Genomic uncertainty and genetic counsellors' professional authority.

Genomic tests regularly produce Variants of Uncertain Significance (VUS), mutations of which currently little is known but may turn out to be disease-causing. The communication of such variants in the United States is typically delegated to genetic counsellors. Based on in-depth interviews, we examined this communication as an indicator of the genetic counsellor's professional status: did they take a subordinate position by reporting out the results as provided by laboratories or did they assert professional authority by interpreting and possibly reducing the uncertainty of VUS results? We found that genetic counsellors put their professional spin on VUS results and they prepared patients for the full range of possible interpretations by normalising the existence of VUS results; intervened in the ecology of testing laboratories to stack the deck in favour of the expected results; and conducted their own research to reclassify a VUS. They marshalled organisational, technical, scientific and communication expertise to ease the sting of uncertainty but were ultimately limited by their role in the counselling encounter rather than in the basic research or laboratory community. We concluded that genetic counsellors use uncertainty to assert professional authority that interpreted genetic test results in light of the patient's symptoms and risk profile and uncertainty tolerance.

Challenges for precision public health communication in the era of genomic medicine.

Although still in the early stages of development, the advent of fast, high-output, and cost-effective next-generation DNA sequencing technology is moving precision medicine into public health. Before this shift toward next-generation sequencing in public health settings, individual patients met geneticists after showing symptoms and through limited family screening. In the new era of precision public health, everyone is a possible participant in genetic sequencing, simply by being born (newborn screening), by donating blood (biobanking), or through population screening. These initiatives are increasingly offered to individuals throughout their life and more individuals are encountering opportunities to use DNA sequencing. This article raises awareness of these growing areas and calls for different models of public engagement and communication about genomics, including screening asymptomatic populations, obtaining consent for unspecified and unforeseen future uses of genomic data, and managing variants of uncertain significance. Given that such communication challenges loom large, established norms of practice in genomic medicine and research should be reconsidered.

Views of Israeli healthcare professionals regarding communication of genetic variants of uncertain significance to patients.

While genomic medicine is becoming an important part of patient care with an ever-increasing diagnostic yield, communicating variants of uncertain clinical significance (VUSs) remains a major challenge. We draw on qualitative analysis of semi-structured interviews conducted in 2020 with 20 Israeli healthcare professionals and stakeholders involved in communicating the results of genome-wide sequencing to patients. Respondents described four main strategies of communicating VUSs to patients: preparing the patient pre-test for uncertainty; adapting the level of detail to the patient's needs; upgrading versus downgrading the VUS; and following up on the possible reclassification of VUSs. These strategies were expressed differently by physicians and genetic counselors, varying according to their specialty and perception of the patient's situation. We discuss the strategic management and communication of uncertain genomic test results with patients in the context of meeting patients' expectations and working toward genetic causality through genomic narration and designation.

"If no one grieves, no one will remember": Cultural palimpsests and the creation of social ties through rituals.

Classic sociological theories hold that rituals offer opportunities for community integration and cohesion. Rituals allow people to come together across many differences and experience similar thoughts and feelings. Death rituals raise existential questions about the purpose of society and generally foster preexisting social ties. This paper examines the efforts of a US community of volunteers who gather to bury unclaimed, or "abandoned," babies. Drawing on ethnographic research over a two-year period, we advance the concept of cultural palimpsest to capture the process by which a gathering of strangers turns a potentially divisive political issue in to a community forming event. We find that in their efforts to mourn babies to whom they have no connection, these volunteers temporarily foster new social bonds that allow them to work through unresolved grief. Similar processes of ritualistically inverting social meanings occur whenever people gather to turn potentially negative into group forming events.

Gender destinies: assigning gender in Disorders of Sex Development-Intersex clinics.

Based on audio recordings of consultations in three U.S. paediatric multidisciplinary Disorders of Sex Development-Intersex clinics, we examine the process of gender assignment of children with "atypical" genitalia. Rather than fully determined by the presence of biological sex traits, the gender assignment discussion hinges on how clinician and parent collaboratively imagine different aspects of what constitutes being a gendered person. They orient towards the potential for sexual intimacy, fertility, gender dysphoria, stigma, and gonadal cancer risk. While these futures remain inherently uncertain, clinicians and parents plan to mobilise gender socialisation and medical interventions to render their choice of gender a self-fulfilling prophecy. Gender destinies capture that the child always had a specific, innate gender awaiting discovery, and presumes a project for medical and social monitoring, intervention, correction, and optimisation.

The Actionability of Exome sequencing testing results.

Genomic tests such as exome sequencing have recently become an option for diagnosing patients. The tests allow clinical geneticists to sequence the majority of patients' disease causing genetic variants. As a new technology, exome sequencing confronts the question of what the benefit is of this increased genetic information. Against a narrow perspective of clinical utility that emphasises tangible improvements in a patient's disease management, professional organisations have argued that genomic sequencing should be considered beneficial if it helps families and society. Based on video-recorded observations of the return of exome sequencing results to parents of a child with disabilities in the clinic and in-depth interviews with these parents, we examine how genomic test results become actionable in the clinical encounter. We find that parents and clinicians marshal exome results beyond biomedical diagnostic and management goals to address questions about guilt for causing the disabilities and to secure access to disability-related services. We argue that genomic actionability rests on the interaction between the biological characteristics of genetic results and the predicaments facing parents of children with disabilities.

Trust in standards: transitioning clinical exome sequencing from bench to bedside.

Clinical exome sequencing is a genetic technology making the transition from a laboratory research tool to a routine clinical technique used to diagnose patients. Standards help make this transition by offering authoritative shortcuts for time-intensive tasks, but each shortcut means that something is lost during abstraction. In clinical exome sequencing, reliance on standards may obscure the match between a patient's phenotype and genotype. Based on three years of observations, I show how a clinical exome sequencing team decides when to trust standards and when to develop workarounds. I argue that the match between phenotype and genotype is circumscribed by the team's reliance on specific standards and that trusting in standards means trusting in experts' appropriate use of standards, generating a workflow of reflexive standardization.

High risk, mixed reward: Making genetic test results actionable in cardiology.

Professional organizations point to the underutilization of genetic testing in cardiology as a lack of genetic literacy. Yet, few studies have examined the interpretive work required from clinicians to make results clinically actionable. Based on interviews with twenty-nine cardiologists, we find that although genetic testing may provide epistemic closure by substantiating a suspected diagnosis at the molecular level, genetic testing often disrupted cardiologists' diagnostic inferential processes. These epistemic disruptions were not intrinsic to a particular genetic result type (positive, negative, or VUS), but arose from reconciling genetic results with the patient's symptoms and medical and family history. Drawing from the sociology of diagnosis and professional expertise, we examine how cardiologists resolved epistemic disruptions by either sidelining or repairing genetic test results. However, such attempts at making genetic test results actionable for diagnosis may not resolve epistemic disruptions. We argue that rather than clinicians lacking individual literacy, the limited uptake of genetic test results reflects a collective problem of gaps in the genetic knowledge base that leads to medical agnosis, or an inability to make sense of a patient's symptoms uncertainty, rather than diagnosis.

Maternal Mortality: A National Institutes of Health Pathways to Prevention Panel Report.

The National Institutes of Health's (NIH) Pathways to Prevention panel on postpartum health provides a consensus statement on the evidence, research gaps, and future priorities to prevent maternal morbidity and mortality. The panel reviewed an NIH-commissioned evidence review and workshop that included epidemiologic studies, demonstration interventions, and other maternal morbidity and mortality research to create these national recommendations. The panel concludes that a maternal morbidity and mortality crisis reflects a systemic failure of current U.S. health care, research efforts, and social policies. The panel recommends improving maternal health through a "maternal morbidity and mortality prevention moonshot" that adopts a comprehensive, multilevel life course conceptual framework; strengthens the research methods used within the science of maternal health; establishes and conducts national prevention, treatment, and policy interventions; and reimburses evidence-informed clinical approaches to improve maternal health across the life course. Without a national focus on fundamentally transformative interventions and other initiatives aimed at redressing structural racism and inequities in health care, current interventions and clinical advances in maternal morbidity and mortality prevention will remain tragically insufficient.

Expanded newborn screening: articulating the ontology of diseases with bridging work in the clinic.

Population screening follows the logic of secondary prevention: a population is screened to detect disease early and to initiate treatment before symptoms emerge. However, not all population screening is justifiable under all circumstances. In this article, we unpack Wilson and Jungner's requirement that knowledge about the natural history of a disease must be 'adequate' for screening to proceed. We argue that any prior understanding of disease is inevitably found to be insufficient once population screening is instituted. Drawing upon ethnographic observations of clinical consultations and staff meetings conducted in a California regional clinical centre for metabolic-genetic disorders, we introduce the notion of bridging work to draw attention to the collective activities of the genetics team to revise the ontological nature of conditions unsettled by population-based newborn screening. Bridging work refers to the many activities required to reconcile the promise of technologies with the realities of their implementation. We illustrate how clinicians bridge the gap between what was known about a disease prior to screening and anomalous screening results, leading to an ontological transformation of disease categories.

Cancer patients' understandings of genetic variants of uncertain significance in clinical care.

Genetic variants of uncertain significance (VUSs) pose a growing challenge for patient communication and care in precision genomic medicine. To better understand patient perspectives of VUSs, we draw on qualitative analysis of semi-structured interviews with 22 cancer patients and individuals with cancer family history who received a VUS result. The majority of patients did not recall receiving VUS results and those who remembered expressed few worries, while respondents who were tested because of a family history of cancer were more concerned about the VUS results. Personal characteristics, medical condition, family history, expectations prior to testing, and motivations for pursuing testing influence the ways patients came to terms with the uncertainty of the VUS result. We conclude by discussing the relevance of the findings to the debate on the responsibility of the patient in checking back for VUS reclassification and to implications for genetic counseling that emphasizes tailoring the pre- and post-test discussion of VUS as appropriate to the patients' informational as well as emotional needs.

Fragmented responsibility: views of Israeli HCPs regarding patient recontact following variant reclassification.

While genomic medicine is becoming an important part of patient care with an ever-increasing diagnostic yield, recontacting patients after reclassification of variants of uncertain clinical significance (VUSs) remains a major challenge. Although periodical reinterpretation of VUSs is highly desired, recontacting former patients with new classifications is commonly not fulfilled in practice. We draw on semi-structured interviews with 20 Israeli healthcare professionals and stakeholders involved in communicating the results of genome-wide sequencing to patients. Findings show agreement that an individual health care professional cannot address the task of recontacting patients after re-classification, and that responsibility should be shared among the medical specialties, laboratory scientists, as well as patients. In the absence of established guidelines, many respondents suggested that the patient should be informed about reclassification during a follow-up contact but they disagreed who should be responsible for informing the patient. HCPs agreed that the solution to this challenge involves a centralized automated database that is accessible, continuously updated, and facilitates retrospective as well as prospective flagging of reclassification for patients who can benefit from this information. National and international policies providing concrete guidelines on the optimal way to recontact patients with new valuable genomic information are needed.

Conducting implementation research in community-based primary care: a qualitative study on integrating patient decision support interventions for cancer screening into routine practice.

BACKGROUND: Despite a growing body of evidence supporting the efficacy of patient decision support interventions (DESI), little is known about their implementation in community-based primary care practices. OBJECTIVE: The goal of this study was to explore the feasibility of integrating the use of DESIs for cancer screening in primary care practices serving patients from diverse backgrounds and learn more about the potential barriers and facilitators of integration. SETTING: 12 community-based primary care practices in metropolitan Los Angeles. MAIN VARIABLES STUDIED: Qualitative field notes documented the roles played by staff and physicians in accomplishing project goals, the impact of the programmes on the clinical work-flow in the practices and other noteworthy observations. RESULTS: Practices that were better able to integrate the project had adequate clinic infrastructure, a relatively well-matched patient pool, and positive work and patient care environments. The remaining identified components, including staff facilitation and the physician's role accounted for higher level differences between the clinics, acting as barriers and facilitators that distinguished practices that were able to work independently from those that required more assistance and, to a lesser extent, those clinics that did and those that did not meet the project goals. DISCUSSION AND CONCLUSIONS: This study suggests that implementation of DESIs to be used immediately before a consultation is feasible if the practice infrastructure can provide sufficient basic accommodation and physician and staff are dedicated to patient care goals that are implicit in the use of these tools. Overall, the physician's role appeared to be the most important factor in determining whether project integration was successful.

Arriving at no: Patient pressure to prescribe antibiotics and physicians' responses.

While the vast majority of Acute Respiratory Infections (ARIs) are viral, between a quarter and a third of adults presenting with ARIs are given an antibiotic, making antibiotic prescribing for ARIs a major contributor to the inappropriate prescribing problem. We argue that inappropriate prescribing persists because of the interplay between physicians and patients in the medical visit. Relying on a convenience sample of 68 video recordings of primary care medical visits drawn from corpora collected in 2003-2004 and 2015-2016 in the US, we show that although few patients are "demanding" or "requesting" antibiotics, many convey subtle forms of pressure through priming physicians for a bacterial diagnosis in their problem presentations; nudging towards a bacterial diagnosis during information gathering; and resisting non-antibiotic recommendations during the counseling phase. We find that patient priming, nudging, and resisting are effective strategies to influence clinical prescribing behavior. However, we also identify two ways that physicians can counter patient pressure by working to manage patient expectations through foreshadowing a non-antibiotic outcome and using persuasion when confronted with resistance. These, we show, are effective means of countering patient pressure. We argue for the dual importance of how physicians communicate and when they communicate.

From Medicine to Health: The Proliferation and Diversification of Cultural Authority.

In his account of the medical profession's ascent, Paul Starr drew a distinction between the social authority of physicians and the cultural authority of medicine-between doctors' capacity to direct others' behavior and the ability of medical institutions and discourses to shape meanings of illness, health, wellness, and treatment. Subsequently, scholars have reflected on the social-structural transformations challenging physicians' social authority but neglected shifts in cultural authority. Focusing on the United States, we find a proliferation and diversification of cultural authority, reflecting a partial movement from the domain of medicine into new terrains of health. This shift is apparent in the resurgence of alternative healing, the advent of new forms of self-care and self-monitoring, the rise of health social movements, and the spread of health information online. We advance a research agenda to understand how the mechanisms and dynamics of cultural authority shape contests to speak in the name of health.

Patients-in-waiting: Living between sickness and health in the genomics era.

What are the social consequences of the recent expansion of newborn screening in the United States? The adoption of new screening technologies has generated diagnostic uncertainty about the nature of screening targets, making it unclear not only whether a newborn will develop a disease but also what the condition actually is. Based on observations in a genetics clinic and in-depth interviews with parents and geneticists, we examine how parents and clinical staff work out the social significance of uncertain newborn screening results. We find that some newborns will experience a specific trajectory of prolonged liminality between a state of normal health and pathology. Based on a review of related literatures, we suggest "patients-in-waiting" as an umbrella concept for those under medical surveillance between health and disease.

The continued social transformation of the medical profession.

A pressing concern in contemporary health policy is whether the medical profession's mandate to take care of clients has been undermined by the influx of money into health care. We examine the medical profession's transformation over the past decades. First, we review how sociologists have viewed the medical profession over the past half-century as one stakeholder among other stakeholders vying for market share and power in the health care field. We then examine three recent challenges to the profession that exemplify the tension between self-interest and collective altruism to act in the best interest of patients: (1) the rise of patient consumerism, (2) the advent of evidence-based medicine, and (3) the increasing power of the pharmaceutical industry. We show the resilience of the medical profession as it adapts and transforms in response to these challenges. We conclude with implications to help inform policy makers' assessments of how the medical profession will react to policy initiatives.

The Engaged Patient: The Relevance of Patient-Physician Communication for Twenty-First-Century Health.

The patient-doctor interaction has changed profoundly in the past decades. In reaction to paternalistic communication patterns, health policy makers have advocated for patient-centered care and shared decision-making. Although these models of medical communication remain still aspirational, patients have become more engaged in advocating for their own health in encounters with physicians. I argue that the engaged patient is a more accurate conceptualization of the changing role of the patient than patient consumerism, the empowered, or expert patient. I examine how the emergence of engaged patients influences the autonomy of health professionals, relates to the rise of the internet as an alternative source of medical information, centers the role of the patient-doctor interaction in public health epidemics, and contributes to health inequities.

Medical Authority under Siege: How Clinicians Transform Patient Resistance into Acceptance.

Over the past decades, professional medical authority has been transformed due to internal and external pressures, including weakened institutional support and patient-centered care. Today's patients are more likely to resist treatment recommendations. We examine how patient resistance to treatment recommendations indexes the strength of contemporary professional authority. Using conversation analytic methods, we analyze 39 video recordings of patient-clinician encounters involving pediatric epilepsy patients in which parents resist recommended treatments. We identify three distinct grounds for parental resistance to treatments: preference-, fear-, and experience-based resistance. Clinicians meet these grounds with three corresponding persuasion strategies ranging from pressuring, to coaxing, to accommodating. Rather than giving parents what they want, physicians preserve their professional authority, adjusting responses based on whether the resistance threatens their prerogative to prescribe. While physicians are able to convert most resistance into acceptance, resistance has the potential to change the treatment recommendation and may lead to changed communication styles.