitative data from observations and interviews of funders and research teams involved in five precision medicine research (PMR) projects, we note that calls for increasing diversity often focus on "representation" as the goal of recruitment. The language of representation is used flexibly to refer to two objectives: achieving sufficient genetic variation across populations and including historically disenfranchised groups in research. We argue that these dual understandings of representation are more than rhetorical slippage, but rather allow for the contemporary collection of samples and data from marginalized populations to stand in as correcting historical exclusion of social groups towards addressing health inequity. We trace the unresolved historical debates over how and to what extent researchers should procure diversity in PMR and how they contributed to ongoing uncertainty about what axes of diversity matter and why. We argue that ambiguity in the meaning of representation at the outset of a study contributes to a lack of clear conceptualization of diversity downstream throughout subsequent phases of the study.

Strategies of inclusion: The tradeoffs of pursuing "baked in" diversity through place-based recruitment.

US funding agencies have begun to institutionalize expectations that biomedical studies achieve defined thresholds for diversity among research participants, including in precision medicine research (PMR). In this paper, we examine how practices of recruitment have unfolded in the wake of these diversity mandates. We find that a very common approach to seeking diverse participants leverages understandings of spatial, geographic, and site diversity as proxies and access points for participant diversity. That is, PMR investigators recruit from a diverse sampling of geographic areas, neighborhoods, sites, and institutional settings as both opportunistic but also meaningful ways to "bake in" participant diversity. In this way, logics of geographic and institutional diversity shift the question from who to recruit, to where. However, despite seeing geographic and site diversity as social and scientific 'goods' in the abstract and as key to getting diverse participants, PMR teams told us that working with diverse sites was often difficult in practice due to constraints in funding, time, and personnel, and inadequate research infrastructures and capacity. Thus, the ways in which these geographic and institutional diversity strategies were implemented resulted ultimately in limiting the meaningful inclusion of populations and organizations that had not previously participated in biomedical research and reproduced the inclusion of institutions that are already represented. These prevailing assumptions about and practices of "baked-in" diversity in fact exacerbate and produce other forms of inequity, in research capacity and research representation. These findings underscore how structural inequities in research resources must be addressed for diversity to be achieved in both research sites and research participants.

Beyond inclusion: Enacting team equity in precision medicine research.

PURPOSE: To identify meanings of and challenges to enacting equitable diversification of genomics research, and specifically precision medicine research (PMR), teams. METHODS: We conducted in-depth interviews with 102 individuals involved in three U.S.-based precision medicine research consortia and conducted over 400 observation hours of their working group meetings, consortium-wide meetings, and conference presentations. We also reviewed published reports on genomic workforce diversity (WFD), particularly those relevant to the PMR community. RESULTS: Our study finds that many PMR teams encounter challenges as they strive to achieve equitable diversification on scientific teams. Interviewees articulated that underrepresented team members were often hired to increase the study's capacity to recruit diverse research participants, but are limited to on-the-ground staff positions with little influence over study design. We find existing hierarchies and power structures in the academic research ecosystem compound challenges for equitable diversification. CONCLUSION: Our results suggest that meaningful diversification of PMR teams will only be possible when team equity is prioritized as a core value in academic research communities.

Using autoimmune strategically: Diagnostic lumping, splitting, and the experience of illness.

Experience of illness and sociology of diagnosis literatures offer valuable insights into how people live with chronic illness. In this article, we argue that investigating autoimmune illnesses contributes to the sociological understanding of illness experiences and diagnosis practices. Autoimmune is a broad category of illnesses in which a person's immune system identifies healthy cells as pathological. Drawing on 45 in-depth interviews with people who live with autoimmune illnesses, this article shows how both broad diagnostic classifications (lumping) and narrow diagnostic classifications (splitting) are integral to diagnostic work and illness experiences. Combining the illness experience and sociology of diagnosis literatures, we theorize diagnosis as an iterative process in which people strategically use broad illness categories such as autoimmune in combination with specific illness categories such as multiple sclerosis a way to negotiate heterogeneity and uncertainty and to make sense of what is happening in their bodies. In this article, we argue that in an era of specialization, broad diagnostic categories can help both patients and clinicians navigate the experience of illness.

Implementing Pediatric Asthma Pathways in Community Hospitals: A National Qualitative Study.

BACKGROUND: Pathways can improve the quality of care and outcomes for children with asthma; however, we know little about how to successfully implement pathways across diverse hospital settings. Prior studies of pathways have focused on determining clinical effectiveness and the majority were conducted in children's hospitals. These approaches have left crucial gaps in our understanding of how to successfully implement pathways in community hospitals, where most of the children with asthma are treated nationally. OBJECTIVE: The aim of this study was to identify the key determinants of successful pediatric asthma pathway implementation in community hospitals. METHODS: We conducted a qualitative study of healthcare providers that served as project leaders in a national collaborative to improve pediatric asthma care. Data were collected by recording semi-structured discussions between project leaders and external facilitators (EF) from December 2017 to April 2018. Using inductive thematic analysis, we identified the themes that describe the key determinants of pathway implementation. RESULTS: Project leaders (n = 32) from 18 hospitals participated in this study. The key determinants of pathway implementation in community hospitals included (1) building an implementation infrastructure (eg, forming a team of local champions, modifying clinical workflows, delivering education/skills training), (2) engaging and motivating providers (eg, obtaining project buy-in, facilitating multidisciplinary collaboration, handling conflict), (3) addressing organizational and resource limitations (eg, support for electronic medical record integration), and (4) devising implementation solutions with EFs (eg, potential workflow modifications). CONCLUSIONS: Our identification of the key determinants of pathway implementation may help guide pediatric quality improvement efforts in community hospitals. EFs may play an important role in successfully implementing pathways in community settings.

Use of technology for delivery of mental health and substance use services to youth living with HIV: a mixed-methods perspective.

Disparities in HIV treatment outcomes among youth living with HIV (YLWH) present a challenge for ending the HIV epidemic. Antiretroviral therapy (ART) adherence can be impacted by comorbidities such as mental health and substance use. Technology use has shown promise in increasing access to mental health and substance use services. Using a mixed-methods approach, we conducted formative research to describe the relationship between mental health, substance use, and medication adherence in 18-29 year-old YLWH, and explored technology use as an approach to supporting these services. Among 101 YLWH, ART adherence was significantly negatively associated with mental health measures such as depression, trauma, and adverse childhood experiences and marijuana and stimulants use. Depression had the highest level of relative importance in its association with ART adherence. During in-depth interviews with 29 participants, barriers to and facilitators of accessing and maintaining mental health services were identified. Most participants favored technology use for mental health and substance use service delivery, including videoconferencing with a counselor. Provision of ongoing mental health and substance use treatment is an important mechanism to achieving HIV treatment engagement. Technology, particularly videoconferencing, may have the capacity to overcome many barriers to care by increasing accessibility of these services.