Lay perceptions of genetic testing in Germany and Israel: the interplay of national culture and individual experience

Germany and Israel represent opposite regulatory approaches and bioethical outlooks regarding genetic testing. This study examines lay attitudes (including attitudes of people affected by genetic diseases) in both countries towards genetic testing of adults, focusing on the differences between cultural and personal argumentations, as well as between affected and non-affected perspectives. With regard to three major emerging themes – medical technology/technocratic medicine; economic aspects of healthcare; and personal decision-making – a national contrast was apparent on the cultural level of argumentation, but not in the personal context of decision-making or in the concerns of people affected by genetic diseases. We conclude by discussing the interplay of national culture and individual experience in constructing arguments about the harms and benefits of genetic testing, and the implications for the study of cross-cultural bioethics in the context of “genetic responsibility”.     

The influence of experiential knowledge on prenatal screening and testing decisions

Minimal research focuses on the process of decision making in the context of prenatal screening and testing. This paper outlines an important contextual influence on these decisions. Specifically, we propose that experiential knowledge, particularly about pregnancy, screening, and disability, has a significant influence on prenatal screening and testing decisions. Drawing upon 38 semistructured interviews with women, this study explored how women made prenatal screening and testing decisions. Qualitative data analysis revealed two types of experiential knowledge, empathetic and embodied, which played a pivotal role in women's thinking about the value of prenatal tests and whether or not they accepted the offer of screening, testing, or both. We conclude that prenatal genetic counseling could benefit from an exploration of clients' experiential knowledge, both empathetic and embodied forms.     

Contested futures: envisioning “Personalized,” “Stratified,” and “Precision” medicine

In recent years, discourses around “personalized,” “stratified,” and “precision” medicine have proliferated. These concepts broadly refer to the translational potential carried by new data-intensive biomedical research modes. Each describes expectations about the future of medicine and healthcare that data-intensive innovation promises to bring forth. The definitions and uses of the concepts are, however, plural, contested and characterized by diverse ideas about the kinds of futures that are desired and desirable. In this paper, we unpack key disputes around the “personalized,” “stratified,” and “precision” terms, and map the epistemic, political and economic contexts that structure them as well as the different roles attributed to patients and citizens in competing future imaginaries. We show the ethical and value baggage embedded within the promises that are manufactured through terminological choices and argue that the context and future-oriented nature of these choices helps to understanding how data-intensive biomedical innovations are made socially meaningful.     

The politics of biomedical platforms: controversy around the molecularization of cytogenetics in prenatal diagnosis

The introduction of a new technique based on molecular cytogenetics (the comparative genomic hybridization microarray, Chromosomal Micro-Array) in prenatal diagnosis is here used as an occasion to politically elaborate Cambrosio’s and Keating’s framework of “biomedical platform.” The uncertainty generated by molecularization leaves the field open for two different modalities of implementation: using targeted microarrays to completely replace traditional karyotyping versus using genome-wide analysis of chromosomal anomalies only in at-risk pregnancies. Retracing the global scientific controversy on this issue and, particularly, the heated debate that has taken place in Italy, the paper intends to analyze the rise of a biomedical platform in prenatal diagnosis as a multi-layered phenomenon. Diverging epistemological strategies to deal with uncertainty, professional interests, relationship between medical practice, innovation and research, and patient subjectivities interact with each other, by shedding light on the inherent political dimension in the epistemological and material of an emerging biomedical platform.     

Attitudes of young patients with Parkinson's disease towards possible presymptomatic and prenatal genetic testing

OBJECTIVE: To evaluate the opinions and attitudes of young patients with Parkinson's disease (PD) towards possible presymptomatic and prenatal genetic testing for their illness. Background: With progress in understanding of the genetic component in the etiology of PD, presymptomatic genetic testing may become available in subgroups of patients. METHODS: During a survey on sociodemographic and risk factors 111 PD patients (mean age 45 years: mean age at PD onset 36 years) were given a questionnaire with six items about possible presymptomatic and prenatal genetic testing. RESULTS: Fifty-seven patients (5196) had knowledge about presymptomatic and prenatal testing. Eighty patients (72%) would take a presymptomatic test, if they had an autosomal dominant form of PD and if the test were available. The most Important reasons given for taking the test were planning of partnership (40%) and family (48%). When being identified as a carrier of a presumed "Parkinson gene", 78 patients (70%) would decide not to have children. Sixty-three patients (57%) would choose to have prenatal testing. Attitudes were largely independent of sociodemographic and disease variables. CONCLUSIONS: When addressed as hypothetical persons at genetic risk, young patients with PD support possible presymptomatic genetic testing and, to a lesser extent, prenatal testing. Attitudes and reasons to participate in such hypothetical testing do not grossly differ from those of at-risk persons in established single-gene autosomal dominant disorders of late onset.     

Attitudes and knowledge about presymptomatic genetic testing among individuals at high risk for familial,early-onset Alzheimer's disease

The study was conducted in a large Cuban family with early-onset familial Alzheimer's disease (AD). Fifty-six first-degree relatives of familial cases with AD were interviewed concerning their clinical and genetic knowledge about AD and their attitudes toward the possible use of presymptomatic genetic testing of AD. The individuals had only limited knowledge about their personal risk of developing AD. All 56 family members would use presymptomatic testing to know their own risk of AD. Confronted with a hypothetical reproductive choice, 50% would choose not to have children if they themselves had the mutation. A positive prenatal test would lead 48.2% of the participants to have an abortion, and 19.7% would continue the pregnancy regardless of the positive test result.     

Traveling questions: uncertainty and nonknowledge as vehicles of translation in genetic research participation

In this paper, I argue that uncertainty and nonknowledge, and not just research results, can be important vehicles of translation through which genetic research participation comes to affect the lives of research participants. Based on interviews with participants in a genetic research project, I outline epistemic, emotional, relational and moral implications of research participation. Many of them resemble what the literature has described as the social implications of genetic counseling, but here they stem from interaction with knowledge-in-the-making or what I simply call nonknowledge. While policies aimed at stimulating translation from bench to bedside tend to build on the assumption that research only works when knowledge translates into technological ability and creates utility, I suggest acknowledging that research has implications long before any clinical applications are at hand. Research questions, and not just results, may serve as a generative form of knowledge that can travel as fast as any answer.     

LGBT+ Individuals’ Perceptions of Healthcare Services in Turkey: A Cross-sectional Qualitative Study

When accessing healthcare services, LGBT+ individuals are often exposed to segregating and marginalizing discourses. Knowledge about how such experiences are reflected in the moral world of LGBT+ individuals living in Turkey is limited. This study examined LGBT+ individuals’ lived experiences when utilizing healthcare services. The findings are discussed in terms of moral discourses related to LGBT+ individuals’ gender identity and sexual orientation. A qualitative field study was conducted using semi-structured interviews with fifty-five LGBT+ individuals from Turkish cities who were in contact with various non-governmental organizations that conduct studies on gender identity and sexual orientation. A questionnaire was administered with items on participants’ demographic information, experiences, behavioural patterns, and knowledge regarding healthcare services. The data were analysed thematically. The findings were evaluated within the framework of “access to healthcare service” theme related to “healthcare service demand” context. Additionally, the “interaction with physicians” theme was addressed in the context of “physician–patient/counselee relationship.” LGBT+ individuals state that they are exposed to stigmatizing and segregating discourses by healthcare professionals, which might pose an obstacle for adaptive health-seeking behaviours. These results suggest that physicians’ professional approach has a considerable influence on LGBT+ individuals’ capacity for utilizing healthcare services.     

The meaning of genetic research results: reflections from individuals with and without a known genetic disorder

In the debate about whether to return individual genetic results to research participants, consideration of the nature of results has taken precedence over contextual factors associated with different study designs and populations. We conducted in-depth interviews with 24 individuals who participated in a genotype-driven study of cystic fibrosis: 9 of the individuals had cystic fibrosis, 15 had participated as healthy volunteers, and all had gene variants of interest to the researchers. These interviews revealed that the two groups had different ideas about the meaningfulness of genetic results. Our findings point to the importance of understanding research context, such as participants' relationship with the researcher and whether they have the disease condition under study, when considering whether to return individual results.     

'You don't make genetic test decisions from one day to the next'--using time to preserve moral space

The part played by time in ethics is often taken for granted, yet time is essential to moral decision making. This paper looks at time in ethical decisions about having a genetic test. We use a patient-centred approach, combining empirical research methods with normative ethical analysis to investigate the patients' experience of time in (i) prenatal testing of a foetus for a genetic condition, (ii) predictive or diagnostic testing for breast and colon cancer, or (iii) testing for Huntington's disease (HD). We found that participants often manipulated their experience of time, either using a stepwise process of microdecisions to extend it or, under the time pressure of pregnancy, changing their temporal 'depth of field'. We discuss the implications of these strategies for normative concepts of moral agency, and for clinical ethics.     

On being “actionable”: clinical sequencing and the emerging contours of a regime of genomic medicine in oncology

This article explores commercial, academic, and national initiatives aimed at using sequencing technologies to generate “actionable” genomic results that can be applied to the clinical management of oncology patients. We argue that the term “actionable” is not merely a buzzword, but signals the emergence of a distinctive sociotechnical regime of genomic medicine in oncology. Unlike other regimes of genomic medicine that are organized around assessing and managing inherited risk for developing cancer (e.g. BRCA testing), actionable regimes aim to generate predictive relationships between genetic information and drug therapies, thereby generating new kinds of clinical actions. We explore how these genomic results are made actionable by articulating them with existing clinical routines, clinical trials, regulatory regimes, and health care systems; and in turn, how clinical sequencing programs have begun to reconfigure knowledge and practices in oncology. Actionability regimes confirm the emergence of bio-clinical decision-making in oncology, whereby the articulation of molecular hypotheses and experimental therapeutics become central to patient care.     

Rethinking counselling in prenatal screening: An ethical analysis of informed consent in the context of non-invasive prenatal testing (NIPT)

Informed consent is a key condition for prenatal screening programmes to reach their aim of promoting reproductive autonomy. Reaching this aim is currently being challenged with the introduction of non-invasive prenatal testing (NIPT) in first-trimester prenatal screening programmes: amongst others its procedural ease—it only requires a blood draw and reaches high levels of reliability—might hinder women’s understanding that they should make a personal, informed decision about screening. We offer arguments for a renewed recognition and use of informed consent compared to informed choice, and for a focus on value-consistent choices and personalized informational preferences. We argue for a three-step counselling model in which three decision moments are distinguished and differently addressed: (1) professionals explore women’s values concerning whether and why they wish to know whether their baby has a genetic disorder; (2) women receive layered medical-technical information and are asked to make a decision about screening; (3) during post-test counselling, women are supported in decision-making about the continuation or termination of their pregnancy. This model might also be applicable in other fields of genetic (pre-test) counselling, where techniques for expanding genome analysis and burdensome test-outcomes challenge counselling of patients.     

Genetic testing for women previously diagnosed with breast/ovarian cancer: examining the impact of BRCA1 and BRCA2 mutation searching

This study sought to investigate the impact of BRCA1 and BRCA2 mutation searching on women previously diagnosed with breast or ovarian cancer. In-depth interviews were undertaken with 30 women who had undergone a BRCA1 and BRCA2 mutation search within the clinical setting. The main reasons reported for undergoing mutation searching were: to provide genetic information for other family members, general altruism, curiosity about the aetiology of cancer, and to provide information to facilitate risk management decisions. In the main, the process of undergoing genetic testing was not experienced as anxiety provoking. The benefit of receiving a result confirming the presence of a genetic mutation was seen as an end to uncertainty, whereas the costs included difficulties in disclosing information to kin and potentially increased anxiety about one's own or others' cancer risks. Women receiving an inconclusive test result reported a range of emotional reactions. There was evidence that some women misunderstood the meaning of this result, interpreting it as definitive confirmation that a cancer-predisposing mutation was not present within the family. It is concluded that women with cancer who participate in BRCA1 and BRCA2 testing need to receive clear information about the meaning and implications of the different types of test results. Some recommendations for clinical practice are discussed.     

How Pharmaceutical Industry Employees Manage Competing Commitments in the Face of Public Criticism

The pharmaceutical industry has been criticised for pervasive misconduct. These concerns have generally resulted in increasing regulation. While such regulation is no doubt necessary, it tends to assume that everyone working for pharmaceutical companies is equally motivated by commerce, without much understanding of the specific views and experiences of those who work in different parts of the industry. In order to gain a more nuanced picture of the work that goes on in the “medical affairs” departments of pharmaceutical companies, we conducted 15 semi-structured interviews with professionals working in medical departments of companies in Sydney, Australia. We show that this group of pharmaceutical professionals are committed to their responsibilities both to patients, research participants, and the public and to their companies. Despite the discrepancies between these commitments, our participants did not express much cognitive dissonance, and this appeared to stem from their use of two dialectically related strategies, one of which embraces commerce and the other of which resists the commercial imperative. We interpret these findings through the lens of institutional theory and consider their implications for pharmaceutical ethics and governance.     

Understanding the contribution of synonymous mutations to human disease

Synonymous mutations - sometimes called 'silent' mutations - are now widely acknowledged to be able to cause changes in protein expression, conformation and function. The recent increase in knowledge about the association of genetic variants with disease, particularly through genome-wide association studies, has revealed a substantial contribution of synonymous SNPs to human disease risk and other complex traits. Here we review current understanding of the extent to which synonymous mutations influence disease, the various molecular mechanisms that underlie these effects and the implications for future research and biomedical applications.     

Frontiers in Ecosystem Ecology from a Community Perspective: The Future is Boundless and Bright

In an era of increasingly multidisciplinary science, it is essential to identify the frontiers as well as the core of an inherently holistic discipline: ecosystem ecology. To achieve this, we led a series of town hall events at multiple scientific-society meetings over a two-year period followed by a workshop with a diverse set of ecosystem scientists to review and expand on those outcomes. For the society town hall events ~70 individuals were asked to give short, provocative (the so-called, soapbox) presentations and audience members (~250) filled out tailored surveys. Both presentations and surveys were transcribed and themes were extracted and analyzed before and during the follow-up workshop. Formal ethnographic analysis of the soapbox texts produced three major themes: “frontiers,” “capacity building,” and “barriers to implementation,” including several subthemes. A workshop was held to analyze the ethnographic data where workshop participants further grouped key frontiers as (1) rethinking the drivers of ecosystem change, (2) new insights into ecosystem process and function, (3) evaluating human dimensions of ecosystem ecology, and (4) new angles on problem-solving/applied research. In addition, 13 experts were interviewed to crosscheck interpretations. The survey data, workshop deliberations, and expert interviews suggest that the core of these frontiers defines the current state and provides the foundational knowledge that bounds ecosystem ecology as a discipline. In response to emerging complex environmental issues and ongoing socioecological challenges, the edges of these frontiers expand fundamental ecosystem ecology to engage and intersect with disciplinary realms to create new ways of making sense of complexity, and to develop an even more holistic understanding of ecological systems. In this paper, we present our synthesis of the frontier and core research themes with the goal of inspiring the next wave of studies in ecosystem ecology.     

Genetic testing and genetic counseling among medicaid-enrolled children with autism spectrum disorder in 2001 and 2007

The rise in the prevalence of autism spectrum disorder (ASD) has resulted in increased efforts to understand the causes of this complex set of disorders that emerge early in childhood. Although research in this area is underway and yielding useful, but complex information about ASD, guidelines for the use of genetic testing and counseling among children with ASD conflict. The purpose of this study was to determine the frequency of use of genetic testing and counseling before the widespread implementation of clinical chromosomal microarray (CMA) to establish a baseline for the use of both services and to investigate potential disparities in the use of both services among children with ASD. We found that about two-thirds of children with ASD received genetic testing or counseling and the use of both services is increasing with time, even in the pre-CMA era. Being female and having a comorbid intellectual disability diagnosis both increased the likelihood of receiving genetic testing and genetic counseling. Initial discrepancies in the use of both services based on race/ethnicity suggest that troubling disparities observed in other services delivered to children with ASD and other mental health disorders persist in genetic testing and counseling as well. These results should incentivize further investigation of the impact of genetic testing and counseling on children with ASD and their families, and should drive efforts to explore and confront disparities in the delivery of these services, particularly with the advancing scientific research on this topic.     

Parental attitudes toward genetic testing for pediatric deafness

Recent molecular genetic advances have resulted in genetic testing becoming an option for deaf individuals and their families. However, there is little information about the interest in such testing. To investigate this issue, parents with normal hearing who have one or more deaf children were surveyed about their attitudes toward diagnostic, carrier, and prenatal genetic testing for deafness. This population was chosen because it represents the majority of individuals who are encountered in clinical practice, given that 90%-95% of deaf individuals are born to persons with normal hearing. Of 328 surveys distributed, 96 were completed and returned. Of the respondents, 96% recorded a positive attitude toward genetic testing for deafness, including prenatal testing, although none would use this information to terminate an affected pregnancy. All respondents had a poor understanding of genetics, with 98% both incorrectly estimating the recurrence risk of deafness and misunderstanding the concept of inheritance. Notably, these findings were similar in the group who had had genetic testing for their children and in the group who had not, suggesting either that the parents who received genetic testing did not receive genetic counseling or that the counseling was not effective. On the basis of these results, it was concluded that this population is interested in the use of genetic testing and that testing should not be done without first providing formal genetic counseling. Appropriate counseling can help parents to understand the risks, benefits, and limitations of genetic testing.     

Systems genetics in “-omics” era: current and future development

The systems genetics is an emerging discipline that integrates high-throughput expression profiling technology and systems biology approaches for revealing the molecular mechanism of complex traits, and will improve our understanding of gene functions in the biochemical pathway and genetic interactions between biological molecules. With the rapid advances of microarray analysis technologies, bioinformatics is extensively used in the studies of gene functions, SNP–SNP genetic interactions, LD block–block interactions, miRNA–mRNA interactions, DNA–protein interactions, protein–protein interactions, and functional mapping for LD blocks. Based on bioinformatics panel, which can integrate “-omics” datasets to extract systems knowledge and useful information for explaining the molecular mechanism of complex traits, systems genetics is all about to enhance our understanding of biological processes. Systems biology has provided systems level recognition of various biological phenomena, and constructed the scientific background for the development of systems genetics. In addition, the next-generation sequencing technology and post-genome wide association studies empower the discovery of new gene and rare variants. The integration of different strategies will help to propose novel hypothesis and perfect the theoretical framework of systems genetics, which will make contribution to the future development of systems genetics, and open up a whole new area of genetics.     

How Does Dog-Walking Influence Perceptions of Health and Wellbeing in Healthy Adults? A Qualitative Dog-Walk-Along Study

The aim of this study was to explore perceptions of health and wellbeing related to dog-walking in healthy adults. Ten self-reported healthy adult dog-walkers took part in one dog-walk-along interview, and nine of the 10 participants also attended one follow-up participatory analysis session. All interviews took place within the metropolitan area of Dunedin, Aotearoa/New Zealand. Dog-walk-along interviews were participant-led, audio and video recorded, and transcribed. Participants’ input into the inductive generation of themes was sought during the follow-up participatory analysis session. Three themes were identified: participants had an “Emotional Connection” with their dog(s); dog-walking led to “Healthy Interactions” (social and environmental interactions); and participants had come to value dog-walking for its aggregate benefits for Psychological Wellbeing. Our dog-walk-along interviews have revealed novel insights about how the emotional connection between human and dog strengthens intrinsic motivation to exercise (through dog-walking) whilst concurrently enhancing human psychological wellbeing through the act of giving something that gives pleasure to the dog. Through the combined methods of dog-walk-along interviews and participatory analysis sessions, we were able to identify negative influences on human psychological well-being that included anxiety about both dog behaviors and social encounters with other humans. Positive and negative aspects of dog-walking that we identified can be used by health promotion advocates to refine dog-walking related advice, programs, and initiatives.