BackgroundClinical ethical practice (CEP) is required for healthcare workers (HCWs) to improve health-care delivery. However, there are gaps between accepted ethical standards and CEP in Ethiopia. There have been limited studies conducted on CEP in the country. Therefore, this study aimed to determine the magnitude and associated factors of CEP among healthcare workers in healthcare facilities in Ethiopia.MethodFrom February to April 2021, a mixed-method study was conducted in 24 health facilities, combining quantitative and qualitative methods. Quantitative (survey questionnaire) and (...) qualitative (semi-structured interviews) data were collected. For quantitative and qualitative data analysis, Stata version 14 and Atlas.ti version 7 were utilized. Multiple logistic regression and thematic analysis for quantative and qualitative respectively used.ResultsFrom a total of 432 study participants, 407 HCWs were involved in the quantitative analysis, 36 participants were involved in five focus group discussions (FGDs), and eleven key informant interviews (KIIs) were involved in the qualitative analysis. The score of good CEP was 32.68%. Similarly, the scores of good knowledge and attitude were 33.50% and 25.31%, respectively. In the multiple logistic regression models, satisfaction with the current profession, availability of functional CECs, compassionate leaders, previously thought clinical ethics in pre-service education and good attitude were significant factors associated with CEP. Among these significant factors, knowledge, compassionate leaders, poor infrastructure, a conducive environment and positive attitudes were also determinants of CEP according to qualitative findings.ConclusionsThe CEP in health care services in Ethiopia is low. Satisfaction with the current profession, functional CECs, positive attitude, compassionate leaders and previously thought clinical ethics were significant factors associated with CEP. The Ministry of Health (MoH) should integrate interventions by considering CECs, compassionate leadership, and positive attitudes and enhance the knowledge of health professionals. Additionally, digitalization, intersectoral collaboration and institutionalization are important for promoting CEP. (shrink)

The acquisition of genetic information (GI) confronts both the affected individuals and healthcare providers with difficult, ambivalent decisions. Genetic responsibility (GR) has become a key concept in both ethical and socioempirical literature addressing how and by whom decision-making with respect to the morality of GI is approached. However, despite its prominence, the precise meaning of the concept of GR remains vague. Therefore, we conducted a systematic literature review on the usage of the concept of GR in qualitative, socioempirical studies, (...) to identify the main interpretations and to provide conceptual clarification. The review identified 75 studies with primarily an Anglo-American setting. The studies focused on several agents: the individual, the family, the parent, the healthcare professional, and the institution and refer to the concept of GR on the basis of either a rational/principle-oriented approach or an affective/relational approach. A subtype of the rational/principle-oriented approach is the reactive approach. The review shows how the concept of GR is useful for analyzing and theorizing about socioempirical findings within qualitative socioempirical studies and also reveals conceptual deficits in terms of insufficient theoretical accuracy and heterogeneity, and in the rarity of reflection on cultural variance. The vagueness and multiplicity of meanings for GR in socioempirical studies can be avoided by more normative-theoretical explication of the underlying premises. This would provide a higher degree of differentiation of empirical findings. Thereby, the complex findings associated with the individual and social implications of genetic testing in empirical studies can be better addressed from a theoretical point of view and can subsequently have a stronger impact on normative and policy debates. (shrink)

Background: Seeking consent for genetic and genomic research can be challenging, particularly in populations with low literacy levels, and in emergency situations. All of these factors were relevant to the MalariaGEN study of genetic factors influencing immune responses to malaria in northern rural Ghana. This study sought to identify issues arising in practice during the enrolment of paediatric cases with severe malaria and matched healthy controls into the MalariaGEN study. Methods: The study used a rapid assessment incorporating multiple qualitative (...) methods including in depth interviews, focus group discussions and observations of consent processes. Differences between verbal information provided during community engagement processes, and consent processes during the enrolment of cases and controls were identified, as well as the factors influencing the tailoring of such information. Results: MalariaGEN participants and field staff seeking consent were generally satisfied with their understanding of the project and were familiar with aspects of the study relating to malaria. Some genetic aspects of the study were also well understood. Participants and staff seeking consent were less aware of the methodologies employed during genomic research and their implications, such as the breadth of data generated and the potential for future secondary research.Moreover, trust in and previous experience with the Navrongo Health Research Centre which was conducting the research influenced beliefs about the benefits of participating in the MalariaGEN study and subsequent decision-making about research participation. Conclusions: It is important to recognise that some aspects of complex genomic research may be of less interest to and less well understood by research participants and that such gaps in understanding may not be entirely addressed by best practice in the design and conduct of consent processes. In such circumstances consideration needs to be given to additional protections for participants that may need to be implemented in such research, and how best to provide such protections.Capacity building for research ethics committees with limited familiarity with genetic and genomic research, and appropriate engagement with communities to elicit opinions of the ethical issues arising and acceptability of downstream uses of genome wide association data are likely to be important. (shrink)

Seeking consent for genetic and genomic research can be challenging, particularly in populations with low literacy levels, and in emergency situations. All of these factors were relevant to the MalariaGEN study of genetic factors influencing immune responses to malaria in northern rural Ghana. This study sought to identify issues arising in practice during the enrolment of paediatric cases with severe malaria and matched healthy controls into the MalariaGEN study.

Background Generally, there is unanimity about the value of community engagement in health-related research. There is also a growing tendency to view genetics and genomics research (GGR) as a special category of research, the conduct of which including community engagement (CE) as needing additional caution. One of the motivations of this study was to establish how differently if at all, we should think about CE in GGR. Aim To assess the perspectives of genetics and genomics researchers in Uganda (...) on CE in GGR. Method A cross-sectional qualitative study was conducted at Makerere University and Uganda Virus Research Institute. Twenty-five individuals participated, the majority being male (sixteen). Participants included nineteen genetics and genomics researchers (researchers and research coordinators), two CE officers, three nurses and one nursing counsellor. Data were collected using in-depth interviews and analyzed in a thematic manner using NVivo version 12 Plus. Study findings Thirteen of the respondents had conducted CE in their GGR in either a geographical and disease-specific community. Some respondents said CE principles are the same and there is no need for special consideration for CE in GGR. Others gave ethical issues in GGR that require special consideration for CE in such research and these were categorized into six themes: GGR is new to communities, Difficulty in communicating GGR by the researchers, Genes are shared in communities, Cultural sensitivities against GGR, Community attitude toward GGR, Some GGR studies take long to end, and Negotiation of research benefits. Special considerations for CE when conducting GGR were suggested and categorized into seven themes: creating awareness of GGR in communities, obtaining both community acceptance and individual consent, CE team composition, involve communities in solving GGR challenges, prolong CE in some GGR, develop guidelines for CE in GGR, and legal considerations on GGR. Conclusion GGR was characterized by special issues that require special CE considerations for such research. (shrink)

Beauchamp and Childress’ definition of autonomous decision‐making includes the conditions of intentionality, understanding, and non‐control. In genetics, however, a relational conception of autonomy has been increasingly recognized. This article aims to empirically assess aspects of social influence in genetic testing decision‐making and to connect these with principlist and relational theories of autonomy. We interviewed 18 adult genetic counsellees without capacity issues considering predictive genetic testing for cancer predisposition for themselves and two counselling physicians in Switzerland. We conducted a (...) class='Hi'>qualitative analysis, building on a grounded theory study about predictive genetic testing decision‐making. We found that some participants agreed to predictive genetic testing predominantly because relatives wanted them to do it, with some even acting contrary to their own convictions. Others, in contrast, based their decision on purely individualistic reasons but expressed difficulties in explaining their decision to their social environment. Healthcare professionals had a critical influence on decision‐making in many cases without being manipulative, as perceived by counsellees. Still, cases of coercion and social pressure occurred within social relationships. In conclusion, predictive genetic testing decision‐making includes relational and individualistic aspects, and both are compatible with autonomous decision‐making. While the principlist and relational notions of autonomy compete on a theoretical level, they are two sides of the same coin when used as analytical lenses for genetic testing decision‐making. Social acceptance of refusal of testing should be improved to mitigate social pressure. Individuals should be encouraged to decide for themselves how much their social environment influences their decision regarding predictive genetic testing. (shrink)

BackgroundThe consent process for a genetic study is challenging when the research is conducted in a group stigmatized because of beliefs that the disease is familial. Podoconiosis, also known as 'mossy foot', is an example of such a disease. It is a condition resulting in swelling of the lower legs among people exposed to red clay soil. It is a very stigmatizing problem in endemic areas of Ethiopia because of the widely held opinion that the disease runs in families and (...) is untreatable. The aim of this study was to explore the impact of social stigma on the process of obtaining consent for a study on the genetics of podoconiosis in Southern Ethiopia.MethodsWe adapted a rapid assessment tool validated in The Gambia. The methodology was qualitative involving focus-group discussions (n = 4) and in-depth interviews (n = 25) with community members, fieldworkers, researchers and staff of the Mossy Foot Treatment and Prevention Association (MFTPA) working on prevention and treatment of podoconiosis.ResultsWe found that patients were afraid of participation in a genetic study for fear the study might aggravate stigmatization by publicizing the familial nature of the disease. The MFTPA was also concerned that discussion about the familial nature of podoconiosis would disappoint patients and would threaten the trust they have in the organization. In addition, participants of the rapid assessment stressed that the genetic study should be approved at family level before prospective participants are approached for consent. Based on this feedback, we developed and implemented a consent process involving community consensus and education of fieldworkers, community members and health workers. In addition, we utilized the experience and established trust of the MFTPA to diminish the perceived risk.ConclusionThe study showed that the consent process developed based on issues highlighted in the rapid assessment facilitated recruitment of participants and increased their confidence that the genetic research would not fuel stigma. Therefore, investigators must seek to assess and address risks of research from prospective participants' perspectives. This involves understanding the issues in the society, the culture, community dialogues and developing a consent process that takes all these into consideration. (shrink)

BackgroundThe return of genetics and genomics research results has been a subject of ongoing global debate. Such feedback is ethically desirable to update participants on research findings particularly those deemed clinically significant. Although there is limited literature, debate continues in African on what constitutes appropriate practice regarding the return of results for genetics and genomics research. This study explored perspectives and ethical considerations of Ugandan genomics researchers regarding the return of genetics and genomics research results.MethodsThis was a (...) qualitative study that employed in-depth interviews. Thirty participants were purposively selected based on their expertise as genomics researchers in Uganda. Data were analysed through content analysis along the main themes of the study using a comprehensive thematic matrix, to identify common patterns arising from the narratives. NVivo software 12 was used to support data analysis.ResultsThe return of genetics and genomics research results was generally acceptable to researchers, and some indicated that they had previously returned individual or aggregate results to participants and communities. The main reasons cited for sharing research results with participants included their clinical utility, actionability and overall benefit to society. Ethical considerations for appropriate return of results included a need for effective community engagement, genetic counselling prior to disclosure of the results, adequate informed consent, and proper assessment of the implications of, or consequences of returning of results. However, the approaches to return of results were perceived as unstandardized due to the lack of appropriate regulatory frameworks.ConclusionsThe return of genetic and genomic research results is generally acceptable to researchers despite the lack of appropriate regulatory frameworks. Ethical considerations for return of genetics and genomics research results are highly divergent, hence the need for national ethical guidelines to appropriately regulate the practice. (shrink)

Aims: To describe individuals’ perceptions of the activities that take place within the cancer genetics clinic, the relationships between these activities and how these relationships are sustained. Design: Qualitative interview study. Participants: Forty individuals involved in carrying out cancer genetics research in either a clinical (n = 28) or research-only (n = 12) capacity in the UK. Findings: Interviewees perceive research and clinical practice in the subspecialty of cancer genetics as interdependent. The boundary between research and (...) clinical practice is described as vague or blurred, and this ambiguity is regarded as being sustained by a range of methodological, ethical and economic factors. The implications of these findings for the “therapeutic misconception” are explored. It is argued that while research participation is seen as having therapeutic benefit for individual patients, the interviewees are not labouring under any misconceptions about the relationship between research and clinical care. It is suggested that concepts such as the “therapeutic misconception” may have less relevance in highly technological specialities that are characterised by a developing evidence base. (shrink)

Genetic results are usually not returned to research participants in Uganda despite their increased demand. We report on researchers’ perceptions and experiences of return of individual genetic research results. The study involved 15 in-depth interviews of investigators involved in genetics and/or genomic research. A thematic approach was used to interpret the results. The four themes that emerged from the data were the need for return of individual results including incidental findings, community engagement and the consenting process, implications and challenges (...) to return of individual results. While researchers are willing to return clinically significant genetic results to research participants, they remain unsure of how this should be implemented. Suggestions to aid implementation of return of results included reconsenting of participants before receiving individual genetic results and increasing access to genetic counseling services. Community engagement to determine community perceptions and individual preferences for the return of results, and also prepare participants to safely receive results emerged as another way to support return of results. Researchers have a positive attitude toward the return of clinically significant genetic results to research participants. There is need to develop national guidance on genetic research and also build capacity for clinical genetics and genetic counseling. (shrink)

BackgroundThe Arab population in Israel is a minority ethnic group with its own distinct cultural subgroups. Minority populations are known to underutilize genetic tests and counseling services, thereby undermining the effectiveness of these services among such populations. However, the general and culture-specific reasons for this underutilization are not well defined. Moreover, Arab populations and their key cultural-religious subsets (Muslims, Christians, and Druze) do not reside exclusively in Israel, but are rather found as a minority group in many European and North (...) American countries. Therefore, focusing on the Arab population in Israel allows for the examination of attitudes regarding genetic testing and counseling among this globally important ethnic minority population.MethodsWe used a qualitative research method, employing individual interviews with 18 women of childbearing age from three religious subgroups (i.e., Druze, Muslim, and Christian) who reside in the Acre district, along with focus group discussions with healthcare providers (HCPs; 9 nurses and 7 genetic counselors) working in the same geographical district.ResultsA general lack of knowledge regarding the goals and practice of genetic counseling resulting in negative preconceptions of genetic testing was identified amongst all counselees. Counselors’ objective of respecting patient autonomy in decision-making, together with counselees’ misunderstanding of genetic risk data, caused uncertainty, frustration, and distrust. In addition, certain interesting variations were found between the different religious subgroups regarding their attitudes to genetic counseling.ConclusionsThe study highlights the miscommunications between HCPs, particularly counselors from the majority ethno-cultural group, and counselees from a minority ethno-cultural group. The need for nuanced understanding of the complex perspectives of minority ethno-cultural groups is also emphasized. Such an understanding may enhance the effectiveness of genetic testing and counseling among the Arab minority group while also genuinely empowering the personal autonomy of counselees from this minority group in Israel and other countries. (shrink)

New Breeding Techniques such as CRISPR-Cas9 are revolutionizing plant breeding and food production. Experts believe that the social debate about these technologies could be similar to those on green genetic engineering: emotional and highly controversial. Future debate about Genome Editing could benefit from a better understanding of the GMO (genetically modified organism) controversy. Against this background, this paper (a) presents results of a content analysis of position papers criticizing green genetic engineering in Germany. In particular, (b) it focuses on the (...) controversy as a place where normative concepts of nature are debated and become visible. Hence, the study complements existing interpretations by showing that the emerging concepts are more diverse than the familiar reductionist breakdown of the debate into anthropocentric vs. non-anthropocentric conceptions suggests. (shrink)

Research ethicists have recently declared a new ethical imperative: that researchers should communicate the results of research to participants. For some analysts, the obligation is restricted to the communication of the general findings or conclusions of the study. However, other analysts extend the obligation to the disclosure of individual research results, especially where these results are perceived to have clinical relevance. Several scholars have advanced cogent critiques of the putative obligation to disclose individual research results. They question whether ethical goals (...) are served by disclosure or violated by non-disclosure, and whether the communication of research results respects ethically salient differences between research practices and clinical care. Empirical data on these questions are limited. Available evidence suggests, on the one hand, growing support for disclosure, and on the other, the potential for significant harm. (shrink)

Direct-to-consumer (DTC) genetic tests (GT) enable consumers to access a wide range of GT, without involving a healthcare professional, promoting an increasing disassociation of genetics from the clinical context. This study explores, through semi-structured interviews, the experiences and attitudes of European clinical geneticists towards DTCGT. Our results indicate that the participants have limited experience of consultations with patients regarding such tests. The majority of participants stated that consumers purchased tests out of curiosity and sought a general interpretation of test (...) results by a healthcare professional. Most respondents were skeptical of the quality of tests, especially regarding their clinical utility. The participants supported the importance of medical supervision and genetic counseling in this context. Finally, most respondents considered it their duty to accept consultations concerning DTCGT results. However, due to concerns over limited time and potential downstream costs, some participants supported that a prioritization system based on guidelines would be necessary. (shrink)

This paper challenges the common assumption that some phenotypic traits are quantitative while others are qualitative. The distinction between these two kinds of traits is widely influential in biological and biomedical research as well as in scientific education and communication. This is probably due to both historical and epistemological reasons. However, the quantitative/qualitative distinction involves a variety of simplifications on the genetic causes of phenotypic variability and on the development of complex traits. Here, I examine three cases from (...) the life sciences that show inconsistencies in the distinction: Mendelian traits, Mendelian diseases, and polygenic mental disorders. I show that these traits can be framed both quantitatively and qualitatively depending, for instance, on the methods through which they are investigated and on specific epistemic purposes. This suggests that the received view of quantitative and qualitative traits has a limited heuristic power—limited to some local contexts or to the specific methodologies adopted. Throughout the paper, I provide directions for framing phenotypes beyond the quantitative/qualitative distinction. I conclude by pointing at the necessity of developing a principled characterisation of what phenotypic traits, in general, are. (shrink)

In this paper, I compare various theories of perception in relation to the question of the epistemological and ontological status of the qualities that appear in perceptual experience. I group these theories into two main views: quality externalism and quality internalism, and I highlight their contrasting problems in accounting for phenomena such as perceptual relativity, illusions and hallucinations. Then, I propose an alternative view, which I call qualitative relationism and which conceives of the subject and the object of perceptual (...) experience as essentially related to one another in a process of co-constitution out of fundamental qualities. I lend support to this view by drawing on Husserl’s genetic phenomenology, which I complement with a form of neutral monism. I argue that the investigation of the temporal structure of perceptual experience leads us to find at its heart a qualitative process that is more fundamental than the two relata of perception and that gives rise to them. Then, I extend this account of perception into a general theory of intentionality and experience and I develop its implications into a neutral monist metaphysics. (shrink)

Genetic relatedness figures heavily in contemporary ethical debates on egg freezing, although the arguments lack empirical‐based evidence. Rather than adding another theoretical view on the moral relevance of genetic connections, this paper instead proposes an empirically grounded perspective based on two independent qualitative interview‐based studies conducted in Belgium and France. Three themes emerge from our empirical data: (1) prioritizing family building; (2) centering the gestational experience of motherhood; and (3) identifying the complexities and limitations of adoption. These themes suggest (...) that the relationship between egg freezing, genetics, biological motherhood, and adoption is highly complex and less straightforward than what is often assumed in the egg freezing debate. Our study provides more detailed insights into women's ambivalent experiences regarding those reproductive options. We discuss the ethical implications of our empirical findings and hold that pursuing genetic desire is not necessarily the main moral reason why women freeze their eggs. (shrink)

ABSTRACT 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. (shrink)

Internationally, there is considerable inconsistency in the recognition and regulation of children's genetic connections outside the family. In the context of gamete and embryo donation, challenges for regulation seem endless. In this paper, I review some of the paths that have been taken to manage children' being closely genetically related to people outside their families. I do so against the background of recognising the importance of children's interests as moral status holders. I look at recent qualitative research involving donor-conceived (...) people and borrow their own words to make sense of a purported interest to know (of) their close genetic ties. I also review ways in which gamete donation may have facilitated new kinds of kinship, which are at the same time genetic and chosen. In short, in this paper, I explore what meaning there could be in genetic connections that is not about parenthood. Further, I argue that the focus on parenthood in previous work in this area may be detrimental to appreciating some of the goods that can be derived from close genetic connections. (shrink)

Genetic information about one individual often has medical and reproductive implications for that individual’s relatives. There is a debate about whether policy on transmitting genetic information within the family should change to reflect this shared aspect of genetic information. Even if laws on medical confidentiality remain unchanged, there still remains the question of professional practice and whether, to what extent and by what means professionals should encourage disclosure within a family. The debate so far has tended to focus on who (...) has a right to genetic information, or has a right to decline genetic information, frequently drawing on the notion of individual autonomy. There are significant divergences within this debate, and difficulties with the use of autonomy in this context have been noted. This paper draws on theoretical considerations as well as on qualitative empirical data to show that shifting from talk of autonomy to talk of integrity will greatly enrich and illuminate the issues. It becomes possible to gain deeper insights into the ethical significance of the timing and the manner of such communication, the character of recipients of knowledge, and the nuanced nature of communication and different levels of understanding within a family. (shrink)

BackgroundGenetic/genomic testing (GGT) are useful tools for improving health and preventing diseases. Still, since GGT deals with sensitive personal information that could significantly impact a patient’s life or that of their family, it becomes imperative to consider Ethical, Legal and Social Implications (ELSI). Thus, ELSI studies aim to identify and address concerns raised by genomic research that could affect individuals, their family, and society. However, there are quantitative and qualitative discrepancies in the literature to describe the elements that provide (...) content to the ELSI studies and such problems may result in patient misinformation and harmful choices.MethodsWe analyzed the major international documents published by international organizations to specify the parameters that define ELSI and the recognized criteria for GGT, which may prove useful for researchers, health professionals and policymakers. First, we defined the parameters of the ethical, legal and social fields in GGT to avoid ambiguities when using the acronym ELSI. Then, we selected nine documents from 44 relevant publications by international organizations related to genomic medicine.ResultsWe identified 29 ELSI sub-criteria concerning to GGT, which were organized and grouped within 10 minimum criteria: two from the ethical field, four from the legal field and four from the social field. An additional analysis of the number of appearances of these 29 sub-criteria in the analyzed documents allowed us to order them and to determine 7 priority criteria for starting to evaluate and propose national regulations for GGT.ConclusionsWe propose that the ELSI criteria identified herein could serve as a starting point to formulate national regulation on personalized genomic medicine, ensuring consistency with international bioethical requirements. (shrink)

Genetic counseling is viewed as a therapeutic interrelationship between genetic counselors and their clients. In a previous relational ethics research project, various themes were identified as key components of relational ethics practice grounded in everyday health situations. In this article the relational ethics approach is further explored in the context of genetic counseling to enhance our understanding of how the counselor-client relationship is contextually developed and maintained. Qualitative interviews were conducted with six adult clients undergoing genetic counseling for predictive (...) testing. Engagement, dialogue and presence were revealed as relevant to genetic counselor-client relationships. A relational ethics approach in genetic counseling challenges the concept of nondirectiveness and may enhance the outcome of counseling for both counselor and client. (shrink)

BackgroundThe potential contribution of community engagement to addressing ethical challenges for international biomedical research is well described, but there is relatively little documented experience of community engagement to inform its development in practice. This paper draws on experiences around community engagement and informed consent during a genetic cohort study in Kenya to contribute to understanding the strengths and challenges of community engagement in supporting ethical research practice, focusing on issues of communication, the role of field workers in 'doing ethics' on (...) the ground and the challenges of community consultation.MethodsThe findings are based on action research methods, including analysis of community engagement documentation and the observations of the authors closely involved in their development and implementation. Qualitative and quantitative content analysis has been used for documentation of staff meetings and trainings, a meeting with 24 community leaders, and 40 large public and 70 small community group meetings. Meeting minutes from a purposive sample of six community representative groups have been analysed using a thematic framework approach.ResultsField workers described challenges around misunderstandings about research, perceived pressure for recruitment and challenges in explaining the study. During consultation, leaders expressed support for the study and screening for sickle cell disease. In community meetings, there was a common interpretation of research as medical care. Concerns centred on unfamiliar procedures. After explanations of study procedures to leaders and community members, few questions were asked about export of samples or the archiving of samples for future research.ConclusionsCommunity engagement enabled researchers to take account of staff and community opinions and issues during the study and adapt messages and methods to address emerging ethical challenges. Field workers conducting informed consent faced complex issues and their understanding, attitudes and communication skills were key influences on ethical practice. Community consultation was a challenging concept to put into practice, illustrating the complexity of assessing information needs and levels of deliberation that are appropriate to a given study. (shrink)

The professional and institutional responsibility for handling genetic knowledge is well discussed; less attention has been paid to how lay people and particularly people who are affected by genetic diseases perceive and frame such responsibilities. In this exploratory study we qualitatively examine the attitudes of lay people, patients and relatives of patients in Germany and Israel towards genetic testing. These attitudes are further examined in the national context of Germany and Israel, which represent opposite regulatory approaches and bioethical debates concerning (...) genetic testing. Three major themes of responsibility emerged from the inter-group and cross-cultural comparison: self-responsibility, responsibility for kin, and responsibility of society towards its members. National contrast was apparent in the moral reasoning of lay respondents concerning, for example, the right not to know versus the duty to know (self-responsibility) and the moral conflict concerning informing kin versus the moral duty to inform (responsibility for kin). Attitudes of respondents affected by genetic diseases were, however, rather similar in both countries. We conclude by discussing how moral discourses of responsibility are embedded within cultural (national, religious) as well as phenomenological (being affected) narratives, and the role of public engagement in bioethical discourse. (shrink)

This article discusses the new reproductive technology of egg freezing in the context of existing literature on gender, medicalization, and infertility. What is unique about this technology is its use by women who are not currently infertile but who may anticipate a future diagnosis. This circumstance gives rise to a new ontological category of “anticipated infertility.” The author draws on participant observation and a qualitative analysis of scientific, mainstream, and marketing literature to identify and compare the representation of two (...) different candidates for egg freezing: women with cancer and healthy young women. Although both populations experience anticipated infertility, their dichotomous portrayals as appropriate candidates are demonstrative of gender norms linking women to motherhood. Egg freezing is a concise illustration of how the medicalization of women’s bodies and bodily processes masks a host of cultural anxieties about aging, illness, reproduction, and risk. (shrink)

Background: Individual, comprehensive, and written informed consent is broadly considered an ethical obligation in research involving the sampling of human material. In developing countries, however, local conditions, such as widespread illiteracy, low levels of education, and hierarchical social structures, complicate compliance with these standards. As a result, researchers may modify the consent process to secure participation. To evaluate the ethical status of such modified consent strategies it is necessary to assess the extent to which local practices accord with the values (...) underlying informed consent. Methods: Over a 2-week period in April 2014 we conducted semistructured interviews with researchers from a genetic research institute in rural Pakistan and families who had given blood samples for their research. Interviews with researchers focused on the institute’s requirements for consent, and the researchers’ strategies for and experiences with obtaining consent in the field. Interviews with donors focused on their motivation for donating samples, their experience of consent and donation, and what factors were central in their decisions to give consent. Results: Researchers often reported modifications to consent procedures suited to the local context, standardly employing oral and elder consent, and tailoring information to the social education level of donor families. Central themes in donors’ accounts of their decision to consent were the hope of getting something out of their participation and their remarkably high levels of trust in the researchers. Several donor accounts indicated a degree of confusion about participation and diagnosis, resulting in misconceived expectations of therapeutic benefits. Conclusions: We argue that while building and maintaining trusting relationships in research is important—not least in developing countries—strategies that serve this endeavor should be supplemented with efforts to ensure proper provision and understanding of relevant information, specifically about the nature of research and measures for individual consent and opt-out. (shrink)

The principle of informed consent, codified in the Declaration of Helsinki, has been widely seen as fundamental to bio-medical and research ethics. The importance of informed consent is increasing in procedures regulating the acquisition, possession and use of personal information, including genetic and medical information. Informed consent, it is believed, ensures that patients and research subjects can decide autonomously whether to permit or refuse actions that affect them. In response to this assurance, there are numerous guidelines at local, national and (...) international levels that recognise the importance of informed consent, especially in research related to healthcare in developing countries. However, complications arise in applying these guidelines to a particular situation, especially under conditions that are prevalent in developing societies, for instance in India. This article discusses common forms of impediments or hindrances encountered while exercising the principles of informed consent in the context of genetic and genomics related research among the tribal and rural caste communities in India. These hindrances include: illiteracy, poverty, paternalistic attitudes, socio-cultural barriers, ineffective regulatory mechanism and procedural inconsistency among others. The data used in this article is based on an ethnographic study conducted between December 2006 and May 2007 using social-science qualitative research techniques. We observe that three areas require attention: first, the ways in which informed public debate on bioethical issues can be held, and how the application of genetics and genomics in Indian society can be discussed; second, the readiness with which researchers, IRB members and the state appreciate and wish to map the genetic diversity in Indian society; and, third, the risks associated with the application of bioethical principles at a micro-level. (shrink)

For decades questionnaires have been used to measure the cognitive and psychological effects of prenatal genetic testing, but little is known about why some women undergo testing and others decline. Research indicates that many factors influence decision making, including values and beliefs. What is often denied rather than recognized is that the professional and personal values and beliefs held by the health care provider influence the patient’s decision. It is assumed that, if genetic services are delivered in a nondirective manner, (...) patients will not be affected by the provider’s personal and professional standpoint. The qualitative research data reported here challenge this assumption. Getting to know patients’ moral understanding and patterns of ethical reasoning by listening to their personal stories is recommended as a better way for nurses to help patients to make informed and autonomous decisions about prenatal genetic screening or diagnostic tests. (shrink)

Enhancement of autonomous choice may be considered as an important reason for facilitating the use of genetic tests such as preimplantation genetic diagnosis. The principle of respect for autonomy is a crucial component not only of Western liberal traditions but also of Western bioethics. This is especially so in bioethical discussions and analyses of clinical encounters within medicine. On the basis of an analysis of qualitative research interviews performed with British, Italian and Swedish geneticists and gynaecologists on ethical aspects (...) of preimplantation genetic diagnosis, the plausibility of the notion of autonomy within reproductive medicine is discussed. The analysis of interviews indicates not only that there is a gap between theoretical discussions and concrete practice, but also that an increase in choice — paradoxically — can hamper couples' choice. (shrink)

Mitochondrial replacement techniques, known in the popular media as 'three-parent' or 'three-person' IVFs, have the potential to enable women with mitochondrial diseases to have children who are genetically related to them but without such diseases. In the debate regarding whether MRTs should be made available, an issue that has garnered considerable attention is whether MRTs affect the characteristics of an existing individual or whether they result in the creation of a new individual, given that MRTs involve the genetic manipulation of (...) the germline. In other words, do MRTs affect the qualitative identity or the numerical identity of the resulting child? For instance, a group of panelists on behalf of the UK Human Fertilisation and Embryology Authority has claimed that MRTs affect only the qualitative identity of the resulting child, while the Working Group of the Nuffield Council on Bioethics has argued that MRTs would create a numerically distinct individual. In this article, I shall argue that MRTs do create a new and numerically distinct individual. Since my explanation is different from the NCOB's explanation, I shall also offer reasons why my explanation is preferable to the NCOB's explanation. (shrink)

Reproductive genetic carrier screening provides information about people's chance of having children with certain genetic conditions. Severity of genetic conditions is an important criterion for their inclusion in carrier screening programmes. However, the concept of severity is conceptually complex and underspecified. We analyse why severity is an important concept in carrier screening and for reproductive decision-making and show that assessments of severity can also have normative societal implications. While some genetic conditions are unambiguously associated with a high degree of suffering, (...) there are many factors that contribute to how severe a condition is perceived to be, and perspectives will vary. Attempts to classify genetic conditions according to their severity tend to prioritise biomedical information at the expense of incorporating qualitative aspects of the impact of genetic conditions on people's lives. Further complexity arises because some genotypes can present with variable phenotypes and because some conditions are not always experienced in the same way by all people who have them. To acknowledge this complexity, we argue that an understanding of severity needs to distinguish between the severity of a genetic condition—requiring a generalised approach for purposes of policy development and programme design—and the severity of an instance of a genetic condition in a particular person. Families making reproductive decisions also require access to diverse experiences of the qualitative aspects of living with genetic conditions. As a result, reproductive carrier screening programmes must recognise and respond to the complexity inherent in determining the severity of genetic conditions. (shrink)

As in other areas of medical practice, relatives accompany patients to genetic consultations. However, unlike in other areas, the consultations may be relevant to the relatives’ health because they may be at risk of developing the same genetic condition as the patient. The presence of relatives in genetic consultation may affect the decision‐making process and it raises questions about the perception of patient autonomy and the way it is practiced in genetics. However, these issues have not been examined in (...) previous empirical studies. This article aims to fill this gap by reporting findings from a qualitative study with clinicians working in the area of inherited breast cancer. The findings indicate that family presence has an impact on the patient's decisions to undergo genetic testing and preventative operations when she is diagnosed as a carrier. The findings further indicate that, unlike in other areas of medical practice, blood relatives who are present in consultations are perceived by clinicians as patients or potential patients, and this in turn increases their involvement in discussions in the consultation room. Finally, the findings indicate that in genetics, a relational approach to autonomy is applied. Decisions are made in a social context, where the relatives’ views are heard and taken into account. The findings suggest that the conventional bioethical approach to autonomy, which perceives the decision‐making unit as comprising a clinician and an individual patient, is challenged in genetics. The findings thus suggest that bioethicists, lawyers and policy‐makers should consider whether this individualistic approach is still valid and applicable. (shrink)

Research Ethics, Volume 18, Issue 4, Page 265-280, October 2022. Concerns around comprehension and recall of consent information by research participants have typically been associated with low health and research literacy levels. In genomics research, this concern is heightened as the scientific and ethical complexities of genetics research, such as biobanking, genetic susceptibility, data sharing, and incidental findings may be more difficult for potential research participants to understand. However, challenges to research participants’ comprehension of consent information may be compounded (...) by factors beyond health and research literacy levels. To identify factors that may impact research participants’ understanding and recall of consent information, we designed a qualitative study to explore whether participants enrolled in a tuberculosis genetics study in Cameroon understood the objectives of the study, the risks and benefits and certain key aspects of the study such as biobanking and data sharing. The results showed that research participants had limited understanding and/or recall of the TBGEN-Africa study goals and methods. Some participants were of the opinion that TBGEN-Africa was not a genetics study because tuberculosis is not an inheritable condition. Factors that may have hindered understanding and/or recall of study information are diagnostic misconception, and information overload and situational vulnerability. There is a need for improved practices to support research participants’ understanding of consent information in genetics studies including designing the consent process in ways that minimize psychological distress and diagnostic/therapeutic misconception. (shrink)

With pre-implantation genetic diagnosis (PGD), genetic testing and selective transfer of embryos is possible. In the future, germ-line gene therapy (GLGT) applied to embryos before implantation, in order to introduce missing genes or replace mutant ones, may be possible. The objective of this dissertation is to analyse moral aspects of these technologies, as described by eighteen British, Italian and Swedish gynaecologists and geneticists. The objective is systematised into three parts: research interviews and qualitative analysis, philosophical analysis, and elaboration of (...) a framework that supports the combination of analytic methods. PGD was described as positive since it enabled some couples at risk for a genetic disease to have a child without the disease. PGD was described as in different senses ‘better’ than methods for prenatal diagnosis and selective termination of pregnancy. It was also described as positive since it provided couples at risk with one more option, even if it did not result in the birth of a healthy child. However, interviewees were concerned about the difficulty of defining and evaluating genetic disease. They were also concerned about patients’ choices, and about exaggerated use or misuse. Whereas PGD gave rise to ambivalence in terms of how to understand, describe and evaluate it, GLGT was often described as unrealistic or undesirable. The results of the qualitative analysis are used in a philosophical analysis of the concepts of choice, autonomous choice, ambivalence, trust and ambivalence in trust relations. A set of distinct characteristics of each concept are elaborated. The results of the philosophical analysis are used in the discussion of the results of the qualitative analysis. The study shows that the technologies imply both ‘new’ ways to perform ‘old’ medical practices and ‘new’ practices. Old moral questions are reformulated. New moral questions are added. Against the background of this, the concept of genetic identity is discussed. Key words: empirical ethics, pre-implantation genetic diagnosis, germ-line gene therapy, qualitative research, philosophical analysis, medical progress, genetic disease, choice, autonomous choice, ambivalence, trust, genetic identity. (shrink)

This article is based on a qualitative empirical project about a distinct kinship group who were among the first identified internationally as having a genetic susceptibility to cancer. 50 were invited to participate. 15, who had all accepted testing, were interviewed. They form a unique case study. This study aimed to explore interviewees’ experiences of genetic testing and how these influenced their family relationships. A key finding was that participants framed the decision to be tested as ‘common sense’; the (...) idea of choice around the decision was negated and replaced by a moral imperative to be tested. Those who did not follow ‘common sense’ were judged to be imprudent. Family members who declined testing were discussed negatively by participants. The article addresses what is ethically problematic about how test decliners were discussed and whether these ethical concerns extend to others who are offered genetic testing. Discussions showed that genetic testing was viewed as both an autonomous choice and a responsibility. Yet the apparent conflict between the right to autonomy and the moral imperative of responsibility allowed participants to defend test decliners’ decisions by expressing a preference for or defending choice over responsibility. The ‘right not to know’ seemed an important moral construct to help ethically manage unpopular decisions made by close family who declined testing. In light of this research, the erosion of the ‘right not to know’ in the genomic age could have subtle yet profound consequences for family relationships. (shrink)

Design: Qualitative interview study. Participants: Fifty-nine patients with a family history of cancer who attend a regional cancer genetics clinic in the UK were interviewed about their current and previous research experiences. Findings: Interviewees gave a range of explanations for research participation. These were categorised as social—research participation benefits the wider society by progressing science and improving treatment for everyone; familial—research participation may improve healthcare and benefit current or future generations of the participant’s family; and personal—research participation provides (...) therapeutic or non-therapeutic benefits for oneself. Conclusions: We discuss the distinction drawn between motives for research participation focused upon self and others, and observe that personal, social and familial motives can be seen as interdependent. For example, research participation that is undertaken to benefit others, particularly relatives, may also offer a number of personal benefits for self, such as enabling participants to feel that they have discharged their social or familial obligations. We argue for the need to move away from simple, static, individualised notions of research participation to a more complex, dynamic and inherently social account. (shrink)

The beanbag genetics controversy can be traced from the dispute between Fisher and Wright, through Mayr''s influential promotion of the issue, to the contemporary units of selection debate. It centers on the claim that genic models of natural selection break down in the face of epistatic interactions among genes during phenotypic development. This claim is explored from both a conceptual and a quantitative point of view, and is shown to be defective on both counts.Firstly, an analysis of the controversy''s (...) theoretical origins demonstrates that this claim derives from a misinterpretation of the conceptual foundations of Fisher''s genetical theory of natural selection, and confounds his fundamentally different concepts of the average excess and average effect of a gene. Secondly, an extension of the genic approach is proposed which models the dynamics of selection among epistatically interacting complexes of many genes. Paradoxically, this preliminary, but fundamentally genic model provides quantitative support for some controversial qualitative claims regarding the evolutionary consequences of strong gene interactions made by opponents of genic selectionism, including Mayr''s theory of peripartric speciation. These findings foster hope that the proposed approach may eventually nudge the beanbag controversy out of its conceptual trenches into a more empirically oriented dialogue. (shrink)

BackgroundA key ethical question in genomics research relates to whether individual genetic research results should be disclosed to research participants and if so, which results are to be disclosed, by whom and when. Whilst this issue has received only scarce attention in African bioethics discourse, the extension of genomics research to the African continent has brought it into sharp focus.MethodsIn this qualitative study, we examined the views of adolescents, parents and caregivers participating in a paediatric and adolescent HIV-TB genomic (...) study in Botswana on how solidarity and reciprocity obligations could guide decisions about feedback of individual genetic research results. Data were collected using deliberative focus group discussions and in-depth interviews.ResultsFindings from 93 participants demonstrated the importance of considering solidarity and reciprocity obligations in decisions about the return of individual genetic research results to participants. Participants viewed research participation as a mutual relationship and expressed that return of research results would be one way in which research participation could be reciprocated. They noted that when reciprocity obligations are respected, participants feel valued and not respecting reciprocity expectations could undermine participant trust and participation in future studies.ConclusionsWe conclude that expectations of solidarity and reciprocity could translate into an obligation to feedback selected individual genetic research results in African genomics research. (shrink)

Epidemiologists and geneticists claim that genetics has an increasing role to play in public health policies and programs in the future. Within this perspective, genetic testing and screening are instrumental in avoiding the birth of children with serious, costly or untreatable disorders. This paper discusses genetic testing and screening within the framework of eugenics in the health care context of India. Observations are based on literature review and empirical research using qualitative methods. I distinguish ‘private’ from ‘public’ eugenics. (...) I refer to the practice of prenatal diagnosis as an aspect of private eugenics, when the initiative to test comes from the pregnant woman herself. Public eugenics involves testing initiated by the state or medical profession through (more or less) obligatory testing programmes. To illustrate these concepts I discuss the management of thalassaemia, which I see as an example of private eugenics that is moving into the sphere of public eugenics. I then discuss the recently launched newborn screening programme as an example of public eugenics. I use Foucault’s concepts of power and governmentality to explore the thin line separating individual choice and overt or covert coercion, and between private and public eugenics. We can expect that the use of genetic testing technology will have serious and far-reaching implications for cultural perceptions regarding health and disease and women’s experience of pregnancy, besides creating new ethical dilemmas and new professional and parental responsibilities. Therefore, culturally sensitive health literacy programmes to empower the public and sensitise professionals need attention. (shrink)

Genetic research aimed at understanding human health and disease is grounded in the study of genetic variation. The inclusion of research subjects with diverse ancestral backgrounds is essential for genetic and genomic research that fully explores human diversity. Large-scale cohort studies and biobanks in Europe and the United States often do not include the breadth of ethnic and racial diversity observed in their countries' citizens. This article explores the findings of a qualitative study of U.S. scientists' understanding and views (...) of the NIH Policy and Guidelines on the Inclusion of Minorities as Subjects in Clinical Research. The findings suggest that the policy restricts how scientists use racial and ethnic categories to define and report their study populations and does little to motivate their efforts to increase the inclusion of non-European ancestral populations in genetic and genomic research. (shrink)

BackgroundGene drive technologies (GDTs) promote the rapid spread of a particular genetic element within a population of non-human organisms. Potential applications of GDTs include the control of insect vectors, invasive species and agricultural pests. Whether, and if so, under what conditions, GDTs should be deployed is hotly debated. Although broad stances in this debate have been described, the convictions that inform the moral views of the experts shaping these technologies and related policies have not been examined in depth in the (...) academic literature.MethodsIn this qualitative study, we interviewed GDT experts (n = 33) from different disciplines to identify and better understand their moral views regarding these technologies. The pseudonymized transcripts were analyzed thematically.ResultsThe respondents’ moral views were principally influenced by their attitudes towards (1) the uncertainty related to GDTs; (2) the alternatives to which they should be compared; and (3) the role humans should have in nature. Respondents agreed there is epistemic uncertainty related to GDTs, identified similar knowledge gaps, and stressed the importance of realistic expectations in discussions on GDTs. They disagreed about whether uncertainty provides a rationale to refrain from field trials (‘risks of intervention’ stance) or to proceed with phased testing to obtain more knowledge given the harms of the status quo (‘risks of non-intervention’ stance). With regards to alternatives to tackle vector-borne diseases, invasive species and agricultural pests, respondents disagreed about which alternatives should be considered (un)feasible and (in)sufficiently explored: conventional strategies (‘downstream solutions’ stance) or systematic changes to health care, political and agricultural systems (‘upstream solutions’ stance). Finally, respondents held different views on nature and whether the use of GDTs is compatible with humans’ role in nature (‘interference’ stance) or not (‘non-interference stance’).ConclusionsThis interview study helps to disentangle the debate on GDTs by providing a better understanding of the moral views of GDT experts. The obtained insights provide valuable stepping-stones for a constructive debate about underlying value conflicts and call attention to topics that deserve further (normative) reflection. Further evaluation of these issues can facilitate the debate on and responsible development of GDTs. (shrink)

In the beginning, policy debates between critics and advocates of genetically modified (GM) crops focused on scientifically determined risks. Ten years later, the argument between environmentalists or consumers and regulators or industry has changed into a discussion about the implementation of more democratic policymaking about GM farming. A notable omission from the political debate about food biotechnology in the United States, however, is the opinion of farmers who cultivate the GM crops. Policymakers should value practical knowledge based on experiences from (...) farmers, not only scientific industry reports or consumer product opinions. This project uses in-depth interviews to create an original mail survey that uses the practical discourse of farmers in order to explore the relationship of farmer attitudes and GM agriculture. Although national research indicates that larger yields are the most common reason for GM adoption, qualitative information suggest that the potential of GM crops to increase revenue per acre does not truly reflect all the concerns of modern farmers. For example, farmers who use GM seeds indicate that they constantly question the social impacts of their agricultural practices. As such, GM policies should be restructured as a political rationalization of both economic modeling and political theory because this research suggests that farmers’ business decisions are utility calucations that consider economics without ignoring environmental and political contexts. Farmers’ concerns about non-economic risks suggest that they need more information about GM crops and that governmental policies should respond to their interests, as they are more democratic or pluralistic than industry or consumer arguments. (shrink)

Background Prenatal genetic testing, in particular non-invasive prenatal testing (NIPT), as well as screening for risks associated with pregnancy, and counseling, play pivotal roles in reproductive healthcare, offering valuable information about the health of the fetus to expectant parents. This study aims to delve into the perspectives and experiences of women considering genetic testing and screening during pregnancy, focusing on their decision-making processes and the implications for informed consent. Methods A nationwide qualitative study was conducted in Switzerland, involving in-depth (...) interviews with women who were 1 to 2 years post-partum, covered by basic compulsory Swiss insurance, including women with a migration background. Thematic analysis was employed to identify key themes and patterns in the data. Results The findings underscore the significance of effective communication during prenatal counseling, suggesting that healthcare providers could not only convey technical information but also support women in their decision-making processes. Women need comprehensive information about genetic testing and its implications, as well as the reasons for screening during pregnancy, as there might be a need to bridge knowledge gaps and clarify misconceptions. Furthermore, the study highlights the multifaceted nature of decision-making, with women considering factors such as uncertainty, values, emotional responses, and societal support systems. The concept of acceptance emerged as a crucial theme, with some women expressing their readiness to love and accept their child, regardless of genetic anomalies or disabilities. Conclusion This study offers valuable insights into the perspectives and needs of women regarding prenatal genetic testing, screening, and counseling in Switzerland. It underscores the importance of enhancing the clinical interaction and informed consent process by providing comprehensive information, addressing misconceptions, and supporting women in decision-making about pregnancy management and the management of the child’s health, following prenatal genetic testing, including NIPT. These findings can inform healthcare providers and policymakers in improving the quality of prenatal counseling, ensuring informed consent, and supporting women in making well-informed and meaningful decisions about genetic testing, and on the use of screening during pregnancy. (shrink)

In this paper I explicate a technique which can be used to make subtle relational features of experience more evident to awareness. Results of this method could be employed to diffuse one intuition that drives the common critique of functionalist-information theoretic accounts of mind that "qualia" cannot be exhaustively characterized in information theoretic-functional terms. An intuition that commonly grounds this critique is that the qualitative aspects of experience do not entirely appear in consciousness as informational-functional structures. The first section (...) of the paper is a schematic overview of nature of the qualitative and the problem that qualia are taken to create for information theoretic-functionalist theories of mind. §2 contains a précis of the concept of different levels of functional scale in mental activity that was developed by Armstrong and the Churchlands and that is needed to interpret (possible) results of the proposed experiment. In §3, I outline a method whereby analogies would be generated between purely relational forms, structures, configurations, etc. and purely qualitative aspects of experience. These analogies would be created by subjects through forced choice selection of presented images of structures that "most resembled" a pure quality. Repeated choices would then be shaped by a genetic program into the structural configuration that "most resembled" the pure quality. The final section of the paper explores how consistent, reliable results from the experiment would make information-theoretic functionalism more intuitively plausible in spite of the "fact" that the qualitative aspects of experience do not immediately appear as entirely relational/structural. (shrink)

The purpose of this study was to explore the views of members of the general public regarding ethical issues in adult predictive genetic testing. The literature pertaining to ethical issues regarding to adult predictive genetic testing is largely restricted to the views of ‘experts’ who have emphasized informed consent, patent issues, and insurance discrimination. Occasionally the views of patients who have undergone genetic counselling and testing have been elicited, adding psychosocial and family issues. However, the general public has not had (...) the opportunity to contribute. In order to explore theatre as a health policy research tool, 1,200 audience members attended the play ‘Sarah’s Daughters’ in seven Canadian cities, following which audience discussions were audiotaped. This study performed a secondary qualitative analysis of the data to identify the ethical issues of adult predictive genetic testing important to members of the general public. The identified issues were: (1) need for public education; (2) choice to undergo genetic counselling and testing; (3) access to genetic counselling and testing; and (4) obligations regarding the handling of genetic information. Audience members emphasized public education and access to information regarding potential choices, which was different from the emphasis on informed consent and other ethical issues prominent in the literature. Members of the general public emphasized ethical issues that were different than those identified by experts and patients. It is essential that members of the public be included in complex and controversial public policy decisions. (shrink)

Background Debates on the use of race in biomedical research have typically overlooked immigrant groups outside of the black-white racial dichotomy. Recent biomedical research on South Asians and cardiovascular disease provides an opportunity to understand how scientists define race and interpret racial health disparities from an underexamined perspective. Purpose To examine how researchers in the Mediators of Atherosclerosis in South Asians Living in America (MASALA) study defined a South Asian population, and then compared health differences between South Asians and other (...) populations. Methods Qualitative content analysis was performed on eleven articles from August 2013 to January 2021 that directly compared the South Asian cohort in MASALA to four other groups. The MASALA study design article was also included in this analysis. Articles were analysed for how South Asians were defined, and for how health differences between South Asians and other populations were studied and discussed. Results Researchers in MASALA were neither clear nor precise in defining South Asians as either an ancestral group or ethnic group. Their studies also prioritised investigating genetic and molecular causes of the cardiovascular health disparity between South Asians and other populations and failed to examine possible social factors. Conclusions These findings reflect a broader trend in biomedical research in which race and racial health disparities are poorly defined and studied, limiting scientists’ understanding of the relationship between race and health. I propose methodologies to help researchers define populations and design studies without relying on biologically reductive assumptions. (shrink)

BackgroundA fundamental ethical challenge in conducting genomics research is the question of what and how individual level genetic findings and aggregate genomic results should be conveyed to research participants and communities. This is within the context of minimal guidance, policies, and experiences, particularly in Africa. The aim of this study was to explore the perspectives of key stakeholders' on returning genomics research results to participants in Kenya.MethodsThis qualitative study involved focus group discussions (FGDs) and in-depth interviews (IDIs) with 69 (...) stakeholders. The purposively selected participants, included research ethics committee (REC) members (8), community members (44), community resource persons (8), and researchers (9). A semi-structured interview guide was used to facilitate discussions. Six FGDs and twenty-five (IDIs) were conducted among the different stakeholders. The issues explored in the interviews included: (1) views on returning results, (2) kind of results to be returned, (3) value of returning results to participants, and (4) challenges anticipated in returning results to participants and communities. The interviews were audio-recorded, transcribed verbatim, and coded in Nvivo 12 pro. Thematic and content analysis was conducted.ResultsParticipants agreed on the importance of returning genomic results either as individual or aggregate results. The most cited reasons for returning of genomic results included recognizing participants' contribution to research, encouraging participation in future research, and increasing the awareness of scientific progress. Other aspects on how genomic research results should be shared included sharing easy to understand results in the shortest time possible and maintaining confidentiality when sharing sensitive results.ConclusionsThis study identified key stakeholders’ perspectives on returning genomic results at the individual and community levels in two urban informal settlements of Nairobi. The majority of the participants expect to receive feedback about their genomic results, and it is an obligation for researchers to see how to best fulfil it. (shrink)

BackgroundThe clinical introduction of non-invasive prenatal testing for fetal aneuploidies is currently transforming the landscape of prenatal screening in many countries. Since it is noninvasive, safe and allows the early detection of abnormalities, NIPT expanded rapidly and the test is currently commercially available in most of the world. As NIPT is being introduced globally, its clinical implementation should consider various challenges, including the role of the surrounding social and cultural contexts. We conducted a qualitative study with healthcare professionals in (...) Lebanon and Quebec as case studies, to highlight the relevance of cultural contexts and to explore the concerns that should be taken into account for an ethical implementation of NIPT.MethodsWe conducted semi-structured interviews with 20 healthcare professionals (HCPs), 10 from each country, practicing in the field of prenatal screening and follow up diagnostic testing, including obstetricians and gynecologists, nurses, medical geneticists and, genetic counselors. We aimed to 1) explore HCPs’ perceptions and views regarding issues raised by NIPT and 2) to shed light on ways in which the introduction of the same technology (NIPT) in two different contexts (Lebanon and Quebec) raises common and different challenges that are influenced by the cultural norms and legal policies in place.ResultsWe identified challenges to the ethical implementation of NIPT. Some are common to both contexts, including financial/economic, social, and organizational/ educational challenges. Others are specific to each context. For example, challenges for Lebanon include abortion policy and financial profit, and in Quebec challenges include lobbying by Disability rights associations and geographical access to NIPT.ConclusionsOur findings highlight the need to consider specific issues related to various cultural contexts when developing frameworks that can guide an ethically sound implementation of NIPT. Further, they show that healthcare professional education and training remain paramount in order to provide NIPT counseling in a way that supports pregnant women and couples’ choice. (shrink)