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.

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.

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.

"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.

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.

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.

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.

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.

Loneliness in life and in death? Social and demographic patterns of unclaimed deaths.

We examined family isolation, economic hardship, and long-distance migration as potential patterns of an extreme outcome of a lonely death: bodily remains that remain unclaimed and are left to the state. This paper combines a unique dataset-Los Angeles County's records of unclaimed deaths-with the Vital Statistics' Mortality data and the Annual Social and Economic Survey (ASEC) to examine 1) whose remains are more likely to become unclaimed after death and, 2) whether population-level differences and trends in family isolation, economic hardship, and long-distance migration explain the differences in the rates of unclaimed deaths. We employ multivariate Poisson models to estimate relative rates of unclaimed deaths by social and demographic characteristics. We find that increases in never married, divorced/separated, and living without family were positively associated with rates of unclaimed deaths. Unemployment among men and poverty among women was associated with higher unclaimed deaths. Long-distance migration was not associated with more unclaimed bodies.

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.

Inequities in newborn screening: Race and the role of medicaid☆.

Newborn Screening (NBS) is a State-run program that mandates all newborns to be screened for a panel of medical conditions to reduce infant mortality and morbidity. Medicaid is a public health insurance program that expanded access to care for low-income infants. NBS mandates and Medicaid rolled out state-by-state in the 1960s, 70s, and 80s, which are considered significant programs that improved infant health in the latter half of the 20th Century. This article utilized variation in States' timing of NBS mandates and Medicaid implementation to examine changes in infant mortality rates among white and African American infants associated with NBS, Medicaid, and their interaction. The analyses used data from birth and death certificates in the US Vital Statistics from 1959 to 1995. We find that the implementation of NBS mandates alone was not associated with significant declines in infant mortality and coincided with increases in within-state racial inequities. States experienced mortality declines and reduction in racial inequities after implementing Medicaid with NBS mandates.

Development of a decision support tool in pediatric Differences/Disorders of Sex Development.

Decisions about how best to clinically care for young children born with Disorders of Sex Development (DSD) can be challenging because some decisions are irreversible, have lasting physical and mental health effects, and are frequently made before the affected person is able to participate in decision-making. This multi-stage study involved (1) the development of a web-based decision support tool (DST) for parents of infants or young children and the clinicians caring for them; (2) the assessment of communications and decision making between DSD specialists and parents both before and after introduction of the DST; and (3) interviews with a broad range of stakeholders regarding optimizing the DST and integrating it into usual care. Experience over the course of the 3 stages of this research suggests the need for further refinement of the DST to increase acceptability to all stakeholder groups, the necessity to address misperceptions by providers that they are already accomplishing all aspects of SDM in regular care without a DST and misunderstandings by parents that decisions are unnecessary because only a single option is apparent, and to better incorporate the tool into regular clinic workflow.

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.

Coming to terms with the imperfectly normal child: attitudes of Israeli parents of screen-positive infants regarding subsequent prenatal diagnosis.

This study examines the interface between newborn screening and prenatal diagnosis from the point-of-view of parents of screen-positive children. Many conditions covered by newborn screening represent classic (autosomal recessive) Mendelian disorders. Parents of screen-positive infants therefore often come to learn that they are carriers of the disease, and face a decision whether to test for it in future pregnancies. Semi-structured interviews were conducted in 2015-2017 with 34 Israeli parents whose child was screen positive. Three major themes emanated from the parents' attitudes toward prenatal testing for the disease in prospective hypothetical pregnancies: rejection of prenatal testing for the disease associated with the screen positive, and relying instead on newborn screening to reveal if a future baby is also sick (18/34, 53%); support of prenatal testing to get more information (7/34, 21%) and support of prenatal testing in order to abort in case of a test positive (9/34, 26%). We discuss the importance of newborn screening for reproductive decision-making, highlighting the arguments associated with positive and negative parental views of the possibility of having another child with the same condition associated with the screen-positive of the child that had already been born. The conclusions challenge the common assertion that parents pursue the dream of the "perfect child" through prenatal diagnosis that "naturally" leads to selective abortion. The diversity of views expressed by Israeli parents of screen-positive children highlights the diversity of normative scripts of "genetic responsibility" in the context of parenthood.

Does Patient-centered Care Change Genital Surgery Decisions? The Strategic Use of Clinical Uncertainty in Disorders of Sex Development Clinics.

Genital surgery in children with ambiguous or atypical genitalia has been marred by controversies about the appropriateness and timing of surgery, generating clinical uncertainty about decision making. Since 2006, medical experts and patient advocates have argued for putting the child's needs central as patient-centered care. Based on audio recordings of 31 parent-clinician interactions in three clinics of disorders of sex development, we analyze how parents and clinicians decide on genital surgery. We find that clinicians and parents aim for parent-centered rather than infant-centered care. Parents receive ambivalent messages about surgery: while clinicians express caution, they also present the surgery as beneficial. We examine how parents and clinicians reach agreement about surgery-differentiating parents who push strongly for surgery from parents who do not express any preconceived preferences about surgery and parents who resist surgery. We conclude that clinicians use clinical uncertainty about surgery strategically to direct parents toward perceived clinically appropriate decisions.

Clinical forecasting: Towards a sociology of prognosis.

Much of our understanding of prognosis in clinical settings comes from end-of-life situations but prognostication is also a concern in chronic illnesses. Parents of children living with seizures wonder what the future holds: will the child outgrow their seizures, or will they remain a part of their child's life? Based on video recordings of clinic consultations between pediatric neurologists and families, we examine how clinicians convey a child's prognosis. We find that neurologists mainly communicate the prognosis indirectly through the goals they set for the child, the time frame of attaining these goals, and the uncertainties they highlight regarding the attainability of the goals. By modulating goals and erring on the side of optimism, clinicians maintain a collaborative relationship even if the prognosis turns increasingly dire.