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.

The interplay of ethics and genetic technologies in balancing the social valuation of the human genome in UNESCO declarations.

This study investigates changes in the social valuation of the human genome over the more than 30 years since the establishment of the Human Genome Project. It offers a descriptive sociological analysis of the three waves of this valuation, mainly by considering three key UNESCO declarations and a relevant report. These waves represent a shifting balance between collectivism and individualism, starting with a broadly constructed valuation of the human genome as common human heritage and moving toward a valuation of dynamic applications within various social and medical contexts (e.g., personalized genomic medicine and genome editing). We seek to broaden the analytical perspective by examining how the declarations' ethical foci are framed within the context of rapidly evolving genetic technologies and their social applications. We conclude by discussing continuity and change in value balancing vis-à-vis changing genomic technologies.

Non-invasive prenatal testing (NIPT): is routinization problematic?

BACKGROUND: The introduction and wide application of non-invasive prenatal testing (NIPT) has triggered further evolution of routines in the practice of prenatal diagnosis. 'Routinization' of prenatal diagnosis however has been associated with hampered informed choice and eugenic attitudes or outcomes. It is viewed, at least in some countries, with great suspicion in both bioethics and public discourse. However, it is a heterogeneous phenomenon that needs to be scrutinized in the wider context of social practices of reproductive genetics. In different countries with their different regulatory frameworks, different patterns of routines emerge that have different ethical implications. This paper discusses an ethics of routines informed by the perspectives of organizational sociology and psychology, where a routine is defined as a repetitive, recognizable pattern of interdependent organizational actions that is carried out by multiple performers. We favour a process approach that debunks the view - which gives way to most of the concerns - that routines are always blindly performed. If this is so, routines are therefore not necessarily incompatible with responsible decision-making. Free and informed decision-making can, as we argue, be a key criterion for the ethical evaluation of testing routines. If free and informed decision-making by each pregnant woman is the objective, routines in prenatal testing may not be ethically problematic, but rather are defensible and helpful. We compare recent experiences of NIPT routines in the context of prenatal screening programmes in Germany, Israel and the Netherlands. Notable variation can be observed between these three countries (i) in the levels of routinization around NIPT, (ii) in the scope of routinization, and (iii) in public attitudes toward routinized prenatal testing. CONCLUSION: An ethics of routines in the field of prenatal diagnostics should incorporate and work with the necessary distinctions between levels and forms of routines, in order to develop sound criteria for their evaluation.

Behavioral Self-Blame in PTSD-Etiology, Risk Factors, and Proposed Interventions.

BACKGROUND: Feeling out of control during a traumatic event may evoke behavioral self-blame (BSB) to avoid feeling helpless following trauma by restoring one's sense of control. BSB is a common, persistent, and treatment-resistant post-traumatic stress symptom. The present study investigates the etiology and risk factors of BSB following a traumatic event and the reasons for its persistence over time. METHOD: Subjects were a group of 546 Israeli ex-combat soldiers (M age = 24.93 ± 5.657) registered in an Israel Defense Forces (IDF) combat reaction clinic. All completed the Peritraumatic Dissociative Experiences Questionnaire (PDEQ), the Brief Symptom Inventory (BSI), and the PTSD Checklist for the DSM-5 (PCL-5). Item 10 of the PCL-5 served to measure BSB. The PDEQ and BSI measured distress and feeling out of control during the event. We used descriptive analyses of the data, t-test, and linear regression analysis to reveal the relationship between the research variables. RESULTS: Feeling out of control during a traumatic event often increases BSB and post-traumatic stress symptoms. A significant correlation emerged between continuing distress characterizing individuals who experience a persistent lack of control and BSB. Female combat soldiers were at a higher risk of BSB than their male counterparts. CONCLUSION: Loss of control experienced during a traumatic event may result in persistent long-term feelings of lack of control over one's behavior.

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.

Views on disability and prenatal testing among families with Down syndrome and disability activists: A comparative analysis of interviews from Germany and Israel.

The prenatal genetic testing arena has witnessed great changes over the past decades and has been the focus of extensive discussion of its ethical, legal, and social implications. Germany and Israel were previously known for strongly contrasting regulations and attitudes of both professionals and laypeople towards genetic testing. Based on qualitative analysis of 37 semi-structured interviews, this study compares German and Israeli family members of individuals with Down syndrome and disability activists, thereby examining the interplay between lived experience and cultural scripts and their impact on the formation of personal views toward disability and prenatal testing. We have found that the differences between Germany and Israel remain, despite the emergence of new technologies, and that family members and disability activists reflect the norms of their socio-cultural environments, thereby emphasising the role society plays in shaping the views of those with direct experience of disability.

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.

Unmet communication needs and moral work in the disposition decision concerning surplus frozen embryos: The perspectives of IVF users.

The disposition decision is a frequently unresolved issue for many IVF users with surplus frozen embryos (SFEs), and this study draws attention to their experiences and moral work, locating it in the Jewish-Israeli context that legally enables the donation of SFEs to research but prohibits donation to other infertile people. To explore the (mis)understandings and (mis)communication underlying IVF users' decisions concerning the fate of their SFEs, the records of 674 IVF users with SFEs stored for more than 5 years during 1996-2011 were analyzed, and 89 IVF users with different disposition decisions were recruited for semi-structured interviews. With an average of 5.1 SFEs, after an average of 8 years of storage, no response to a written request for a disposition decision came from 60% (n = 404) of IVF users with SFEs. Payment for storage and defrosting were the two most frequent choices (13%, n = 89 and 89, respectively) followed by donation to research and transfer (7%, n = 47 and 45, respectively). Three themes emerged from the interviews: misunderstanding the consequences of not returning the disposition form, communication gaps regarding donation to research, and the unmet wish to donate embryos to infertile people. We conclude by discussing the experiences and views of IVF users as reflecting the implications of the liminality and boundary-work surrounding the frozen embryo as a moral work object, and their consequences for policy recommendations.

Who Takes Part in the Political Game? The Sex Work Governance Debate in Israel.

INTRODUCTION: This study explores the recent neo-abolitionist legislation of the Israeli sex industry by illustrating the competing claims of various stakeholders: those leading the legal change and those protesting it. The main question is how Israeli sex workers perceive the public debate over governing the Israeli sex industry. METHODS: This study combines qualitative methods that include ethnographic observations and interviews. The ethnographic observations were carried out between November 2018 and October 2019 in gatherings, protests, and academic conferences where sex workers were the lead speakers. In addition, 16 in-depth semi-structured interviews were conducted with sex workers across various indoor sectors, and four interviews were conducted with political figures to learn about their efforts to adopt neo-abolitionist legislation. RESULTS: the Israeli legislative proceedings initiated in 2007 deny sex workers a voice and exclude them from the political space and policy debates that have a direct bearing on their working lives and wellbeing. Thus, Israeli sex workers perceive sex work governance as controlling their agency and deepening their stigmatization. In this process, we show how contrasting groups became strange bedfellows in their attempt to protect sex workers by incriminating clients of the sex industry. CONCLUSIONS: We conclude that the binary framings of debates about sex work in Israel do not address the actual needs or political desires of sex workers who are ignored and excluded from the discourse about them. POLICY IMPLICATIONS: Furthermore, we conclude that the issue at hand is not about permitting sex workers to express their views but rather about the need to listen to their critiques to ensure that policy is built on their knowledge and experience.

The mask of autism: Social camouflaging and impression management as coping/normalization from the perspectives of autistic adults.

Autism entails impression management, including social camouflaging, under conditions of conflict and stigma, with reduced ability to perform such social interaction as well as an increased toll that accompanies it. To examine the meanings of impression management and social camouflaging from the point-of-view of autistic people, we conducted a participatory study that included semi-structured interviews with 24 Israeli autistic adults in 2017-2018. We present views on the difference between camouflaging and impression management; impression management as a social asset; the ambivalence of camouflaging; the limits of impression management; and autistic forms of social communication that provide an alternative to impression management and camouflaging. These perspectives are discussed as leading from prioritizing social integration to prioritizing autistic empowerment. We further explore how the stigma of autism is turned, through camouflaging, into the mask of autism, offering to deconstruct the neurotypical premises of academically-approved concepts of socialization and impression management. Emancipatory participative research thus provides a unique opportunity not only to sociologically explore the deeper contours of "social disability" but also the "disabilities of sociology", offering directions for the neuro-diversification of sociology, in parallel with the recent thrust of building a "sociology of autism".

Correction: Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Attitudes of Israeli parents of children with Down syndrome toward non-invasive prenatal screening and the scope of prenatal testing.

Due to its early utilization and increasing ability to provide genetic information, non-invasive prenatal screening (NIPS) has reinforced social and bioethical quandaries concerning prenatal genetics. This paper presents exploratory findings based on 20 semi-structured interviews conducted in 2017-2019 with Israeli parents of children with Down syndrome (DS), four of whom also serving as representatives of DS organizations. Their views are presented regarding the pros and cons of NIPS; the social context of decision-making about NIPS; and views on life with DS and termination of pregnancies on that ground. While illustrating the large heterogeneity of views concerning NIPS and prenatal diagnosis (PND) amongst parents of children with DS, our respondents commonly criticized the imbalanced information provided by professionals regarding DS, seen as sending a discriminating message in line with the public ignorance surrounding DS. These views are further discussed in the multi-cultural, ableist and pro-natal context of Israeli society. We conclude by offering practical implications concerning NIPS, parental autonomy, and informed choice.