Do we owe anything to our genetic relatives qua genetic relatives? The philosophical literature has primarily addressed this question in the context of procreation. But genetic matching databases raise the question of whether we owe anything to previously unknown genetic relatives. This article argues that influential philosophical arguments regarding moral claims to know one’s genetic origins (sometimes referred to as a ‘right to know’) in the context of gamete donation have implications for (...) a broader set of claims. First, these arguments imply more than a claim to know the identity of a genetic relative; the interests which they invoke can only be satisfied through a relationship. Second, the scope of the claims is broader than tends to be acknowledged: even if procreators have special obligations towards their offspring, these arguments imply that weighty moral claims can be made against other genetic relatives in many different contexts. (shrink)

Background: When a genetic mutation is identified in a family member, internationally, it is usually the proband’s or another responsible family member’s role to disclose the information to at-risk relatives. However, both active and passive non-disclosure in families occurs: choosing not to communicate the information or failing to communicate the information despite intention to do so, respectively. The ethical obligations to prevent harm to at-risk relatives and promote the duty of care by genetic health professionals is (...) in conflict with Privacy laws and professional regulations that prohibits disclosure of information to a third party without the consent of the proband. In New South Wales, Australia, amendments to Privacy legislation permits such disclosure to living genetic relatives with the process defined under guidelines although there is no legal duty to warn. This study assessed NSW GHP’s awareness and experience of the legislation and guidelines. Methods: An online survey collected demographics; theoretical knowledge; clinical scenarios to assess application knowledge; attitudes; confidence; experience with active non-disclosure. A link to correct answers was provided after completion. Knowledge scores above the median for non-parametric data or above the mean for parametric data were classified as ‘good’ or ‘poor’. Chi square tests assessed associations between confidence and knowledge scores. Results: While many of the 37 participants reported reading the guidelines, there was limited awareness of their scope and clinical application; that there is no legal duty to warn; and that the threat does not need to be imminent to warrant disclosure. No association between confidence and ‘good’ theoretical or applied clinical knowledge was identified. Uncertainty of their professional responsibility was identified and in the several case examples of active non-disclosure that were reported this uncertainty reflected the need for further understanding of the guidelines in regard to the processes required before disclosure was initiated. Conclusions: There is a need for further education and training about the guidelines associated with the legislation that would be relevant to support disclosure. The findings may inform future strategies to support introduction of policy changes in other jurisdictions where similar regulatory regimes are introduced. (shrink)

Genetic testing reveals information about a patient's health status and predictions about the patient's future wellness, while also potentially disclosing health information relevant to other family members. With the increasing availability and affordability of genetic testing and the integration of genetics into mainstream medicine, the importance of clarifying the scope of confidentiality and the rules regarding disclosure of genetic findings to genetic relatives is prime. The United Nations International Declaration on Human Genetic Data urges (...) an appreciation for principles of equality, justice, solidarity and responsibility in the context of genetic testing, including a commitment to honoring the privacy and security of the person tested. Considering this global mandate and recent professional statements in the context of a legal amendment to patient privacy policies in Australia, a fresh scrutiny of the legal history of a physician's duty to warn is warranted. This article inquiries whether there may be anything ethically or socially amiss with a potential future recommendation for health professionals or patients to universally disclose particular cancer predisposition genetic diagnosis to genetic family members. While much of the discussion remains applicable to all genetic diagnosis, the article focuses on the practice of disclosure within the context of BRCA1/2 diagnosis. An ‘ethic of care’ interpretation of legal tradition and current practice will serve to reconcile law and medical policy on the issue of physician disclosure of genetic results to family members without patient consent. (shrink)

Many adoptees face a number of challenges relating to separation from biological parents during the adoption process, including issues concerning identity, intimacy, attachment, and trust, as well as language and other cultural challenges. One common health challenge faced by adoptees involves lack of access to genetic-relative family health history. Lack of GRFHx represents a disadvantage due to a reduced capacity to identify diseases and recommend appropriate screening for conditions for which the adopted person may be at increased risk. In (...) this article, we draw out common features of traditionally understood “health disparities” in order to identify analogous features in the context of adoptees’ lack of GRFHx. (shrink)

Direct-to-consumer genetic testing is a growing phenomenon, fuelled by the notion that knowledge equals control. One ethical question that arises concerns the proband’s duty to share information indicating genetic risks in their relatives. However, such duties are unenforceable and may result in the realisation of anticipated harm to relatives. We argue for a shift in responsibility from proband to provider, placing a duty on test providers in the event of identified actionable risks to relatives. Starting (...) from Parker and Lucassen’s 'joint account model', we adapt Kilbride’s application of the rule of rescue and balance it against the relative’s right not to know, placing responsibility on the providers of direct-to-consumer genetic testing. Where the risk of disease to a relative is actionable, we argue providers ought to share results even in the face of the proband’s objections. Confidentiality issues are navigated by a pre-emptive consent model, whereby consumers agree to the sharing of certain information with their relatives ahead of testing and as a condition of testing. When a relative is informed, the proband’s privacy is protected by maximal deidentification, and the rights of the relative are met by a stepwise approach to informing that allows them to decide how much information they receive. (shrink)

This article investigates a high-profile and ongoing dilemma for healthcare professionals (HCPs), namely whether the existence of a (legal) duty of care to genetic relatives of a patient is a help or a hindrance in deciding what to do in cases where a patient’s genetic information may have relevance to the health of the patient’s family members. The English caseABC v St George’s Healthcare NHS Trust and othersconsidered if a duty of confidentiality owed to the patient and (...) a putative duty of care to the patient’s close relatives could coexist in this context. This article examines whether embracing the concept of coexisting duties could enable HCPs to respect duties in line with their clinical judgement, thereby providing legal support and clarity to professionals to allow them to provide the best possible genetics service to both the patient and their family. We argue that these dual duties, framed as a novel, composite duty to consider the interests of genetic relatives, could allow HCPs to exercise and act on their professional judgements about the relative value of information to family members, without fears of liability for negligence or breach of confidence. (shrink)

Mitochondrial donation poses the latest regulatory challenge for policy-makers in the context of assisted conception. Since 2010 the Human Genetics Commission, the Human Fertilisation and Embryology Authority and the Nuffield Council on Bioethics have all considered the policy implications of permitting use of these techniques in treatment. The Nuffield Council on Bioethics reported its recommendations in June 2012 following a consultation on the ethical issues raised by these techniques; and a separate consultation by the Human Fertilisation and Embryology Authority in (...) conjunction with Sciencewise-ERC followed in September 2012. Matters for consideration included the potential relationships created by the use of three parties’ genetic material and the associated ramifications, eg whether or not there is a need to establish records of such donations and, if so, to whom should information later be provided? Thus, mitochondrial donation poses both novel and familiar questions about the ‘genetic family’, ‘parentage’ and ‘identity’. This article explores some of the ways in which mitochondrial DNA is constructed as relatively significant in recent Parliamentary debates, policy and consultation documents. It reflects on the ways in which the role of some genetic connections, or lack thereof, are mediated in law and policy. (shrink)

BackgroundWith advances in sequencing technologies, increasing numbers of people are being informed about a genetic disease identified in their family. In current practice, probands are asked to inform at-risk relatives about the diagnosis. However, previous research has shown that relatives are sometimes not informed due to barriers such as family conflicts. Research on family communication in genetic diseases aims to explore the difficulties encountered in informing relatives and to identify ways to support probands in this.Main (...) bodyResearch on family communication may also reveal that participants did not inform their relatives about the risk of a serious genetic condition, even when preventive and treatment options are available. Researchers may then face a dilemma: Do they need to warn at-risk relatives about the finding? Or do they keep silent due to prior confidentiality agreements with study participants?ConclusionsWe believe that the absolute confidence promised to research participants outweighs the interests of their relatives, even though it can be claimed that relatives at risk of a genetic disease do, in principle, have a right to know information collected about their health. Not respecting confidentiality agreements could cause distrust between researchers and research participants and possibly harm the relationship between probands and relatives. Relatives' health interests can still be taken into account without jeopardizing participant trust, by considering alternative scenarios, including sharing general study findings on the barriers participants experience with their healthcare professionals and by offering participants psychosocial support for family communication. (shrink)

Genetic testing has familial implications. Counsellors find themselves in (moral) conflict between medical confidentiality (towards the patient) and a potential right or even duty to warn at-risk relatives. Legal regulations vary between countries. English literature about German law is scarce. We reviewed the literature of relevant legal cases, focussing on German law, according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. This article aims to familiarise counsellors with their responsibilities, compare the situation between countries and (...) point out legally unresolved areas.According to the German Genetic Diagnostics Act (Gendiagnostikgesetz) in case of an ‘avoidable or treatable’ genetic disorder, geneticists ought to confine themselves to the obligated advice to the patient. Whether a breach of the duty of confidentiality can be justified in exceptional cases by ‘necessity as justification’ for actively informing relatives at risk remains legally unclear. In case of a ‘neither avoidable nor treatable’ genetic disease, geneticists should also refrain from actively informing relatives as the justifiable state of emergency does not permit to break the duty of confidentiality. (shrink)

The American Journal of Bioethics, Volume 12, Issue 10, Page 10-12, October 2012.

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)

The study of mental illness by the methods of molecular genetics is still in its infancy, but the use of genetic markers in psychiatry may potentially lead to a Virchowian revolution in the conception of mental illness. Genetic markers may define novel clusters of patients having diverse clinical presentations but sharing a common genetic and mechanistic basis. Such clusters may differ radically from the conventional classification schemes of psychiatric illness. However, the reduction of even relatively simple Mendelian (...) phenomena to molecular genetics has been shown to be a surprisingly complex and problematic enterprise. Mental illnesses exist at many levels of including social, environmental, and developmental interactions. Reductionistic shifts in the classification of such a disease entity will have to address the interlevel dynamics that take place within the structure of theories of mental illness. The question of how molecular analysis of psychiatric disease will impact on the structure of existing theories and classification systems is the central topic of this paper. (shrink)

When considering the principle of medical confidentiality, disclosure of genetic information constitutes a special case because of the impact that this information can have on the health and the lives of relatives. The aim of this study is to explore the attitudes of Turkish physicians and patients about sharing information obtained from genetic tests.

The phenomenon of the New Genetics raises complex social problems, particularly those of privacy. This book offers ethical and legal perspectives on the questions of a right to know and not to know genetic information from the standpoint of individuals, their relatives, employers, insurers and the state. Graeme Laurie provides a unique definition of privacy, including a concept of property rights in the person, and argues for stronger legal protection of privacy in the shadow of developments in human (...) genetics. He challenges the role and the limits of established principles in medical law and ethics, including respect for patient autonomy and confidentiality. This book will interest lawyers, philosophers and doctors concerned both with genetic information and issues of privacy; it will also interest genetic counsellors, researchers, and policy makers worldwide for its practical stance on dilemmas in modern genetic medicine. (shrink)

Leading research projects are evidence of the growing public interest in genetic diagnosis and treatment. In this context, disclosure of genetic information to relatives has become a prominent issue. However, this involves patient confidentiality, which is grounded in law and conflicts with disclosure to relatives. When conducting a legal and bioethical discussion in this context, it is first necessary to examine how clinicians perceive the role of law in their practice and how they interpret it. A (...) qualitative study was therefore conducted among clinicians in Israel. The findings indicate that the clinicians’ approach is more relational than that of the law, in view of their pro-active steps to ensure that familial information reaches the relatives when the patient is reluctant to convey this information themselves. In light of these findings the authors argue that the law can resolve situations of explicit and implicit refusal to inform relatives. (shrink)

Background Investigative genetic genealogy (IGG) is a technique that involves uploading genotypes developed from perpetrator DNA left at a crime scene, or DNA from unidentified remains, to public genetic genealogy databases to identify genetic relatives and, through the creation of a family tree, the individual who was the source of the DNA. As policymakers demonstrate interest in regulating IGG, it is important to understand public perspectives on IGG to determine whether proposed policies are aligned with public (...) attitudes.Methods We conducted eight focus groups with members of the public (N = 72), sampled from four geographically diverse US regions, to explore general attitudes and perspectives regarding aspects of IGG practices, applications, and policies. Five major topics were explored in each focus group: when IGG should be used; who should perform IGG; how to approach consent for genetic database users; what systems of oversight should govern IGG practitioners; and whether to notify database users if their data are involved in law enforcement (LE) matching.Results Participants were supportive of IGG in most scenarios, especially for cold and violent cases. The favorable attitudes toward IGG were, however, tempered by distrust of law enforcement among some participants. All participants agreed that databases must inform users if IGG is allowed, but they did not agree on how individual database users should be allowed to opt out or whether to notify them if their data are involved in specific investigations. All participants agreed that IGG should be subject to some prescriptive guidelines, regulations, or accountability mechanisms.Conclusions These findings suggest broad public support for IGG, and interest in developing systems of accountability for its practice. Our study provides useful insight for policy makers, genomic database stewards, law enforcement, and other stakeholders in IGG’s practice, and suggests multiple directions for future research. (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)

The right not to know is often defended on the basis of the principle of respect for personal autonomy. If I choose not to acquire personal information that impacts on my future prospects, such a choice should be respected, because I should be able to decide whether to access information about myself and how to use it. But, according to the incoherence objection to the right not to know in the context of genetic testing, the choice not to acquire (...) genetic information undermines the capacity for autonomous decision making. The claim is that it is incoherent to defend a choice that is inimical to autonomy by appealing to autonomy. In this paper, I suggest that the choice not to know in the context of genetic testing does not undermine self-authorship, which is a key aspect of autonomous decision making. In the light of this, the incoherence objection to the right not to know seems less compelling. (shrink)

Recent decades have seen the facilitation of unconventional or even extraordinary reproductive endeavours. Sperm has been harvested from dying or deceased men at the request of their wives; reproductive tissue has been surgically removed from children at the request of their parents; deceased adults’ frozen embryos have been claimed by their parents, in order to create grandchildren; wombs have been transplanted from mothers to their daughters. What is needed for requests to be honoured by healthcare staff is that they align (...) with widely shared expectations about what people’s reproductive potential ought to be, what marital relationships ought to result in, and which kinds of ties are desirable between parents and children. Costly and invasive technologies are not considered excessive when they are used to support the building of appropriate families. However, deviations from dominant reproductive norms, even if technologically simple and convenient to the participants, are unlikely to receive support. In this paper, we offer examples of such deviations and explore their implications. If reproduction is important as a way of creating genetic relationships, should reproductive material in storage be offered to genetic relatives other than the people from whom it originated? And if parents are allowed to have reproductive material collected from their offspring, or even to use it to create babies, should offspring likewise be allowed to use their parents’ reproductive material? We tackle these questions and suggest ways in which interests in genetic ties could be operationalised in a more coherent and less-invasive manner than they currently are. (shrink)

Predictive genetic testing is now routinely offered to asymptomatic adults at risk for genetic disease. However, testing of minors at risk for adult-onset conditions, where no treatment or preventive intervention exists, has evoked greater controversy and inspired a debate spanning two decades. This review aims to provide a detailed longitudinal analysis and concludes by examining the debate's current status and prospects for the future. Fifty-three relevant theoretical papers published between 1990 and December 2010 were identified, and interpretative content (...) analysis was employed to catalogue discrete arguments within these papers. Novel conclusions were drawn from this review. While the debate's first voices were raised in opposition of testing and their arguments have retained currency over many years, arguments in favour of testing, which appeared sporadically at first, have gained momentum more recently. Most arguments on both sides are testable empirical claims, so far untested, rather than abstract ethical or philosophical positions. The dispute, therein, lies not so much in whether minors should be permitted to access predictive genetic testing but whether these empirical claims on the relative benefits or harms of testing should be assessed. (shrink)

Quantitative genetics (QG) analyses variation in traits of humans, other animals, or plants in ways that take account of the genealogical relatedness of the individuals whose traits are observed. “Classical” QG, where the analysis of variation does not involve data on measurable genetic or environmental entities or factors, is reformulated in this article using models that are free of hypothetical, idealized versions of such factors, while still allowing for defined degrees of relatedness among kinds of individuals or “varieties.” The (...) gene - free formulation encompasses situations encountered in human QG as well as in agricultural QG. This formulation is used to describe three standard assumptions involved in classical QG and provide plausible alternatives. Several concerns about the partitioning of trait variation into components and its interpretation, most of which have a long history of debate, are discussed in light of the gene-free formulation and alternative assumptions. That discussion is at a theoretical level, not dependent on empirical data in any particular situation. Additional lines of work to put the gene-free formulation and alternative assumptions into practice and to assess their empirical consequences are noted, but lie beyond the scope of this article. The three standard QG assumptions examined are: (1) partitioning of trait variation into components requires models of hypothetical, idealized genes with simple Mendelian inheritance and direct contributions to the trait; (2) all other things being equal, similarity in traits for relatives is proportional to the fraction shared by the relatives of all the genes that vary in the population (e.g., fraternal or dizygotic twins share half of the variable genes that identical or monozygotic twins share); (3) in analyses of human data, genotype-environment interaction variance (in the classical QG sense) can be discounted. The concerns about the partitioning of trait variation discussed include: the distinction between traits and underlying measurable factors; the possible heterogeneity in factors underlying the development of a trait; the kinds of data needed to estimate key empirical parameters; and interpretations based on contributions of hypothetical genes; as well as, in human studies, the labeling of residual variance as a non-shared environmental effect; and the importance of estimating interaction variance. (shrink)

This paper argues that the value of genetic-relative family health history information and the notion that lack of this information is a disadvantage can be established through its role as a nested goal in comprehensive life projects independent of documentation of particular health outcomes. Health information often plays a significant role in a person's formulation of life goals and projects, as well as in identification of plausible effective means to realize these goals. If health outcomes are valuable in part (...) because of the nested role these play in the successful realization of a person's life projects and goals, then other, similarly nested contributors to such success must also be valued on a similar scale. Some of these other contributors to a successful life may themselves be nested with health considerations, as illustrated in the relationship that will be the focus of this paper. Health information --independent of outcomes per se – influences relationships, reproduction, and the formulation of plausible comprehensive life goals in intricate and very influential ways. Although such information may be valued in part because it is predictive of health outcomes, this relationship does not reduce such information, nor the comprehensive life goals and projects such information promotes, to health outcomes. That is, while health status can both enhance and detract from the autonomous pursuit of life projects formulated in the context of health information, the value and weight of these projects is independent of particular health status or outcomes, even while in part shaped by them. (shrink)

Communicating genetic information to family members has been the subject of an extensive debate recently in bioethics and law. In this context, the extent of the relatives’ right to know and not to know is examined. The mainstream in the bioethical literature adopts a liberal perception of patient autonomy and offers a utilitarian mechanism for solving familial tensions over genetic information. This reflects a patient-centred approach in which disclosure without consent is justified only to prevent serious harm (...) or death to others. Based on a legal and bioethical analysis on the one hand, and an examination of empirical studies on the other, this paper advocates the adoption of a relational perception of autonomy, which, in the context of genetics, takes into account the effect that any decision—whether to disclose or not to disclose—will have on the familial relationship and the dynamics of the particular family. Adding this factor to the criteria usually advocated by lawyers and ethicists will facilitate reaching a sensitive decision, which recognises the various interests of family members beyond the risk to physical health. Taking this factor into account will require a process of deliberation both between doctors and patients, and in the family. It will also require a relaxation of medical confidentiality, as the family rather than the patient is gradually perceived as the unit of care. Moreover, adopting such a relational approach will accord with current views of doctors and patients who base their decision primarily on the nature of the familial relationship. (shrink)

In this book, Ted Peters explores the fallacies of the "gene myth" and presents a resounding array of arguments against this kind of all-encompassing genetic determinism. On the scientific side, he correctly points out that genetic influences on behavior are in most instances relatively modest. Does anyone deny that identical twins are still able to practice individual free will? After dispatching some of the sweepingly deterministic conclusions of the "science" of evolutionary psychology with a particularly effective set of (...) rebuttals, Peters arrives at the conclusion that the nature of humanness is an interaction of three things- not one, not two, but three: genetics, environment, and free will. Neglecting any one of these three leads down a path of fuzzy thinking and dangerous consequences. (shrink)

The human gene pool displays exuberant genetic variation; this is normal for a sexual species. Even small isolated populations contain a large percentage of the total variability, emphasizing the basic genetic unity of our species. As modern man spread across the world from its African source, the genetic basis for man''s unique mental acuity was retained everywhere. Nevertheless, some geographical genetic variation such as skin color, stature and physiognomy was established. These changes were biologically relatively insignificant. (...) Most of the genetic load in the genome has been carried throughout the history of the species. There is little hope of purging all of these harmful genes; we must accept them and continue to treat their syndromes medically. All populations carry extensive genetic variation due to genes that encode variations in quantitative traits. Of greatest importance among these is ubiquitous polygenic variability in brain function and intelligence. Mental acuity is what sets us apart from the rest of the biological world. Throughout our history, genetic recombination among the many genes involved in brain function has occurred. This has provided a genetic basis for the action of natural selection that favors intelligence in meeting the demands of the environment. As environments change in the future, this type of genetic variability will continue to be a crucial resource. (shrink)

The sequence of nucleotide bases occurring in an organism’s DNA is often regarded as a codescript for its construction. However, information in a DNA sequence can only be regarded as a codescript relative to an operational biochemical machine, which the information constrains in such a way as to direct the process of construction. In reality, any biochemical machine for which a DNA codescript is efficacious is itself produced through the mechanical interpretation of an identical or very similar codescript. In these (...) terms the origin of life can be described as a bootstrap process involving the simultaneous accumulation of genetic information and the generation of a machine that interprets it as instructions for its own construction. This problem is discussed within the theoretical frameworks of thermodynamics, informatics and self-reproducing automata, paying special attention to the physico-chemical origin of genetic coding and the conditions, both thermodynamic and informatic, that a system must fulfil in order for it to sustain semiosis. The origin of life is equated with biosemiosis. (shrink)

A current trend in bioethics considers genetic information as family property. This paper uses a logical approach to critically examine Matthew Liao’s proposal on the familial nature of genetic information as grounds for the duty to share it with relatives and for breach of confidentiality by the geneticist. The authors expand on the topic by examining the relationship between the arguments of probability and the familial nature of genetic information, as well as the concept of harm (...) in the context of genetic risk. Lastly, they examine the concept of harm in relation to the type of situations w the potential recipient of the information is not the person directly affected by the risk. (shrink)

_ Source: _Page Count 30 GER Lloyd discerns two conflicting hypotheses concerning human cognition: cross-cultural universality and cultural relativity. The history of science is one discipline among many actively contributing to our understanding of human cognition at present. Not surprisingly, then, the dichotomy is also present in the history of science. In contrast to current approaches to the history of science, which highlight cultural relativity, genetic epistemology, which is conceived by Jean Piaget as a science of the acquisition of (...) knowledge, emphasises cross-cultural universality. Using the multidimensionality of phenomena and different styles of inquiry, I will argue that there is no inherent contradiction in the different approaches to the history of science. However, the amicable co-existence of both approaches has been undermined by Peter Damerow, who criticised the applicability of genetic epistemology to the historical development of knowledge on historical and theoretical grounds. In this paper, I will review Damerow’s theoretical critique, and, in formulating a response, I will argue that genetic epistemology cannot be dismissed as one of many legitimate styles of inquiry into the history of science on the basis of this critique. (shrink)

Researchers studying human behavioral genetics have made significant scientific progress in enhancing our understanding of the relative contributions of genetics and the environment in observed variations in human behavior. Quickly outpacing the advances in the science are its applications in the criminal justice system. Already, human behavioral genetics research has been introduced in the U.S. criminal justice system, and its use will only become more prevalent. This essay discusses the recent historical use of behavioral genetics in criminal cases, recent advances (...) in two gene variants of particular interest in the criminal law, MAOA and SLC6A4, the recent expert testimony on behalf of criminal defendants with respect to these two gene variants, and the future direction of behavioral genetics evidence in criminal cases. (shrink)

AimTo examine the relative cost-effectiveness of predictive genetic tests for familial breast and ovarian cancer provided by Genetic Services of Western Australia.MethodsThe relative cost-effectiveness was assessed using a decision analytic model.ResultsThe cost and outcomes of genetic testing was compared in first-degree relatives of known BRCA1/2 mutation-carriers who have a 50% risk of carrying the mutated gene (intervention group) to individuals with the same a priori risk but who do not undergo a genetic test (control subjects).Since (...) genetic testing enables the restriction of intensive surveillance to individuals with an identified BRCA1/2 gene mutation, net savings in the period observed (age 25-70) were $980-$1008 per woman in the ovarian intervention group and $1681-$1795 per woman in the breast intervention group, and delayed the onset of breast cancer (6mths BRCA1, 3mths BRCA2).Compared to control subjects undergoing population surveillance, it was estimated the onset of breast cancer could be delayed at a total net cost of $3055 (5.1yrs) to $3389 (3.2yrs) for women in the breast intervention group with BRCA1/2 mutations. Since population surveillance is not currently recommended for ovarian cancer, control subjects undergoing no surveillance were compared with the intervention group. The onset of ovarian cancer was delayed at a net cost of $1630 (3.5yrs) to $2509 (1.2years) for women with BRCA1/2 mutations.ConclusionsTesting allows targeted high-level surveillance for gene mutation carriers, which ensures the cost-effective use of resources and reduces cancer-related morbidity if clinical recommendations for intervention are adopted. (shrink)

Suppose that you have deeply personal information that you do not want to share. Further suppose that this information could help others, perhaps even saving their lives. Should you reveal the information or keep it secret? With the increasing prevalence of genetic testing, more and more people are finding themselves in this situation. Although a patient's genetic results are potentially relevant to all her biological family members, her first‐degree relatives—parents, children, and full siblings—are most likely to be (...) affected. This is especially true for genetic mutations—like those in the BRCA1 and BRCA2 genes—that are associated with a dramatically increased risk of disease. Fortunately, people are usually willing to share results with their at‐risk relatives. Occasionally, however, a patient refuses to disclose her findings to anyone outside her clinical team. Ethicists have written little on patients’ moral duties to their at‐risk relatives. Moreover, the few accounts that have been advanced are problematic. Some unnecessarily expose patients’ genetic information to relatives who are unlikely to benefit from it, and others fail to ensure that patients’ most vulnerable relatives are informed of their genetic risks. Patients’ duty to warn can be defended in a way that avoids these problems. I argue that the duty to share one's genetic results is grounded in the principle of rescue—the idea that one ought to prevent, reduce, or mitigate the risk of harm to another person when the expected harm is serious and the cost or risk to oneself is sufficiently moderate. When these two criteria are satisfied, a patient will most likely have a duty to warn. (shrink)

In developing a framework for assessing privacy risks, Dupras and Bunnik’s “Toward a framework for assessing privacy risks in multi-omic research and databases” considers the question of whe...

Genebanking, the process of preserving genetic resources, is a central practice in the modern management of crop genetics, especially for the species used for food and agriculture. Closely interrelated networks of local, national and global actors are responsible for ex situ conservation. They all seek to make plant genetic resources accessible for all and now face new challenges arising from digitisation. Plant sciences are entering the postgenomic era, moving fast from initially providing a single reference genome for each (...) species (genomics), to harnessing the extent of diversity within crop species (pangenomics) and among their relatives (referred to as postgenomics). This paper describes the extent to which ex situ collections have already undergone a digital shift, or are planning to do so, and the potential impact of this postgenomic-induced dematerialisation on the global governance of plant genetic resources. In turn, digitising material (seed) collection changes the relationship between genebanks and genomic databases. Comprehensive genomic characterisation of genebank accessions is ongoing, and I argue here that these efforts may provide a unique opportunity for genebanks to further embrace the moral, ethical and ultimately political principles on which they were built. Repurposing genebanks as decentralised digital biocentres could help relocate capabilities and stewardship over genetic resources. Empowering local farmers by providing access, promoting the use and unlocking benefits from state-of-the-art tools of modern plant breeding may allow bridging the breeding divide. However, to accomplish such a paradigm shift, genebanks require a strong political mandate that must primarily originate from the access and benefit-sharing framework. Only so may the global challenges associated with the loss of biodiversity and food insecurity be addressed. (shrink)

This paper considers the revolutionary developments occurring in the field of genetic mapping and the genetic identification of disease propensities. These breakthroughs are discussed relative to the ethical and economic implications for the insurance industry. Individual's privacy rights and rights to employment must be weighed against the insurers desire for better estimates of future loss costs associated with health, life and other insurances. These are in turn related to the fundamental conception of insurance as a financial intermediary versus (...) insurance as a vehicle for social policy. (shrink)

We examined the association of parents’ genetic causal beliefs and parenting behaviors, hypothesizing a positive association between parents’ genetic causal beliefs and their use of psychological control. Study 1 (N = 394) was a cross-sectional survey and revealed that parents’ genetic essentialism beliefs were positively associated with their self-reported use of harsh psychological control, but only for parents who reported relatively high levels of problem behaviors in their children. Study 2 (N = 293) employed a 4-day longitudinal (...) design and revealed that parents’ genetic causal beliefs positively predicted the use of psychological control, especially on days when they perceived relatively high problem behaviors in children. Overall, the studies demonstrated that parents’ genetic causal beliefs about character positively predicted psychologically controlling and harsh responses to child problem behaviors, which may ultimately be detrimental to child development. (shrink)

The utilitarian calculators of genetic therapy would do well to reflect again on Mills' liberal democratic rules of thumb: utility will generally be maximized when people are free to make choices, with good information, good instruments of collective action (democracy), and relative equality. My rule of thumb is that if we give future generations genetic choices, they will generally choose health, happiness, intelligence, and longevity, for themselves and their descendants.

With advances in genetic technology, there are increasing concerns about the way in which genetic information may be abused, particularly in people at increased genetic risk of developing certain disorders. In a recent case in Hong Kong, the court ruled that it was unlawful for the civil service to discriminate in employment, for the sake of public safety, against people with a family history of mental illness. The plaintiffs showed no signs of any mental health problems and (...) no genetic testing was performed. This was the first case concerning genetic discrimination in common law jurisdictions, therefore the court's judgment has implications for how genetic discrimination cases may be considered in the future. The court considered it inappropriate to apply population statistics or lifetime risks to individuals while examining fitness for work. It recommended an individualised assessment of specific risks within the job, relative to other risks posed by that workplace. (shrink)

Der Artikel untersucht einen Fall, in dem jemand von einem Mediziner die Offenlegung der Resultate eines Gentests seines verstorbenen Vaters verlangt. Die vorläufigen Ergebnisse der Studie des Mediziners lassen auf ein um 10% erhöhtes Risiko für Darmkrebs in Verbindung mit der Beschaffenheit eines der Gene des Vaters schließen. Dieser Fall wirft Fragen im Hinblick auf zumindest drei unterschiedliche Aspekte auf: die Offenlegung von Informationen mit geringem Aussagewert; die Offenlegung von Untersuchungsergebnissen gegenüber unmittelbaren Abkömmlingen der Testperson; und die Offenlegung von Untersuchungsergebnissen (...) nach dem Tod der Testperson.Der vorliegende Artikel kommt zu folgenden Ergebnissen: Testresultate mit geringem Aussagewert sollten den Testpersonen auf Anforderung zugänglich gemacht werden; unter bestimmten Umständen sollten genetische Informationen Familienmitgliedern gegenüber offengelegt werden, auch ohne die Zustimmung der Testperson; obwohl die Rechte und Verantwortlichkeiten im Zusammenhang mit der Verpflichtung, das Vertrauensverhältnis gegenüber dem Patienten zu bewahren, normalerweise mit dem Tod des Patienten nicht verringert oder gar aufgehoben werden, könnten im vorliegenden Fall doch bestimmte Faktoren zu einer Verschiebung der Balance hin zu einer Offenlegung der Information führen; und gibt es zu diesem Fall eine Reihe von Varianten, in denen der Mediziner wegen eines Zusammenspiels zwischen den genannten Faktoren berechtigterweise die Testresultate des Vaters dem Sohn gegenüber offenlegen kann. This article explores a case in which a son asks researchers to disclose his deceased father's genetic test results. The preliminary results of the researchers' study suggest a 10% increase in risk of colon cancer associated with the presence of gene. The case raises issues related to at least three distinct policy areas: the disclosure of/ow-value information, the disclosure of research results to immediate biological relatives of research subjects, and the disclosure of research results after the death of a research subject. The article concludes the following: low-value test results should be made available upon request to research subjects, in some circumstances genetic information may be revealed to family members without the subjects' consent, while the rights and responsibilities associated with the obligation to maintain subjects' confidentiality may not generally diminish or end upon their death, certain factors in this case may shift that balance in favor of disclosure, and in this case, because of the interplay between the factors, there are a number of scenarios in which the researchers could justifiably disclose the father's test results to the son. (shrink)

Two articles in this issue of the Hastings Center Report (May‐June 2018) argue that having knowledge of genetic mutations can entail a moral responsibility to rescue others. In the lead article, Madison Kilbride, a philosopher at the Perelman School of Medicine, assigns to the patient, under certain conditions, a task physicians are prohibited from taking on without patient consent: to disclose a finding of a serious, clinically actionable genetic mutation to the patient's relatives who are likely to (...) have the same mutation. Kilbride emphasizes that the responsibility to family members that comes with such a finding has nothing to do with special obligations, duties to people with whom one has special relationships, such as people one lives with, works with, or loves. Rather, Kilbride maintains, the patient's duty to warn is grounded, in the principle of rescue; “another person … who just happens to be the patient's relative … is at risk of suffering serious harm.” In an article on disclosing incidental findings, Haley Sullivan and Benjamin Berkman, both at the National Institutes of Health, consider the ethical professional responsibility of those conducting genetic research on human subjects in low‐ and middle‐income countries, where many people are made vulnerable by the scarcity and inferiority of medical and other resources. (shrink)

Congenitally infertile woman such as those with Turner syndrome or Mayer Rokitansky-Kuster-Hauser syndrome have available the technologies of oocyte harvestation, cryropreservation, in-vitro fertilization, and gestational surrogacy in order to have genetically related offspring. Since congenital infertility results in a variety of experiences that impacts on nearly every aspect of a person’s life, in the future it is possible that these women might desire a congenitally infertile child through the use of preimplantation genetic diagnosis so as to share this common (...) bond. While infertility results in a relatively normal quality of life, it is morally wrong to necessitate the future use of infertility services with its variable success rate on a child. Also, whereas the woman has fundamental reproductive autonomy, she lacks the substantive autonomy regarding the specific characteristics of her child. Finally, the infertile community does exhibit a strong presence, but it lacks characteristics that define it as a culture. (shrink)

Is there an objective notion of disability and superability that can be employed in discussion of genetic alteration? In this article I suggest that there are such objective notions. Nevertheless, I point to factors which may distinguish between the morality of genetic therapy for disability and genetic enhancement policies. These factors include the importance of helping the worst off first, the reasonableness of risks relative to goals, and the importance of certain types of autonomy. Gibt es objektive (...) Begriffe von Körperbehinderung und körperlicher Überlegenheit, die in der Diskussion über genetische Veränderungen verwendet werden können? Der Beitrag behauptet, daß es solche objektiven Begriffe gibt. Trotzdem arbeitet die Autorin Gesichtspunkte heraus, die auf Unterschiede in der moralischen Beurteilung von gentherapeutischen Maßnahmen gegen Körperbehinderungen einerseits und von Verfahren zu genetischen Verbesserungen andererseits hinweisen. Zu diesen Gesichtspunkten gehören der Gedanke, daß den am schlimmsten Betroffenen zuerst geholfen werden muß, der Gedanke, daß zwischen den gesteckten Zielen und den Risiken, die zu ihrer Erreichung eingegangen werden, eine vernünftige Relation bestehen muß, und die Überlegung, daß bestimmten Arten von Autonomie eine sehr hohe Bedeutung zukommt. (shrink)

More than a decade of exacting scientific research involving paleontological fragments and ancient DNA has lately produced a series of pronouncements about a purportedly novel population of archaic hominins dubbed “the Denisova.” The science involved in these matters is both technically stunning and, socially, at times a bit reckless. Here I discuss the responsibilities which scientists incur when they make inductively risky pronouncements about the different relative contributions by Denisovans to genomes of members of apparent subpopulations of current humans. This (...) science is sensational: it is science which empirically speculates, to the public delight’s and entertainment, about scintillating topics such as when humans evolved, where we came from, and who else we were having sex with during our early hominin history. An initial characterization of sensational science emerges from my discussion of the case, as well as a diagnosis of an interactive phenomenon termed amplified inductive risk. (shrink)

Progress in precision medicine is being achieved through the design of clinical trials that use genetic biomarkers to guide stratification of patients and assignation to treatment or control groups. Genetic analysis of biomarkers is, therefore, essential to complete their objectives, and this involves the study of biological samples from donor patients that have been recruited according to criteria previously established in the design of the clinical trial. Nevertheless, it is becoming very common that, in the solicitation of biological (...) samples, purposes that are beyond the objectives of the stated therapeutic trial research are introduced, like the development of ill-explained exploratory studies or the use in unspecified future research. In the digital era, the sequencing of patients’ DNA needs to be considered as a serious security matter, not only for the patients, but also for their relatives. Genetic information may be easily stored, even forever, in digital files. This engenders a permanent risk of being stolen or misused in many ways. Furthermore, re-identification of sample donors is technically feasible through their genetic data. For these reasons, genetic analysis of samples collected in clinical trials should be restricted to the accomplishment of their main objectives or well justified goals. (shrink)

Ethical questions about confidentiality arise when patients refuse to inform relatives who are at risk of a genetic condition. Specifically, healthcare providers may struggle with the permissibility of breaching confidentiality to warn patients’ at-risk relatives. In exploring this issue, several authors have converged around the idea that genetic cases differ from non-genetic cases (e.g., involving a threat of violence or the spread of an infectious disease) along two related dimensions: (1) In genetic cases, the (...) risk of harm is already present in an at-risk third party, whereas in non-genetic cases, it is not; and (2) In genetic cases, the patient does not create a risk of harm to a third party, whereas in non-genetic cases, the patient does. I argue that these distinctions do not exclusively differentiate genetic from non-genetic cases and should not bear on the permissibility of breaching confidentiality. Instead, such determinations should be based on other considerations. (shrink)

BackgroundMany genetic counseling studies have focused on anxiety status because clients of GC often feel anxious during their visits. Metacognition is known to be one of the causes of having an inappropriate thinking style. In this study, we examined the relationship between anxiety and the metacognitive status of GC clients according to their characteristics.MethodsThe participants were 106 clients who attended their first GC session in our hospital from November 2018 to March 2021. The survey items were the clients’ characteristics, (...) anxiety status at the time of the visit, and metacognitive status.ResultsHigh state anxiety and high trait anxiety were observed in 34.9 and 11.3% of clients, respectively. Clients who were a relative or had a family history were significantly more likely to have high state anxiety. As for metacognitive status, only negative beliefs about thoughts concerning uncontrollability and danger were associated with having an anxiety status. Furthermore, multivariate analysis showed that negative beliefs about thoughts concerning uncontrollability and danger were an independent determinant of higher state anxiety, but not being a relative or having a family history. Metacognitive status scores were significantly lower in clients than in the control group.ConclusionState anxiety was shown to be more dependent on negative beliefs about thoughts concerning uncontrollability and danger of GC clients than their characteristics such as being a relative or having a family history. The results of this study will contribute to the development of new GC psychosocial support measures to address the anxiety of GC clients. (shrink)