Beyond consent: ethical and social issues in genetic testing

Informed consent is a vital ethical doctrine in clinical medicine and, through genetic counselling, is being applied to genetic testing. But genetic testing raises issues that transcend the traditional concept of informed consent. Genetic tests are adopted without demonstrable clinical benefit, and the consequences of testing can reach beyond the individual to their families and communities. Understanding the social and cultural context of genetic testing will lead to more informed discussion and debate on these issues.     

Bioethics for clinicians: 14. Ethics and genetics in medicine

Information about a patient''s inherited risk of disease has important ethical and legal implications in clinical practice. Because genetic information is by nature highly personal yet familial, issues of confidentiality arise. Counselling and informed consent before testing are important in view of the social and psychological risks that accompany testing, the complexity of information surrounding testing, and the fact that effective interventions are often not available. Follow-up counselling is also important to help patients integrate test results into their lives and the lives of their relatives. Genetic counselling should be provided by practitioners who have up-to-date knowledge of the genetics of and the tests available for specific diseases, are aware of the social and psychological risks associated with testing, and are able to provide appropriate clinical follow-up. Some physicians may elect to refer patients for genetic counselling and testing. However, it is inevitable that all physicians will be involved in long-term follow-up both by monitoring for disease and by supporting the integration of genetic information into patients'' lives.     

The European bitterling: a model for oviposition decision

For oviparous species, oviposition decisions can have significant fitness consequences. The European bitterling ( Rhodeus sericeus ) is a cyprinid fish that lays its eggs on the gills of freshwater mussels. Because bitterling use a discrete spawning site that can be readily manipulated, they are unusually amenable to field and laboratory studies aimed at understanding the adaptiveness and consequences of oviposition decisions. Here I present data demonstrating the adaptiveness of oviposition decisions by female bitterling, and link these decisions, using game‐theory models, with bitterling population dynamics. I explain the proximate cues used by females in making oviposition choices, and how these respond to environmental variables. I also show how the oviposition decisions of males relate to the risk of sperm competition in mussels, and propose that oviposition choices may represent an inter‐sexual conflict in bitterling. Finally, I present behavioural and genetic data from mesocosm experiments to show the implications of global and local male densities for female oviposition opportunities, and consider the consequences for bitterling population dynamics.     

Apropos of a family with Huntington's chorea

The observed cases deal with six generations. The penetrance is there complete and the male diseases more frequent. The fifth generation shows infantile and youth disease that proceed from fatherly transmission during several generations. The anticipation is discussed, as well as possible genetic counselling and the psychological effects upon mothers.     

Ethical considerations in the presymptomatic diagnosis of Alzheimer's disease

Research into the human genome has undoubtedly opened up a new perspective in medicine. The ability to identify the cause of specific diseases, especially neurodegenerative diseases, will definitively change the concepts of disease and treatment, while advances such as antibiotic therapy and anesthesia will be relegated to history. However, the arrival of genome medicine poses major bioethical challenges, many of which remain to be resolved. We review the applicability, results and consequences of predictions based on genetic tests for presymptomatic Alzheimer's disease, as well as the dilemmas and contradictions that are already arising as a result of the commercialization of predictive tests for public use with little or no medical supervision. Given that there is currently no effective treatment of Alzheimer?s disease, the greatest challenge and contradiction lies in managing the results of predictive tests. There are no indications for the performance of predictive genetic tests in late or sporadic Alzheimer's disease or for counselling of persons requesting these tests. The PICOGEN program provides a safe, effective, reliable and satisfactory option for persons requesting these tests who meet the inclusion criteria. Currently, caution should be the norm when considering the performance of predictive tests in presymptomatic dementia.     

Aspectos éticos del diagnóstico presintomático de la enfermedad de Alzheimer

Research into the human genome has undoubtedly opened up a new perspective in medicine. The ability to identify the cause of specific diseases, especially neurodegenerative diseases, will definitively change the concepts of disease and treatment, while advances such as antibiotic therapy and anesthesia will be relegated to history. However, the arrival of genome medicine poses major bioethical challenges, many of which remain to be resolved. We review the applicability, results and consequences of predictions based on genetic tests for presymptomatic Alzheimer's disease, as well as the dilemmas and contradictions that are already arising as a result of the commercialization of predictive tests for public use with little or no medical supervision. Given that there is currently no effective treatment of Alzheime?s disease, the greatest challenge and contradiction lies in managing the results of predictive tests. There are no indications for the performance of predictive genetic tests in late or sporadic Alzheimer's disease or for counselling of persons requesting these tests. The PICOGEN program provides a safe, effective, reliable and satisfactory option for persons requesting these tests who meet the inclusion criteria. Currently, caution should be the norm when considering the performance of predictive tests in presymptomatic dementia.     

Direct-to-consumer genetic testing through Internet: marketing, ethical and social issues

We probably did not anticipate all the consequences of the direct to consumer genetic tests on Internet, resulting from the combined skills of communication and genomic advances. What are the commercial strategies used by the companies offering direct-to-consumer genetic tests on Internet and what are the different social expectations on which they focus? Through a quantitative and qualitative analysis of the web sites offering such tests, it seems that these companies target a triple market based on: the "healthism" which raises health and hygiene to the top of the social values; the contemporary demands of the users to become actual actors of health decisions; and finally on the need for bio-social relationships. These three commercial strategies underlie various ethical and societal issues justifying a general analysis.     

Helping pregnant teenagers.

Teenagers who are pregnant face many difficult issues, and counseling by physicians can be an important source of help. We suggest guidelines for this counseling, beginning with a review of the scope and consequences of adolescent pregnancy. Communication strategies should be aimed at building rapport with techniques such as maintaining confidentiality, avoiding judgmental stances, and gearing communication to cognitive maturity. Techniques for exploring family relationships are useful because these relationships are key influences on subsequent decisions and behaviors. We discuss topics related to abortion and childbearing, such as safety, facilitation of balanced decision making, the use of prenatal care, and the formulation of long-term plans. Physicians who can effectively discuss these topics can help pregnant teenagers make informed decisions and improve their prospects for the future.     

Video‐recording complex health interactions in a diverse setting: Ethical dilemmas,reflections and recommendations

Video‐recording healthcare interactions provides important opportunities for research and service improvement. However, this method brings about tensions, especially when recording sensitive topics. Subsequent reflection may compel the researcher to engage in ethical and moral deliberations. This paper presents experiences from a South African genetic counselling study which made use of video‐recordings to understand communicative processes in routine practice. Video‐recording as a research method, as well as contextual and process considerations are discussed, such as researching one's own field, issues of trust and anonymity, the challenge of providing true informed consent and capturing details which may cause psychological harm. Several recommendations for research practice in diverse healthcare settings are made. This includes the value of reflective pieces, the importance of retrospective consent, disclosure of the limitations to anonymity, as well as the collective responsibility of those involved to produce ethical research. These recommendations have value for genetic counselling and other healthcare fields.     

Genetic predictive testing for bowel cancer predisposition: the impact on the individual.

When considering the impact of a genetic diagnosis of hereditary predisposition to colon cancer, there are many similarities to other predictive genetic tests, but also many differences. The development and availability of such genetic diagnoses, and the concept of testing being linked to effective prevention, have advanced rapidly, opening up not only unique opportunities but also unique psychosocial situations for the affected families-and unusual ethical issues for the professional. Compared to a diagnosis of sporadic colorectal cancer for a patient, hereditary colorectal cancer requires an understanding of genetics, heredity, and the attendant mathematics of risk calculation, but, most importantly, there must be a belief that it is possible to remain healthy whilst having an increased risk. This paper outlines the possible impact of a genetic diagnosis of hereditary non-polyposis colorectal cancer (HNPCC) or familial adenomatous polyposis (FAP) on both the individual and the family and concludes that genetic testing should be accompanied by genetic counseling. Relevant ethical issues are also introduced, with the opinion presented suggesting that if primary considerations are always for the individual rather than the family or society, then unethical or eugenic decisions are likely to be avoided.     

道德规范与动物学

道德规范教育如今已经提升到了专业的水平。因此在专业领域里 (例如工程学和医学 ) ,道德规范教育应作为必修课程。但至今很多理科课程仍没有把它列为必修课。这就给我们提出了一个疑问 :理科是专业课程吗 ?如果是的话 ,那么科学家例如动物学家需不需要熟悉他们职责范围内的道德准则和尺度呢 ?动物学家对医学上暴露的一些问题很敏感———包括我们怎样对待动物以及我们怎样或者是否开展基因工程。但是从道德观念上来看 ,道德规范教育的实行是比这两件事更实际的。这篇论文就以上观点进行了进一步的论述 ,并且对把道德规范教育加入理科课程的需求和可能性做了评估。在现实社会里 ,动物科学家是被敬重的专业人士。他们每天面对着许多极可能影响我们生活环境的决策。有鉴于此 ,动物科学家必需掌握道德规范的标准 ,并且有能力做出与此相符合的决策。这才能使我们在动物学的教学过程中确保动物学家持续稳定的专业发展方向     

Decision-making under great uncertainty: environmental management in an era of global change

Global change issues are complex and the consequences of decisions are often highly uncertain. The large spatial and temporal scales and stakes involved make it important to take account of present and potential consequences in decision-making. Standard approaches to decision-making under uncertainty require information about the likelihood of alternative states, how states and actions combine to form outcomes and the net benefits of different outcomes. For global change issues, however, the set of potential states is often unknown, much less the probabilities, effect of actions or their net benefits. Decision theory, thresholds, scenarios and resilience thinking can expand awareness of the potential states and outcomes, as well as of the probabilities and consequences of outcomes under alternative decisions.     

The rise of counselling and the return of alienism.

Current services for those with mental disorders show two trends. Psychiatric services are becoming concentrated on the care of those with "severe mental illness," largely (but unjustifiably) synonymous with chronic psychosis. The retreat of psychiatry from the care of those with non-psychotic mental disorders has helped the growth of counselling services for these patients. However, there is no evidence that non-directive counselling is effective for such disorders, in contrast to the evidence for the effectiveness of other treatments that are usually delivered by psychologists or community psychiatric nurses. By retreating from the concerns of general practice and general medicine, psychiatry is returning to the days of alienism: in Victorian terms, the care of "the mad." Possible consequences include increasing expectations of psychiatric services that cannot be met, a loss of skills within psychiatry, and increased demoralisation in the mental health services.     

Implicit normativity in scientific advice: values in nutrition scientists' decisions to give public advice

This paper focuses on implicit normative considerations underlying scientific advice -- those normative questions, decisions, or issues that scientific advisers and the general public are not fully aware of but that nevertheless have implications for the character of the advice given. Using nutritional science as an example, we identify three such implicit normative issues. The first concerns the aim of scientific advice: whether it is about avoiding harm or promoting good. The second concerns the intended beneficiaries of the advice: whether advice should be framed to benefit the society as a whole or with special concern for the most vulnerable members of the population. The third consideration involves scientific advisers' attempts to balance the strengths of the scientific evidence with the expected consequences of scientific advice. We hope to promote more explicit discussion of these issues among scientific advisers and a wider public.     

Privacy and Property Issues for a Familial Cancer Service

Approximately 1 in 30 people develop cancer due to an underlying familial predisposition. Genetic counselling and testing for people with (and at risk of) familial cancer are becoming more widely available, but service providers need to address challenging issues in relation to privacy and property. As in any counselling situation, a genetic counsellor seeks to ensure that the principles of autonomy, confidentiality, beneficence, and equity operate in favour of the client. But in dealing with a familial disorder, the application of these principles to the individual must be balanced with the potential for these principles to apply to other family members. This paper summarises the recent experience of a familial cancer service in seeking to avoid situations in which these principles, operating for both individual clients and their relatives, can come into conflict.     

A theoretical psychological perspective on predictive testing for late onset hereditary diseases

Because of the burden of serious late onset hereditary diseases, psychological counselling is commonly included in the predictive testing procedure. We discuss the components of psychological counselling in the context of neurodegenerative disorders such as Huntington's disease, some hereditary cancers and some hereditary heart diseases. Psychological counselling should be tailored to the specific characteristics of the disease: penetrance and expression of the mutation, variability of the age at onset and efficacy of prevention and treatment, if available. Finally theories that have already been used for the psychological framing of counselling in the context of predictive testing or to formulate research hypotheses (e.g. Transactional Model of Stress and Coping, Common Sense Model of Self-regulation) are discussed.     

Agent农业土地变化模型研究进展

农业土地变化是全球变化与可持续研究的热点,当前研究虽取得了长足进展,但仍存在诸多不足,集中表现在对农业土地系统复杂性与动态性的认识不够.近年来,基于Agent的农业土地变化研究(农业ABM/LUCC,Agent-based agricultural land change modeling)逐渐兴起,极大的丰富了传统研究的理论与方法,具体表现在:(1)农业ABM/LUCC将微观层面的人类个体行为整合进土地变化研究框架,有助于更加清楚的认识农业土地系统的“人类-自然”综合复杂性问题.(2)农业ABM/LUCC能够动态表达土地系统变化的内生反馈机制,有助于弥补传统的静态土地变化驱动机制分析的不足.(3)基于ABM/LUCC的农业土地利用格局动态研究是整合“人类-自然”综合研究的关键桥梁,农业ABM/LUCC能够与其他生物地球物理模型或经济模型动态嵌套,使多尺度、多维度综合模型研究成为可能.然而,农业ABM/LUCC研究也存在诸多挑战,如理论研究滞后于应用研究,大尺度应用难以开展,以及农户行为的模拟结果很难得到校验等.     

The right to genetic ignorance confirmed

One of the much debated issues around the evolving human genetics is the question of the right to know versus the right not to know. The core question of this theme is whether an individual has the right to know about her own genetic constitution and further, does she also have the right to remain in ignorance. Within liberal traditions it is usually held that people, if they so wish, have the right to all the knowledge available about themselves. This right is based on the value of autonomy or on the right of self-determination, and it is sometimes partly justified as a countermeasure to the authorities' control over people. I do not wish to deny the right to genetic knowledge (about oneself). I think that its existence is self-evident. The argument I want to put forth in this paper is that in liberal societies we should acknowledge people's right to remain in ignorance as well. The only reason for not doing this would be that grave harm to others would follow if people were allowed to make these seemingly self-regarding decisions. Arguments presented against the right to ignorance are twofold. First there are those arguing against the right to ignorance on the grounds of harm to others, that is, philosophers who do not deny people's right to ignorance in self-related matters but wish to state that genetic ignorance causes harm to others, and this is one of the most commonly accepted reason for restricting people's freedom. The other line of argument flows from the Kantian view that not even merely self-regarding foolishness (in the eyes of others) should be allowed.