Genetic counseling Ethics

This theme issue has the founding ambition of landscaping Data Ethics as a new branch of ethics that studies and evaluates moral problems related to data (including generation, recording, curation, processing, dissemination, sharing, and use), algorithms (including AI, artificial agents, machine learning, and robots), and corresponding practices (including responsible innovation, programming, hacking, and professional codes), in order to formulate and support morally good solutions (e.g. right conducts or right values). Data Ethics builds on the foundation provided by Computer and Information Ethics but, at the same time, it refines the approach endorsed so far in this research field, by shifting the Level of Abstraction of ethical enquiries, from being information-centric to being data-centric. This shift brings into focus the different moral dimensions of all kinds of data, even the data that never translate directly into information but can be used to support actions or generate behaviours, for example. It highlights the need for ethical analyses to concentrate on the content and nature of computational operations—the interactions among hardware, software, and data—rather than on the variety of digital technologies that enables them. And it emphasises the complexity of the ethical challenges posed by Data Science. Because of such complexity, Data Ethics should be developed from the start as a macroethics, that is, as an overall framework that avoids narrow, ad hoc approaches and addresses the ethical impact and implications of Data Science and its applications within a consistent, holistic, and inclusive framework. Only as a macroethics Data Ethics will provide the solutions that can maximise the value of Data Science for our societies, for all of us, and for our environments.

The concept of distributed moral responsibility (DMR) has a long history. When it is understood as being entirely reducible to the sum of (some) human, individual, and already morally loaded actions, then the allocation of DMR, and hence of praise and reward or blame and punishment, may be pragmatically difficult, but not conceptually problematic. However, in distributed environments it is increasingly possible that a network of agents, some human, some artificial (e.g. a program) and some hybrid (e.g. a group of people working as a team thanks to a software platform) may cause distributed moral actions (DMAs). These are morally good or evil (i.e., morally loaded) actions caused by local interactions that are in themselves neither good nor evil (morally neutral). In this article, I analyse DMRs that are due to DMAs and argue in favour of the allocation, by default and overridably, of full moral responsibility (faultless responsibility) to all the nodes/agents in the network causally relevant for bringing about the DMA in question, independently of intentionality. The mechanism proposed is inspired by, and adapts, three concepts: back propagation from network theory, strict liability from jurisprudence, and common knowledge from epistemic logic.

The European Medical Information Framework (EMIF) project, funded through the IMI programme (Innovative Medicines Initiative Joint Undertaking under Grant Agreement No. 115372), has designed and implemented a federated platform to connect health data from a variety of sources across Europe, to facilitate large scale clinical and life sciences research. It enables approved users to analyse securely multiple, diverse, data via a single portal, thereby mediating research opportunities across a large quantity of research data. EMIF developed a code of practice (ECoP) to ensure the privacy protection of data subjects, protect the interests of data sharing parties, comply with legislation and various organisational policies on data protection, uphold best practices in the protection of personal privacy and information governance, and eventually promote these best practices more widely. EMIF convened an Ethics Advisory Board (EAB), to provide feedback on its approach, platform, and the EcoP. The most important challenges the ECoP team faced were: how to define, control and monitor the purposes (kinds of research) for which fed-erated health data are used; the kinds of organisation that should be permitted to conduct permitted research; and how to monitor this. This manuscript explores those issues, offering the combined insights of the EAB and EMIF core ECoP team. For some issues, a consensus on how to approach them is proposed. For other issues, a singular approach may be premature but the challenges are summarised to help the community to debate the topic further. Arguably, the issues and their analyses have application beyond EMIF, to many research infrastructures connected to health data sources.

Medical industry has grown rapidly take advantage of the knowledge, resources, and various applications of genetic techniques to solve various problems related to the benefit of mankind. As a result of developments in this realm of genetic, genomic medicine appears focused on the health sector. Genomic medicine is a great springboard for diagnosing, monitoring, and provide therapy in a variety of diseases. A part of genomic medicine is genetic counseling which focused in serving genetic information concerning about genetic diseases. The development of genetic counseling services are an essential part of health care-related policy.

Preimplantation genetic diagnosis (PGD) is taken to mark the starting-point of a new phase in human reproduction, where the possibility of choosing children on genetic grounds without having to resort to dangerous or ethically controversial procedures (such as abortion) will gradually increase. Ethical and political issues actualised by this development are addressed.
The discussion touches upon issues regarding the moral status of embryos and gametes, the moral import of respecting individual autonomy and its implications for the requirement of informed consent in health-care, the connection between disease, disability and the value of life, the moral status of possible future people, and the connection between choosing children and eugenic policies of the past. Practical policy issues are addressed on the basis of this, as well as an empirical case-study of the introduction of PGD in Sweden.
The book ends up in a set of recommendations regarding the management of research on, introduction and routine use of pure selection, both within health care and from the point of view of society as a whole. It is argued that research on such procedures should be allowed and supported by society. However, tight restrictions regarding the clinical introduction of new procedures in this area is highly desirable. A rough model for implementing such restrictions is also presented. It is further asserted that, although reasons of economy and safety should limit the access to pure selection, society should not apply any explicit restrictions based on ideas regarding how different traits affect a person's quality of life. It is stressed that, in order to avoid a resurrection of eugenic policies of the past, the development in this field underlines the need for continued and strengthened public support to the sick, disabled and mentally retarded.

Keywords: assisted procreation, bioethics, embryo experimentation, eugenics, genetic testing, in vitro fertilisation, medical ethics, medical genetics, polar body biopsy, preconception diagnosis, preimplantation genetic diagnosis, prenatal diagnosis, public policy, reproductive medicine, research ethics, sex preselection.

The moral philosophy of medicine may be based on: prima facie principles (non-maleficence, beneficence, autonomy, and justice) and subsidiary principles (truth-telling, promise-keeping, confidentiality), virtues (fidelity, compassion, practical wisdom, justice, fortitude, temperance, integrity, self-effacement) or on the principle of utility (welfare maximization). In this chapter I claim that the purely rationalistic philosophy of medicine based on either duties or principles (including the principle of maximizing utility function) presents an incomplete picture of moral life which is not sufficient to cover the complexity of medical ethics, in particular the ethics of reproduction. I argue that the neo-Aristotelian virtue approach to ethics could significantly enhance the understanding of medical ethics and its application in the clinical context. Therefore, I consider the possibility of a view combining duties with virtues in a unified moral scheme.

Many physicians in Senegal and France, where most Senegalese sickle cell specialists are partially trained, assume that genetic testing that could imply selective abortion for people with sickle cell would run counter to the religious and cultural ethics of people living in Dakar. Senegalese affected by this genetic disease, however, often cite ‘‘traditional’’ rationales to indicate why such testing, if offered, might appeal to them. The reluctance of medical practitioners to entertain such testing technologies for their patients evinces a protectionist attitude toward care—an attitude that emerges within a context in which family planning and a blind concentration on HIV=AIDS have created a public health system that completely overlooks sickle cell anemia. This discriminate biopower leaves everyday biopolitics largely in the hands of families faced with this disease. It falls to them to pragmatically calculate the value that genetic testing may, or may not, hold for their own lives.

Tout savoir de l'avenir est un savoir précaire, à la fois incertain et menaçant, prometteur et angoissant, salutaire et destructeur. Dans tous les cas il ne correspond à aucune réalité actuelle et ne peut ainsi faire preuve de sa vérité que dans le futur, rétroactivement. Qu'il s'agisse de l'annonce d'un diagnostic médical avec des effets futurs dramatiques ou de la prévision d'une réussite à venir, les situations où un tel savoir est dévoilé à celui qu'il concerne sont extrêmement ambiguës. Car les effets inhérents à ce type de dévoilement vont de la prophétie auto-réalisatrice jusqu'à son contraire, la prophétie autodestructrice. Toute prévision doit donc, dans cette zone peuplée d'écueils, naviguer avec prudence si elle concerne la vie même de la personne à laquelle elle s'adresse. Je voudrais ici poser la question: qu'est-ce qui caractérise une prévision/prédiction réussie ou encore, quels en sont les réquisits?

Over the last several years, direct to consumer (DTC) genetic testing has received increasing attention in the public, healthcare and academic realms. DTC genetic testing companies face considerable criticism and scepticism, particularly from the medical and genetic counseling community. This raises the question of what specific aspects of DTC genetic testing provoke concerns, and conversely, promises, for genetic counselors. This paper addresses this question by exploring DTC genetic testing through an ethical lens. By considering the fundamental ethical approaches influencing genetic counseling (the ethic of care and principle-based ethics) we highlight the specific ethical concerns raised by DTC genetic testing companies. Ultimately, when considering the ethics of DTC testing in a genetic counseling context, we should think of it as a balancing act. We need careful and detailed consideration of the risks and troubling aspects of such testing, as well as the potentially beneficial direct and indirect impacts of the increased availability of DTC genetic testing. As a result it is essential that genetic counselors stay informed and involved in the ongoing debate about DTC genetic testing and DTC companies. Doing so will ensure that the ethical theories and principles fundamental to the profession of genetic counseling are promoted not just in traditional counseling sessions, but also on a broader level. Ultimately this will help ensure that the public enjoys the benefits of an increasingly geneticbased healthcare system.

In this article, I call for enlarging the conceptual terrain for viewing local biological expressions of illness. To date, a specific DNA sequence pattern, called “the Senegalese sickle cell haplotype,” has enjoyed extraordinary purchase on explanations for why Senegalese people may live with a “milder”form of sickle cell anemia when compared with other African populations. I argue, however, that “mild sickle cell” in Senegal emerges as a lived construct through a constitutive bond of biology, economy,and kinship. I show how patients’ enactments of biological difference are situated within larger informal economies and North–South donor priorities for health. In the absence of state funding to address patients’ needs, Senegalese sicklers create networks of care, health, and normalcy by drawing on Wolof idioms of “shared blood” that come to life in ways beyond metaphor. Their biosocial kinships result in therapeutic economies that restructure valuations of sickle cell despite serious medical constraints in this global context.

[biosociality, genetic causation, informal economies, kinship, Senegal, sickle cell, therapeutic economies.]

Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre- and post-test genetic counseling to be included with the product. Several genetic testing companies offer genetic counseling. There has been no examination to date of this service provision, whether it meets critics’ concerns and implications it may have for the genetic counseling profession. Considering the increasing relevance of genetics in healthcare, the complexity of genetic information provided by DTC GT, the mediating role of the internet in counseling, and potential conflicts of interest, this is a topic which deserves further attention. In this paper we offer a discourse analysis of ways in which genetic counseling is represented on DTC GT websites, blogs and other online material. This analysis identified four types of genetic counseling represented on the websites: the integrated counseling product; discretionary counseling; independent counseling; and product advice. Genetic counselors are represented as having the following roles: genetics educator; mediator; lifestyle advisor; risk interpreter; and entrepreneur. We conclude that genetic counseling as represented on DTC GT websites demonstrates shifting professional roles and forms of expertise in genetic counseling. Genetic counselors are also playing an important part in how the genetic testing market is taking shape. Our analysis offers important and timely insights into recent developments in the genetic counseling profession, which have relevance for practitioners, researchers and policy makers concerned with the evolving field of personal genomics.

The past few years have brought significant breakthroughs in understanding human genetics. This knowledge has been used to develop 'polygenic scores' (or 'polygenic risk scores') which provide probabilistic information about the development of polygenic conditions such as diabetes or schizophrenia. They are already being used in reproduction to select for embryos at lower risk of developing disease. Currently, the use of polygenic scores for embryo selection is subject to existing regulations concerning embryo testing and selection. Existing regulatory approaches include 'disease-based' models which limit embryo selection to avoiding disease characteristics (employed in various formats in Australia, the UK, Italy, Switzerland and France, among others), and 'laissez-faire' or 'libertarian' models, under which embryo testing and selection remain unregulated (as in the USA). We introduce a novel 'Welfarist Model' which limits embryo selection according to the impact of the predicted trait on well-being. We compare the strengths and weaknesses of each model as a way of regulating polygenic scores. Polygenic scores create the potential for existing embryo selection technologies to be used to select for a wider range of predicted genetically influenced characteristics including continuous traits. Indeed, polygenic scores exist to predict future intelligence, and there have been suggestions that they will be used to make predictions within the normal range in the USA in embryo selection. We examine how these three models would apply to the prediction of non-disease traits such as intelligence. The genetics of intelligence remains controversial both scientifically and ethically. This paper does not attempt to resolve these issues. However, as with many biomedical advances, an effective regulatory regime must be in place as soon as the technology is available. If there is no regulation in place, then the market effectively decides ethical issues.

Rapid developments in genetics and genomics have resulted in more widespread use of genetic diagnosis and counseling in clinical practice. The main aim of this practice is to give the counselee information, which is thought to enable him or her to make free and substantiated choices about available preventive and therapeutic options. For a long time ideals such as value-neutrality and non-directiveness, as well as a strong focus on respecting the autonomy of the individual counselee, have had a dominant influence on the practice of genetic counseling. More and more, however, it now becomes clear that these precepts might not always be adequate as moral guidelines, especially when strong third-party interests of the counselee’s family members are involved. Under these circumstances, an exclusive focus on the individual counselee can become morally problematic. Hence, this paper focuses on a specific category of situations, in which, after a positive genetic diagnosis, a physician deems it important to inform certain family members of her counselee who might have an increased risk of having a certain genetic predisposition. To explore the moral problems that this situation might provoke and to illustrate how they can be dealt with, this paper describes the reflections of a fictitious hospital ethics committee.

The provocative question that will guide my paper today is as the title indicates: Can Genetic Counseling learn from divination? And as you might well imagine such an improbable alliance seems promising to me! But of course, then, the intrigue remains: Why? And maybe even more, what could be learned and how? In the following I would like to reconstruct a somewhat abbreviated version of the process of reflections that authorize me, or rather us – that is, Dingdingdong. Institute for the co-production of knowledge about Huntington's Disease – to put forward such an admittedly curious proposition.

Pretendemos debater – sobretudo a partir da noção foucaultiana de biopoder e de seus desdobramentos, como a discussão em torno da sociedade de controle – uma especialidade cada vez mais comum na clínica médica: o aconselhamento genético (AG). Trata-se de uma forma, surgida e aprimorada com os avanços tecnocientíficos na área de biologia molecular, de avaliar a ocorrência ou o risco de ocorrência de doenças de causas genéticas em indivíduos específicos, seus familiares e futuros descendentes. A “não-diretividade” é um dos princípios mais ressaltados no exercício contemporâneo do AG: é a partir de dados objetivos e imparciais que cada paciente fará, livremente, “decisões informadas” (como ajustar sua dieta ou ter ou não filhos). Nesse sentido, interessa-nos discutir, mais especificamente, as congruências entre essas práticas de autovigilância e de cuidado com a própria saúde e a racionalidade política da governamentalidade neoliberal, tal como pensada por Foucault. Para isso, parece-nos relevante empreender uma comparação entre esses fenômenos dos dias que correm e as medidas eugênicas de cem anos atrás. Estas eram levadas a cabo por estados que coercitivamente disciplinavam as condutas individuais e regulavam os movimentos populacionais a fim de promover o “melhoramento da raça humana”. O AG, em contrapartida, parece desenrolar-se num contexto em que cabem aos indivíduos a atenção à saúde e a administração dos riscos. Haveria, então, uma desconcentração do poder estatal, enquanto cidadãos conscientes voluntariamente se engajam na prevenção de doenças e na otimização da saúde a partir de serviços disponíveis no mercado, como o AG. Nossa principal estratégia investigativa consiste, até então, em análises textuais e de discurso de material jornalístico sobre o AG publicado no Brasil. Buscamos identificar nos dados coletados, dentre outros elementos, os pontos de continuidade e de ruptura entre os discursos do estado, de empresas e de indivíduos envolvidos com o AG.

Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre-and post-test genetic counseling to be included with the product. Several genetic testing companies offer genetic counseling. There has been no examination to date of this service provision, whether it meets critics' concerns and implications it may have for the genetic counseling profession. Considering the increasing relevance of genetics in healthcare, the complexity of genetic information provided by DTC GT, the mediating role of the internet in counseling, and potential conflicts of interest, this is a topic which deserves further attention. In this paper we offer a discourse analysis of ways in which genetic counseling is represented on DTC GT websites, blogs and other online material. This analysis identified four types of genetic counseling represented on the websites: the integrated counseling product; discretionary counseling; independent counseling; and product advice. Genetic counselors are represented as having the following roles: genetics educator; mediator; lifestyle advisor; risk interpreter; and entrepreneur. We conclude that genetic counseling as represented on DTC GT websites demonstrates shifting professional roles and forms of expertise in genetic counseling. Genetic counselors are also playing an important part in how the genetic testing market is taking shape. Our analysis offers important and timely insights into recent developments in the genetic counseling profession, which have relevance for practitioners, researchers and policy makers concerned with the evolving field of personal genomics.

Genetic discrimination in the context of genetic testing has been identified as a concern for symptomatic and asymptomatic individuals for more than three decades. Genetic counselors are often the health care professionals who discuss risks and benefits of genetic testing with patients, thereby making them most appropriate to address patient concerns about genetics and personal insurance (i.e., life, life as related to mortgage or group insurance, disability, critical illness and travel). A pilot study was conducted to ascertain the current practices of Canadian cancer genetic counselors in regard to their discussions with patients about genetic testing and access to personal insurance. Among the 36 counselors surveyed, 100 % reported discussing the issue of genetic testing and personal insurance with their patients. Several factors influenced the content, depth and length of these discussions including age, cancer status, family members, and patients' current and future insurance needs. Counselors reported discussing with patients the possible impact of genetic test results on access to personal insurance, possible access and use of patient genetic information by insurance companies, and whom patients should contact if they have additional questions. The most commonly reported inquiries from patients included questions about the possible impact of genetic testing on their ability to obtain insurance, and the insurability of family members. While 28 % of counselors reported having been contacted by an insurer requesting access to patient information, only one counselor was aware of or could recall the outcome of such a request. This pilot study revealed that issues concerning genetics and personal insurance are commonly discussed in Canadian cancer genetic counseling sessions. Counselors furthermore expressed a need for additional educational resources on the topic of genetics and personal insurance for themselves and their patients.

The provocative question that will guide my paper today is as the title indicates: Can Genetic Counseling learn from divination? And as you might well imagine such an improbable alliance seems promising to me! But of course, then, the intrigue remains: Why? And maybe even more, what could be learned and how?

Genetic discrimination in the context of genetic testing has been identified as a concern for symptomatic and asymptomatic individuals for more than three decades. Genetic counselors are often the health care professionals who discuss risks and benefits of genetic testing with patients, thereby making them most appropriate to address patient concerns about genetics and personal insurance (i.e. life, life as related to mortgage or group insurance, disability, critical illness and travel). A pilot study was conducted to ascertain the current practices of Canadian cancer genetic counselors in regard to their discussions with patients about genetic testing and access to personal insurance. Among the 36 counselors surveyed, 100% reported discussing the issue of genetic testing and personal insurance with their patients. Several factors influenced the content, depth and length of these discussions including age, cancer status, family members, and patient's current and future insurance needs. Counselors reported discussing with patients the possible impact of genetic test results on access to personal insurance, possible access and use of patients should contact if they have additional questions. The most commonly reported inquiries from patients included questions about the possible impact  of genetic testing on their ability to obtain insurance, and the insurability of family members. While 28% of counselors reported having been contacted by an insurer requesting access to patient information, only one counselor was aware of of or could recall the outcome of such a request. This pilot study revealed that issues concerning genetics and personal insurance are commonly discussed in Canadian cancer genetic counseling sessions. Counselors furthermore expressed  a need for additional educational resources on the topic of genetics and personal insurance for themselves and their patients.

O presente estudo trata acerca do processo de aconselhamento genético (AG) por intermédio do exercício da telemedicina, considerados instrumentos de promoção da universalidade e equidade em saúde no tratamento das doenças raras geneticamente hereditárias, visando estimular o diagnóstico precoce e, consequentemente, os melhores resultados no tratamento. Baseado nessas premissas, aborda-se a problemática dos desafios da promoção do diagnóstico precoce das doenças genéticas raras no Brasil, um país de grande extensão territorial e com pouco quantitativo de médicos especialistas em genética médica e em doenças raras, concentrados nos centros urbanos. Adotou-se o método de natureza exploratória, pelo qual sucedeu com o levantamento e revisão bibliográfica e documental, sobretudo de pesquisas realizadas com pacientes oncológicos (dadas as semelhanças clínicas), aproveitando-se os resultados no que tange aos benefícios e desafios da implementação da telemedicina em genética: telegenética. Objetiva-se, com efeito, compreender os desafios e apresentar os benefícios da utilização da telemedicina no processo de aconselhamento genético, individual e familiar, das pessoas com doenças genéticas raras no âmbito do Sistema Único de Saúde (SUS), em busca da redução da mortalidade e promoção da qualidade de vida dessas pessoas.