Experiences of Genetic Risk: Disclosure and the Gendering of Responsibility

The question of ‘who owns genetic information‘ is increasingly a focus of ethical inquiry. Applied to predictive testing, several recent critiques suggest that persons with a genetic disorder have a moral duty to disclose that information to other family members. The justification for this obligation is that genetic information belongs to and may benefit not only a single individual, but also members of a biological kinship. This paper considers this issue from a different vantage point: How does gender intersect with the moral duty to disclose genetic information? Scholars have argued that gender is partly comprised of distinct assignments and assumptions of responsibility. Thus, there is a danger that gendered patterns of socialization will make women feel that they should take primary responsibility for disclosing genetic information to others. This article explores issues of responsibility and disclosure of risk information by drawing on an empirical study of women and men who have undergone genetic testing for hereditary breast/ovarian cancer. The research study suggests that disclosure of genetic information is a gendered activity, with both the benefits and burdens of this task falling primarily on women. It also illustrates that when disclosure is understood contextually, it is a far more complicated matter than when viewed through a theoretical lens. The article considers the relevance of these findings on ethical debate and genetic counselling practices.     

Disclosure of Huntington's disease to family members: the dilemma of known but unknowing parties

Predictive genetic testing presents unique issues in the legal and ethical debate concerning disclosure of information within the physician-patient relationship. A duty to disclose information to family members has been found when the disclosure is likely to result in the ability to mitigate the damaging effects of the disease. When evaluating the situation where a individual is at risk of Huntington's disease, the analysis must be different, as shown in this paper, and necessitates an ethical and legal examination of the consequences of receipt of the information on family members, those known but unknowing parties who are at risk of inheriting a genetic disease. This paper analyzes the potential legal duty of a physician to disclose or withhold genetic information from the family members of patients. Existing statutes governing genetic information do not directly address the interests of family members. Courts that have ruled on the duty to disclose medical or genetic information have analyzed these issues using traditional concepts of tort law. Yet the situation presented by Huntington's disease is unique and demands a different framework for analysis, given the late onset and lack of curative or ameliorative treatment. This paper also analyzes the ethical standards to be invoked when considering violating the privacy of a patient or a family member. The principles of autonomy and self-determination of family members are considered, versus the risk of harm and the privacy interest in not knowing potentially devastating information.     

Whakapapa – A Foundation for Genetic Research?

Whakapapa is the foundation of traditional Māori social structure and it perpetuates a value base that locates people through their relationships to the physical and spiritual worlds. As part of a new envirogenomics research programme, researchers at the Institute of Environmental Science and Research (ESR) are developing a study with an iwi (tribe) to identify combinations of genetic and environmental factors that may contribute to current health status. A major objective of this study is to utilise whakapapa (genealogical information) to explore patterns of genetic variation unique to the iwi and to correlate these with potential disease or ill health. Genetic testing and screening raises numerous ethical issues, particularly when indigenous peoples are the subjects. This paper will outline ESR’s strategy for addressing indigenous concerns about genetic testing and how whakapapa forms an integral part of the envirogenomics research programme.     

The challenge of including social and ethical aspects in the development of nanobiotechnology

Nanotechnology as an enabling technology for many future medical applications touches on issues such as sensitivity of genetic information, the gap between diagnosis and therapy, health care resources and tensions between holistic and functional medicine. On the other hand nanotechnology will add a new dimension to the bio (human) and non-bio (machine) interface such as brain chips or implants, which eventually might raise new ethical issues specific to NanoMedicine. This requires careful analysis of ethical aspect in view of existing standards and regulations by ethics committees at the European scale. At the same time new nanomedical inventions have to be evaluated for new ethical aspects by Ethical, Legal and Social Aspects — specialists. The most crucial point in this regard is an early proactive analysis of new technological developments to identify and discuss possible issues as soon as possible. This requires a close collaboration and co-learning of technology developers and ethics specialists assisted by communication experts to ensure open and efficient information of the public about ethical aspects (old or new) related to nanomedicine. This co-evolution will ensure a socially and ethically accepted development of innovative diagnostic and therapeutic tools in NanoMedicine.     

Looking back, looking beyond: revisiting the ethics of genome generation

This paper will explore some of the ethical imperatives that have shaped strategic and policy frameworks for the use of new genetic technologies and how these play a role in shaping the nature of research and changing attitudes; with an attempt to conceptualize some theories of genetic determinism. I analyse why there is a need to put bioethical principles within a theoretical framework in the context of new technologies, and how, by doing so, their practical applications for agriculture, environment medicine and health care can be legitimized. There are several theories in favour of and against the use of genetic technologies that focus on genes and their role in our existence. In particular the theory of geneticisation is commonly debated. It highlights the conflicting interests of science, society and industry in harnessing genetic knowledge when the use of such knowledge could challenge ethical principles. Critics call it a ‘reductionist’ approach, based on arguments that are narrowed down to genes, often ignoring other factors including biological, social and moral ones. A parallel theory is that there is something special about genes, and it is this “genetic exceptionalism” that creates hopes and myths. Either way, the challenging task is to develop a common ground for understanding the importance of ethical sensitivities. As research agendas become more complex, ethical paradigms will need to be more influential. New principles are needed to answer the complexities of ethical issues as complex technologies develop. This paper reflects on global ethical principles and the tensions between ethical principles in legitimizing genetic technologies at the social and governance level.     

How Distinctive is Genetic Information?

There is extensive discussion of the ethical, social, economic and political issues associated with the use of technologies based on DNA techniques. Many of these debates are premised on the assumption that DNA, and the genetic information that may be derived from it, have unique features which raise new social and ethical issues. In this paper it is argued that several of the features associated with DNA which are sometimes regarded as unique are shared with other biological materials. Others owe more to the cultural image of DNA and some of the metaphors used to discuss it in biology and in wider debates than to the biological properties of DNA. The paper discusses the concepts of genetic material and genetic information and the social construction of DNA in relation to forensic DNA databases, paternity testing and genetic testing for disease. The paper concludes by suggesting that there are seven areas where issues related to DNA and genetic information are at least relatively distinct.     

The Disclosure of Genetic Information: A Human Research Ethics Perspective

Increasing emphasis on genetic research means that growing numbers of human research projects in Australia will involve complex issues related to genetic privacy, familial information and genetic epidemiology. The Office of Population Health Genomics (Department of Health, Western Australia) hosted an interactive workshop to explore the ethical issues involved in the disclosure of genetic information, where researchers and members of human research ethics committees (HRECs) were asked to consider several case studies from an ethical perspective. Workshop participants used a variety of approaches to examine the complex ethical issues encountered, but did not consistently refer to the values and principles outlined in the National Statement on Ethical Conduct in Human Research (NHMRC 2007) or apply rational ethical approaches. Overall, the data suggested that both researchers and HREC members may benefit from further education and support regarding the application of ethical frameworks to the issues encountered in genetic research.     

Population biobanks and returning individual research results: mission impossible or new directions?

Historically, large-scale longitudinal genomic research studies have not returned individual research results to their participants, as these studies are not intended to find clinically significant information for individuals, but to produce ‘generalisable’ knowledge for future research. However, this stance is now changing. Commentators now argue that there is an ethical imperative to return clinically significant results and individuals are now expressing a desire to have them. This shift reflects societal changes, such as the rise of social networking and an increased desire to participate in medical decision-making, as well as a greater awareness of genetic information and the increasing ability of clinicians to use this information in health care treatment. This paper will discuss the changes that have prompted genomic research studies to reconsider their position and presents examples of projects that are actively engaged in returning individual research results.     

Managing ethical challenges around misattributed parentage within the clinical context: Insights from an African moral theory

This study argues the thesis that a set of guidelines ‐ firmly rooted in a particular interpretation of African moral theory, specifically, Ubuntu – will do a better job than current medical ethics frameworks, in addressing ethical challenges around misattributed parentage within the clinical context. Incidental information such as information with significant personal/health implications raises unique challenges for medical professionals. For example, withholding information of misattributed paternity accidentally discovered in clinical interactions may be seen by a patient as a violation of his/her right‐to‐know. Contrarily, disclosure where a patient has not requested information – or where establishing paternity is not the purpose of clinical visit/interaction – may be taken by the patient as a violation of his/her right ‘not‐to‐know’. Resolving these challenges remain a herculean task. African moral theory contains an under‐emphasized value for addressing such ethical challenges around misattributed parentage in the field of transplant. I seek to contribute this knowledge; and enhance clinician‐patient relationship. This study builds off three completed systematic reviews, which aimed to answer the following questions: “what are the ethical challenges regarding information health professionals face within the clinical contest?” and “what core aspects (or common themes) of Ubuntu can be identified in existing literature describing the same?” In this present study, I applied the definition of Ubuntu which captures the core aspects of the theory in ethical literature on the same, to address ethical issues around unsought information of misattributed parentage in the field of transplant.     

Ethics of human genetic studies in sub-saharan Africa: the case of Cameroon through a bibliometric analysis

Many ethical concerns surrounding human genetics studies remain unresolved. We report here the situation in Cameroon. Objectives: To describe the profile of human genetic studies that used Cameroonian DNA samples, with specific focus on i) the research centres that were involved, ii) authorship, iii) population studied, iv) research topics and v) ethics disclosure, with the aim of raising ethical issues that emerged from these studies. Method: Bibliometric Studies; we conducted a PubMed-based systematic review of all the studies on human genetics that used Cameroonian DNA samples from 1989 to 2009. Results and Discussion: Fifty articles were identified, involving predominantly research centres from Europe (64%) and America (32%). Only 7 (14%) Cameroonian institutions and 14 (28%) Cameroonian authors were associated with these publications. At least 52% of publications were devoted to population genetics (variation/migration patterns) amongst 30 Cameroonian ethnic groups. Very few studies concerned public health related genetic issues and only 5 (10%) references were found for hemoglobinopathies like sickle cell anaemia. Almost all DNA samples are 'banked' outside of the African continent. Capacity building, rights to the genetic information and benefits to the individuals, communities and populations who contribute to these studies are addressed. Conclusions: 1) Our data suggests the need for a wider debate towards building capacity and addressing ethical issues related to human genomic research in sub-Saharan Africa and specifically in Cameroon; 2) National ethical guidelines and regulations concerning the collection, use and storage of human DNA are urgently needed in Cameroon.     

Getting a head start: the importance of personal genetics education in high schools

With advances in sequencing technology, widespread and affordable genome sequencing will soon be a reality. However, studies suggest that "genetic literacy" of the general public is inadequate to prepare our society for this unprecedented access to our genetic information. As the current generation of high school students will come of age in an era when personal genetic information is increasingly utilized in health care, it is of vital importance to ensure these students understand the genetic concepts necessary to make informed medical decisions. These concepts include not only basic scientific knowledge, but also considerations of the ethical, legal, and social issues that will arise in the age of personal genomics. In this article, we review the current state of genetics education, highlight issues that we believe need to be addressed in a comprehensive genetics education curriculum, and describe our education efforts at the Harvard Medical School-based Personal Genetics Education Project.     

Closure of population biobanks and direct-to-consumer genetic testing companies

Genetic research gained new momentum with the completion of the Human Genome Project in 2003. Formerly centered on the investigation of single-gene disorders, genetic research is increasingly targeting common complex diseases and in doing so is studying the whole genome, the environment and its impact on genomic variation. Consequently, biobanking initiatives have emerged around the world as a tool to sustain such progress. Whether they are small scale or longitudinal, public or private, commercial or non-commercial, biobanks should consider the possibility of closure. Interestingly, while raising important ethical issues, this topic has hardly been explored in the literature. Indeed, ethical issues associated with sale, insolvency, end of funding, or transfer of materials to other entities (which are all issues either related to or possible consequences of closure) are seldom the subject of discussion. In an attempt to fill this gap, this paper will discuss—using population and direct-to-consumer (DTC) genetic testing companies’ biobanks as case studies—(1) international and national normative documents addressing the issue of closure and (2) the internal policies of population biobanks and DTC genetic testing companies. The analysis will inform the debate on biobank closure and elucidate the underlying ethical issues, which include, but are not limited to informed consent, storage and privacy.     

Rationale for an integrated approach to genetic epidemiology

Conclusion: Genetic knowledge is now in the public domain and its interpretation by the media and the citizens brings the issues into the public forum of discussion for the necessary ethical, legal and socio-cultural evaluation of its application. Science is being perceived by some as dangerous and as requiring international regulation. Others feel that genetic knowledge will be the breakthrough that will permit medical progress and individual autonomy with regards to personal health and lifestyle choices. The mapping of the human genome has already yielded valuable information on an increasing number of diseases and their variants. Prevailing popular and journalistic archetypes ("imaginaires") used in the media are perceived by the producers as slowing down the possible application of genetic knowledge. The answers to these dilemmas are not readily apparent nor are they prescribed by classical philosophy of medicine. Since genetic knowledge eventually resides with the individual who carries the genes of disease and/or susceptibility, a logical approach to integration of this knowledge at a societal level would seem to reside with individual education and decision-making. The politics of the ensuing social debate could transform the current social contract since an individual's interests need to be balanced against those of his or her immediate family in the sharing of information. The ethical foundations of such a contract requires the genetic education of "Everyone" as a matter of urgent priority. Genetic education should not serve ideological power struggles between the medical establishment and the ethical-legal alliance. Instead, it should ensure the transfer of knowledge to physicians, to patients, to users, to planners, to social science and humanities researchers and to politicians, so that they may make "informed" and free decisions....     

Guilt, fear, stigma and knowledge gaps: ethical issues in public health communication interventions

Public health communication campaigns have been credited with helping raise awareness of risk from chronic illness and new infectious diseases and with helping promote the adoption of recommended treatment regimens. Yet many aspects of public health communication interventions have escaped the scrutiny of ethical discussions. With the transference of successful commercial marketing communication tactics to the realm of public health, consideration of ethical issues becomes an essential component in the development and application of public health strategies. Ethical issues in public health communication are explored as they relate to eight topics: 'targeting' and 'tailoring' public health messages to particular population segments; obtaining the equivalence of informed consent; the use of persuasive communication tactics; messages on responsibility and culpability; messages that apply to harm reduction; and three types of unintended adverse effects associated with public health communication activities that may label and stigmatise, expand social gaps, and promote health as a value. We suggest that an ethical analysis should be applied to each phase of the public health communication process in order to identify ethical dilemmas that may appear subtle, yet reflect important concerns regarding potential effects of public health communication interventions on individuals and society as a whole.     

Society and ethics - the genetics of disease

Established guidance for the protection of human subjects in research has provided the framework for research and clinical practice in genetics. Three key principles to emerge are the requirements for consent, privacy and confidentiality. However, recent research on genetic susceptibility to common diseases indicates that it may be more difficult to decide if and when genetic testing will be appropriate. Risks of disease may be low and interventions may not be available. Today, debate is primarily focussed on ethical issues raised by the use and storage of genetic information. One of the earliest experiences of genetic testing for some people is likely to be in the area of pharmacogenetics. Debate about ethical issues has been focused on the implications of patient stratification, particularly with regard to the availability of medicines for small groups and the significance of racial variation in response to medicines. The possible use of personal genetic information by insurance companies and employers has also been an issue that legislators have taken seriously.     

Ethical Issues in Adolescents' Sexual and Reproductive Health Research in Nigeria

There is increasing interest in the need to address the ethical dilemmas related to the engagement of adolescents in sexual and reproductive health (SRH) research. Research projects, including those that address issues related to STIs and HIV, adverse pregnancy outcomes, violence, and mental health, must be designed and implemented to address the needs of adolescents. Decisions on when an individual has adequate capacity to give consent for research most commonly use age as a surrogate rather than directly assessing capacity to understand the issues and make an informed decision on whether to participate in research or not. There is a perception that adolescents participating in research are more likely to be coerced and may therefore not fully comprehend the risk they may be taking when engaging in research. This paper examines the various ethical issues that may impact stakeholders' decision making when considering engaging adolescents in SRH research in Nigeria. It makes a case for lowering the age of consent for adolescents. While some experts believe it is possible to extrapolate relevant information from adult research, studies on ethical aspects of adolescents' participation in research are still needed, especially in the field of sexual and reproductive health where there are often differences in knowledge, attitudes and practices compared to adults. The particular challenges of applying the fundamental principles of research ethics to adolescent research, especially research about sex and sexuality, will only become clear if more studies are conducted.     

Ethical issues raised by personalized nutrition based on genetic information

Four principles are taken as basis for the ethical analysis: autonomy, nonmaleficence, beneficence, and justice. Health is understood as a limited aspect of wellbeing. Food is understood as an important aspect of wellbeing, not only an instrument for health. Modern society is characterized by a tendency to identify wellbeing with external rather than subjective circumstances, to identify wellbeing with health, and to create exaggerated health expectations. Based upon this understanding, aspects of personalized nutrition are discussed: genetic testing, counselling, and development of special dietary products. Today the predictive value of genetic tests for personal nutrition is limited, and experimental at best. Recommendations for the future: Personalized nutrition must be based on solid knowledge. Phenotypic analyses should be used when adequate. When a genetic test can have a clear advantage, this should be preferred. Opportunistic screening should only be used when clearly beneficial. Specially trained persons should collect information from genetic tests and carry through councelling on a personal basis. Marketing of genetic tests directly sold to the public should be discouraged. Development of special products for personalized nutrition may be necessary in some cases. However, this may also lead to a medicalization of diet.     

TACKLING SOCIALLY DETERMINED DENTAL INEQUALITIES: ETHICAL ASPECTS OF CHILDSMILE, THE NATIONAL CHILD ORAL HEALTH DEMONSTRATION PROGRAMME IN SCOTLAND

Many ethical issues are posed by public health interventions. Although abstract theorizing about these issues can be useful, it is the application of ethical theory to real cases which will ultimately be of benefit in decision-making. To this end, this paper will analyse the ethical issues involved in Childsmile, a national oral health demonstration programme in Scotland that aims to improve the oral health of the nation's children and reduce dental inequalities through a combination of targeted and universal interventions. With Scotland's level of dental caries among the worst in Europe, Childsmile represents one of the largest programmes of work aimed at combating oral health inequalities in the UK. The areas of ethical interest include several contrasting themes: reducing health inequalities and improving health; universal and targeted interventions; political values and evidence base; prevention and treatment; and underlying all of these, justice and utility.     

临床医生在基因检测咨询中面对伦理两难问题态度与选择 ——基于情景案例分析

目的 通过情景案例分析,聚焦基因检测咨询中的伦理两难事件,探究临床医生的伦理道德抉择及可能的影响因素。 方法 采用分层随机抽样方法,对624名临床医生进行了匿名问卷调查。 结果 对于XY染色体女性案件,88%的应答者选择告知敏感性信息;对于父系信息的披露,近60%的应答者选择单独告诉母亲;对于是否告知患儿其他亲属相关遗传病信息的案件,应答者的意见则相对分散。 结论 针对三个典型的基因检测咨询中的伦理两难问题,应结合国际相关指南的要求,进一步加大相关的法律与伦理理念、知识的教育与普及。