A decade after the completion of the Human Genome Project, the widespread appeal of personalized genomic medicine's vision and potential virtues for health care remains compelling. Advocates argue that our current medical regime “is in crisis as it is expensive, reactive, inefficient, and focused largely on one size fits all treatments for events of late stage disease.” What is revolutionary about this kind of medicine, its advocates maintain, is that it promises to resolve that crisis by simultaneously (...) increasing the ability to be “personalized,” “predictive,” “preventive,” and “participatory.” Some call personalized genomic medicine “P4 Medicine,” inscribing these cardinal virtues into the movement's name. All of these putative virtues have interesting implications for the future of health care. In this essay, we are especially interested in the claims that personalized medicine will lead to a more “participatory” or “patient‐centered” approach to health care, in which patients are “empowered” to take more personal control over their care. The rhetoric of patient empowerment is nothing new in health care, but personalized medicine is an interesting case study because it portrays empowerment as one of its key virtues and as a mechanism for fixing the health care “crisis.”. (shrink)

Much has been published about the ethical issues encountered by clinicians in genetics/genomics, but those experienced by clinical laboratory scientists are less well described. Clinical laboratory scientists now frequently face navigating ethical problems in their work, but how they should be best supported to do this is underexplored. This lack of attention is also reflected in the ethics tools available to clinical laboratory scientists such as guidance and deliberative ethics forums, developed primarily to manage issues arising within the clinic.We explore (...) what ethical issues are being experienced by clinical scientists, how they think such issues could be best analysed and managed, and whether their practice might be enhanced by more situated approaches to ethics deliberation and practice such as ethical preparedness. From thematic analysis of cases presented by clinical scientists at a specially convened meeting of the UK Genethics Forum, we derived three main ethical themes: (1) the redistribution of labour and responsibilities resulting from the practice of genomic medicine; (2) the interpretation and certainty of results and (3) the proposal that better standardisation and consistency of ethical approaches (for example, more guidelines and policy) could resolve some of the challenges arising.We argue that although standardisation is important for promoting shared understandings of good (including ethical) practice, supplementary approaches to enhance and sustain ethical preparedness will be important to help clinical scientists and others in the recently expanded genetic/genomic medicine environment foster quality ethical thinking. (shrink)

Clinical practice and research are governed by distinct rules and regulations and have different approaches to, for example, consent and providing results. However, genomics is an example of where research and clinical practice have become codependent. The 100 000 genomes project is a hybrid venture where a person can obtain a clinical investigation only if he or she agrees to also participate in ongoing research—including research by industry and commercial companies. In this paper, which draws on 20 interviews with professional (...) stakeholders involved in 100kGP, we investigate the ethical issues raised by this project’s hybrid nature. While some interviewees thought the hybrid nature of 100kGP was its vanguard, interviewees identified several tensions around hybrid practice: how to decide who should be able to participate; how to determine whether offering results might unduly influence participation into wide-ranging but often as yet unknown research and how to ensure that patients/families do not develop false expectations about receiving results. These areas require further debate as 100kGP moves into routine healthcare in the form of the national genomic medicine service. To address the tensions identified, we explore the appropriateness of Faden et al.’s framework of ethical obligations for when research and clinical care are completely integrated. We also argue that enabling ongoing transparent and trustworthy communication between patients/families and professionals around the kinds of research that should be permitted in 100kGP will help to understand and ensure that expectations remain realistic. Our paper aims to encourage a focused discussion about these issues and to inform a new ‘social contract’ for research and clinical care in the health service. (shrink)

The practice of recontact in genomic medicine has the power to help rectify long‐standing inequities in genetic testing. However, if not delivered systematically, recontacting practices also have the potential to reinforce these same inequities. Recontact, which occurs when contact between a clinician and patient is reinitiated after a relationship has ended, is often in search of or in response to updated interpretation or results. Currently, recontact is happening in a patient‐driven and ad hoc manner, undermining its potential to (...) benefit all patients. In this paper, the authors position justice as an additional argument in favor of systematic recontact and an argument against the predominantly patient‐initiated model. They argue that patients from equity‐deserving groups should be early beneficiaries of an emerging responsibility to recontact patients. The authors share illustrative clinical vignettes and propose role‐specific and systems‐level solutions to rightfully position recontact as a tool to promote a more equitable clinical genomics future. (shrink)

Galasso (2024) helpfully puts her finger on what is perhaps the most troubling feature of precision medicine research today: Champions of the science are targeting communities of color and other ma...

In their article, Sahan and colleagues have presented ethical dilemmas faced by clinical scientists working in genomics.1 This is a welcome development since thus far little has been published on the ethical issues faced by clinical scientists in general. In their article, the authors present the three themes which emerged from discussions with clinical scientists in respect to three case studies: ‘(1) the redistribution of labour and responsibilities resulting from the practice of genomic medicine; (2) the interpretation and (...) certainty of results and (3) the proposal that better standardisation and consistency of ethical approaches (for example, more guidelines and policy) could resolve some of the challenges arising’.1 One theme which appeared not to emerge is that of ethics education received by clinical scientists during their training, and this is the theme on which this commentary will focus. As noted elsewhere, ‘Clinical Scientists receive some lectures on clinical and research ethics as part of their training, but it amounts to only to a couple of hours of lectures (references omitted)’.2 The usual route to becoming a clinical scientist involves undertaking the 3-year postgraduate Scientist Training Programme (STP), though the ‘equivalence’ route is quite commonly taken by clinical scientists working in …. (shrink)

Purpose: This review identifies the prominent topics in the literature pertaining to the ethical, legal, and social issues raised by research investigating personalized genomic medicine. Methods: The abstracts of 953 articles extracted from scholarly databases and published during a 5-year period were reviewed. A total of 299 articles met our research criteria and were organized thematically to assess the representation of ELSI issues for stakeholders, health specialties, journals, and empirical studies. Results: ELSI analyses were published in both scientific (...) and ethics journals. Investigational research comprised 45% of the literature reviewed and the remaining 55% comprised normative analyses. Traditional ELSI concerns dominated the discourse including discussions about disclosure of research results. In fact, there was a dramatic increase in the number of articles focused on the disclosure of research results and incidental findings to research participants. Few papers focused on particular disorders, the use of racial categories in research, international communities, or special populations. Conclusion: Considering that strategies in personalized medicine increasingly target individuals’ unique health conditions, environments, and ancestries, further analysis is needed on how ELSI scholarship can better serve the increasingly global, interdisciplinary, and diverse PGM research community. (shrink)

Since the late 1980s, the human genetics and genomics research community has been promising to usher in a “new paradigm for health care”—one that uses molecular profiling to identify human genetic variants implicated in multifactorial health risks. After the completion of the Human Genome Project in 2003, a wide range of stakeholders became committed to this “paradigm shift,” creating a confluence of investment, advocacy, and enthusiasm that bears all the marks of a “scientific/intellectual social movement” within biomedicine. Proponents of this (...) movement usually offer four ways in which their approach to medical diagnosis and health care improves upon current practices, arguing that it is more “personalized,” “predictive,” “preventive,” and “participatory” than the medical status quo. Initially, it was personalization that seemed to best sum up the movement's appeal. By 2012, however, powerful opinion leaders were abandoning “personalized medicine” in favor of a new label: “precision medicine.” The new label received a decisive seal of approval when, in January 2015, President Obama unveiled plans for a national “precision medicine initiative” to promote the development and use of genomic tools in health care. (shrink)

In Sahan et al ’s article,1 they present the ethical challenges faced by clinical laboratory scientists in genetic medicine, including labour allocation and responsibility, interpretation and accuracy of results with new technologies, and the need for better standardisation and ethical consistency. At the same time, they also propose a potential solution to the aforementioned challenges: ethical preparedness(EP). Along with their vivid case discussions and insightful analysis, I would like to propose two more points that are worth further examination and (...) discussion to aid stakeholders in better comprehending the ethical issues that clinical laboratory scientists face in the practice of genetic medicine. The case 1 reported by Sahan et al raises concerns about who should be responsible for tracking families or individuals with genetic results, particularly in the absence of mainstream services to track future risks. However, this should not be a factor influencing the decision to inform gene carriers. If there is a clear division of responsibilities in current practice, clinical laboratory scientists can report detected gene carriers without psychological burden. However, the decision to report gene carriers should be based on who is being served when clinical laboratory scientists face genetic problems in clinical practice and who is being considered when …. (shrink)

Genomic medicine has the potential to contribute to the development of an array of novel technologies within the clinical armoury, making possible early detection and management of high-risk conditions such as cancer. While significant impact has already been felt in the context of rare inherited single gene disorders, much of the advancement in patient care through genomic medicine more broadly is going to be made possible by research involving large data sets that enable analyses of multiple (...) genetic variants that contribute to risk of common diseases. 1 As well as informing diagnosis and treatment of these diseases, these advances will support prediction and prevention. Considering risk prediction, combining data from multiple variants can produce a polygenic (or integrated) score (PGS/IGS). This will provide more accurate prediction than simply relying on environmental risk factors. While still in their early stages of development and implementation, it is clear that translation... (shrink)

The development of gene expression profiling and next-generation sequencing technologies have steered oncogenomics to the forefront of precision medicine. This created a need for harmonious cooperation between clinicians and researchers to increase access to precision oncology, despite multiple implementation challenges being encountered. The aim is to apply personalised treatment strategies early in cancer management, targeting tumour subtypes and actionable gene variants within the individual’s broader clinical risk profile and wellbeing. A knowledge-generating database linked to the South African Medical Research (...) Council’s Genomic Centre has been created for the application of personalised medicine, using an integrated service and research approach. Insights gained from patient experiences related to tumour heterogeneity, access to targeted therapies and incidental findings of pathogenic germline variants in tumour DNA, provided practice-changing evidence for the implementation of a cost-minimisation pathology-supported genetic testing strategy. Integrating clinical care with genomic research through data sharing advances personalised medicine and maximises precision oncology benefits. (shrink)

The guiding premise from which this special report begins is the conviction and hope that justice is at the normative heart of medicine and that it is the perpetual task of bioethics to bring concerns of justice to bear on medical practice. On such an account, justice is medicine's lifeblood, that by which it contributes to life as opposed to diminishing it. It is in this larger, historical, intersectional, critical, and ethically minded context that we must approach pressing (...) questions facing medicine, including the question of the import and role of genomic knowledge for human life. The second premise is that, at least in principle, the knowledge generated by genomics can be a gift or a weight, or both at the same time. That is to say that, on the one hand, genomic knowledge is a gift, creating novel insights into the genetic drivers of disease and into the geographical paths of our ancestors. And on the other hand, it is a weight, creating new obligations, new forms of social classification, and new forms of surveillance. Because it is in many ways the “common sense” of the day that genomic knowledge is a gift, this special report, which contains nine essays, concentrates on the ways in which such knowledge can be a weight, a weight that has the potential to thwart—and historically has thwarted—medicine from genuinely advancing justice . (shrink)

This paper argues that it will be important for new genomic technologies to recognize the limits of traditional approaches to informed consent, so that other-regarding implications of genomic information can be properly contextualized and individual rights respected. Respect for individual autonomy will increasingly require dynamic consideration of the interrelated dimensions of individual and broader community interests, so that the interests of one do not undermine fundamental interests of the other. In this, protection of individual rights will be a (...) complex interplay between individual and community concerns. (shrink)

We have all heard a refrain much like this one over the last decade, increasingly so, as the cost of genetic sequencing has been drastically reduced with improvements in associated techniques and technologies. Already, discoveries are being made in laboratories that can help doctors determine from which drug a particular patient will receive the most efficacious treatment. The working presumption is that, eventually, individuals’ genetic sequence information will be included in each of their personal medical records.

In lieu of an abstract, here is a brief excerpt of the content:Kennedy Institute of Ethics Journal 14.1 (2004) 47-54 [Access article in PDF] Ethical Guidelines for Human Embryonic Stem Cell Research*(A Recommended Manuscript) Adopted on 16 October 2001Revised on 20 August 2002 Ethics Committee of the Chinese National Human Genome Center at Shanghai, Shanghai 201203 Human embryonic stem cell (ES) research is a great project in the frontier of biomedical science for the twenty-first century. Be- cause the research involves (...) the use of human embryos, it triggers serious debate on ethical issues. Opponents consider the embryo to be an early form of human life that should be respected and not destroyed. However, the majority of scientists support embryonic stem cell research, believing that it offers good prospects for the treatment of diseases that have remained incurable until now and so will benefit humankind. The Ethics Committee of the Department of Ethical, Legal, and Social Implications of the Chinese National Human Genome Center at Shanghai seriously discussed the ethical debate initiated by embryonic stem cell research. We concluded that we should support the scientists of our country in actively carrying out human embryonic stem cell research for the noble cause of "medicine being a beneficent art." For the healthy and orderly development of human embryonic stem cell research in our country, we put forward the following recommended Ethical Guidelines for Human Embryonic Stem Cell Research as a reference for leaders, administrative departments, and related scientists. Preface Article 1. Human embryonic stem cells are the primitive cells that play the main role in the growth and development of a human body. These [End Page 47] primitive cells have the potential for infinite proliferation, self-renewal, and multi-directional differentiation. If scientists can discover the mechanism of differentiation of human embryonic stem cells, it will be possible to induce differentiation of human embryonic stem cells to form various types of human cells for clinical cell therapy. If human embryonic stem cell research can be integrated with modern biomedical engineering techniques, it also will be possible to make repair and replacement of human tissues and organs a reality. Article 2. There are two ways to classify human embryonic stem cells. One way is to classify them according to their potential for differentiation. There could be three kinds of stem cells: totipotent stem cells, pluripotent stem cells, and unipotent stem cells.A totipotent stem cell has the potential to develop into a whole individual. It can differentiate into the more than 200 cell types in the whole body, construct any tissue or organ of the body, and finally develop into a whole individual. The fertilized egg and the cleavage cells at the very early stage of embryonic development are totipotent stem cells.A pluripotent stem cell has the potential to differentiate into many cell types derived from the three embryonic layers. However, it has lost the capacity to develop into a complete organism.A unipotent stem cell is derived from the further differentiation of the pluripotent stem cell. It can differentiate only into one cell type such as a hematopoietic stem cell, neural stem cell, and others.The other way is to classify human stem cells according to their source. There could be two kinds of human stem cells: embryonic stem cells and tissue stem cells (also called adult stem cells). The former involves experimentation with embryos, which has serious ethical implications. Ethical issues associated with the latter are mainly expressed in the various opinions regarding the allocation of health resources. Article 3. Human embryonic stem cells are the group of cells called the blastocyst inner cell mass during the early stage of embryonic development. They are the main source of totipotent stem cells, and hence the focal and hot point in stem cell research. Studies on the clinical application of embryonic stem cells probably will involve use of the somatic cell nucleus transfer (SCNT) technique, which destroys the early human embryo. At present, the ethical and moral debate is very serious in human embryonic stem cell research regarding whether the research will develop... (shrink)

We read with great interest the commentaries submitted in response to our paper about clinical scientists and the role of ethical preparedness1. The responses raised some important themes that intersect with those discussed in our paper, and we are grateful for the opportunity to expand on them. Pruski2 highlights the importance of ethics education for clinical scientists, noting insufficient provision of such teaching within the clinical science profession. This gap means that scientists completing higher specialist training, who now encounter more (...) complex ethical challenges, are not benefitting from equivalent ethics education standards enjoyed by their counterparts in medical professions. We agree that clinical scientists deserve access to quality education in ethics in order to develop their skills in this area. Alongside a formal element to education, we see ethical preparedness (EP) as advocating for more informal education opportunities. This can be facilitated through the encouragement and creation of space (both physical and metaphorical) to discuss ethical issues as they arise in practice and explore potential scenarios in a supportive and judgement-free environment. Cultivating such an environment plays is crucial to develop professional skills in navigating ethical challenges, promoting a greater sense of collective responsibility and capability to do justice to ethical issues encountered. Van Steijvoort et al 3 draw …. (shrink)

Human genetics has uncovered a vast trove of medically relevant changes in our genomes—variants and mutations that are both far more common and difficult to interpret than experts anticipated. What will this mean as we move into an era of genomic or “precision” medicine? For over a century the overriding goal of human genetics was to explain the inheritance of traits and conditions that hailed from disciplines like medicine, psychology, and criminology. Yet today, genomics research is calling (...) prevailing categories of human illness and difference into question. Genetic mutations are increasingly used to reclassify disease, disability, and developmental difference—a process I call genomic designation. In recent decades, this has led to the formation of support groups, foundations, specialist clinics, and dedicated literatures for genomically designated conditions like the XXX, NGLY1, Fragile X, and 1p36 Deletion Syndromes. Drawing heavily on the case of 22q11.2 Deletion Syndrome, this paper explains how a genetic test result can radically alter the way a patient is understood and treated. Finding a 22q11.2 microdeletion can lead patients, parents, and caregivers to recast other diagnoses as mere symptoms of an underlying genetic disorder. A 22q11.2DS diagnosis can also redirect medical judgment and practice towards evaluations and even interventions that were not clinically indicated. Finally, a genomically designated diagnosis like 22q11.2DS can realign the very boundary between the normal and the pathological, leading experts and caregivers to reframe clinically nonsignificant findings like an IQ of eighty-seven as the symptom of a genetic disorder. In this way, the growing avalanche of positive genetic test results is disrupting classification and practice in a wide range of disciplines, bringing new populations under the gaze of medical genetics in the process. I conclude by discussing a few salient implications for bioethics and the social studies of science and medicine. (shrink)

Numerous groups race to discover the gene biomarker whose alteration alone is indicative of a particular disease in all humans. Biomarkers are selected from the most frequently altered genes in large population cohorts. However, thousands of other genes are simultaneously affected, and, in each person, the same disease results from a unique, never-repeatable combination of gene alterations. Therefore, our Genomic Fabric Paradigm (GFP) switches the focus from the alteration of one particular gene to the overall change in selected groups (...) of functionally related genes. Biomarkers are of little therapeutic value, their high alterability indicating low protection by the homeostatic mechanisms as for minor players. Instead of these most alterable genes in all patients, GFP identifies in each patient the genes whose highly protected expression governs major functional pathways by controlling the expression of numerous other genes. Smart manipulation of such (commander) genes would have the maximum therapeutic benefit not for everybody but for the treated person. The genomic fabric is defined as the transcriptome associated with the most interconnected and stably expressed network of genes responsible for a particular functional pathway. The fabric exhibits specificity with respect to race/strain, sex, age, tissue/cell type, and lifestyle and environmental factors. It remodels during development, progression of a disease, and in response to external stimuli. GFP is powered by mathematically advanced analytical tools whose application is illustrated by reprocessing data from previously published gene expression experiments. (shrink)

The sequencing of the human genome and decreasing costs of sequencing technology have led to the notion of ‘personalized medicine’. This has been taken by some authors to indicate that personalized medicine will provide individualized treatments solely based on one’s DNA sequence. We argue this is overly optimistic and misconstrues the notion of personalization. Such interpretations fail to account for economic, policy and structural constraints on the delivery of healthcare. Furthermore, notions of individualization based on genomic data (...) potentially take us down the road of genetic reductionism obscuring the role of environmental factors in disease and ill health. We propose that one should see personalized medicine as a way of using personal genomic information to stratify individuals into subpopulations and suggest that personalized medicine be seen within a broader idea of personalized healthcare, reflecting healthcare that integrates personal genomic data into cultural, environmental and personal contexts. (shrink)

This paper problematizes the precision medicine approach embraced by the All of Us Research Program (US) and by Genomics England (UK) in terms of benefits distribution, by arguing that current “diversity and inclusion” efforts do not prevent exclusiveness, unless the framing and scope of the projects are revisited in public health terms. Grounded on document analysis and fieldwork interviews, this paper analyzes efforts to address potential patterns of exclusion upstream (from participating in precision medicine research) and downstream (from (...) benefitting from precision medicine outputs). It argues that efforts for inclusion upstream are not corresponded downstream, and this unbalance jeopardizes the equitable capacities of the projects. It concludes that enhanced focus on socio-environmental determinants of health and aligned public health interventions as precision medicine outputs would be to the benefit of all and especially of those who are most at risk of (upstream as well as downstream) exclusion. (shrink)

The genome of two completely unrelated individuals is quite similar apart from minor variations called single nucleotide polymorphisms which contribute to the uniqueness of each and every person. These single nucleotide polymorphisms are of great interest clinically as they are useful in figuring out the susceptibility of certain individuals to particular diseases and for recognizing varied responses to pharmacological interventions. This gives rise to the idea of ‘personalized medicine’ as an exciting new therapeutic science in this genomic era. (...) Personalized medicine suggests a unique treatment strategy based on an individual’s genetic make-up. Its key principles revolve around applied pharmaco-genomics, pharmaco-kinetics and pharmaco-proteomics. Herein, the ethical and legal aspects of personalized medicine in a new genomic era are briefly addressed. The ultimate goal is to comprehensively recognize all relevant forms of genetic variation in each individual and be able to interpret this information in a clinically meaningful manner within the ambit of ethical and legal considerations. The authors of this article firmly believe that personalized medicine has the potential to revolutionize the current landscape of medicine as it makes its way into clinical practice. (shrink)

Barbados is a center of international genetic research premised on race. Drawing on ethnographic fieldwork following Johns Hopkins studies carried out in Barbados, this article explores this travel for research. This biomedical science relies on a conflicting significance of Barbados: as a site of suffering, due to the disparities of disease, and, conversely, a site of ease, playing on desires and pleasures of escaping too much asceticism in biomedicine. For the American researchers, Barbados becomes a locus of desire to ethically (...) address the African diaspora without the quandaries of accusations and recriminations experienced in carrying out such work in urban America. The concept of cathartic science is used to describe an endeavor that creates a controlled space to know and act on some perceived sufferer without risk of being complicit in the suffering. These medical migrations of researchers to Barbados are paralleled by Bajan families participating in the American studies as a kind of proxy medical migration to the US, bitterly reflecting on the care available to them at home. This article explores the motives of this mutual travel, as a biomedicalized Barbados becomes a spectral figure for patients and researchers fraught with race, injustice, and desire. The article extends the concept of cathartic science from genomics of race to medical anthropology to foreground the desires and anxieties of any science of suffering. (shrink)

The increasing availability of large‐scale, complex data has made research into how human genomes determine physiology in health and disease, as well as its application to drug development and medicine, an attractive field for artificial intelligence (AI) approaches. Looking at recent developments, we explore how such approaches interconnect and may conflict with needs for and notions of causal knowledge in molecular genetics and genomic medicine. We provide reasons to suggest that—while capable of generating predictive knowledge at unprecedented (...) pace and scale—if and how these approaches will be integrated with prevailing causal concepts will not only determine the future of scientific understanding and self‐conceptions in these fields. But these questions will also be key to develop differentiated policies, such as for education and regulation, in order to harness societal benefits of AI for genomic research and medicine. (shrink)

The 21st century has been revolutionary for the field of clinical genomics, with major advancements and breakthroughs over the years. It is now considered an instrumental tool in clinical and preventive medicine and has been used on a day-to-day basis to complement current clinical practice. However, with advancements in genomics comes greater bioethical concerns, which becomes increasingly complex with more cutting-edge technology. Some of the major ethical concerns include obtaining informed consent, possibility for genetic enhancements and eugenics, genomic (...) equity and potential discrimination and cloning. It is imperative that we appreciate the benefits of genomic medicine in complementing traditional practices, identify and address the ethical concerns with relation to the practice of genomic medicine, and to ensure a common goal of improving human lives. With these in mind, the practice of genomics can have maximum impact in the collective health of the population, with greater benefit to all. (shrink)

Targeted modifications of the human epigenome, epigenome editing (EE), are around the corner. For EE, techniques similar to genome editing (GE) techniques are used. While in GE the genetic information is changed by directly modifying DNA, intervening in the epigenome requires modifying the configuration of DNA, for example, how it is folded. This does not come with alterations in the base sequence (‘genetic code’). To date, there is almost no ethical debate about EE, whereas the discussions about GE are voluminous. (...) Our article introduces EE into bioethics by translating knowledge from science to ethics and by comparing the risks of EE with those of GE. We, first (I), make the case that a broader ethical debate on EE is due, provide scientific background on EE, compile potential use-cases and recap previous debates. We then (II) compare EE and GE and suggest that the severity of risks of novel gene technologies depends on three factors: (i) the choice of an ex vivo versus an in vivo editing approach, (ii) the time of intervention and intervention windows and (iii) the targeted diseases. Moreover, we show why germline EE is not effective and reject the position of strong epigenetic determinism. We conclude that EE is not always ethically preferable to GE in terms of risks, and end with suggestions for next steps in the current ethical debate on EE by briefly introducing ethical challenges of new areas of preventive applications of EE (III). (shrink)

Cytogenetic research has had a major impact on the field of reproductive medicine, providing an insight into the frequency of chromosomal abnormalities that occur during gametogenesis, embryonic development and pregnancy. In humans, aneuploidy has been found to be relatively common during fetal life, necessitating prenatal screening of high‐risk pregnancies. Aneuploidy rates are higher still during the preimplantation stage of development. An increasing number of IVF laboratories have attempted to improve pregnancy rates by using preimplantation genetic diagnosis (PGD) to ensure (...) that the embryos transferred to the mother are chromosomally normal. This paper reviews some of the techniques that are key to the detection of aneuploidy in reproductive samples including comparative genomic hybridization (CGH). CGH has provided an unparalleled insight into the nature of chromosome imbalance in human embryos and polar bodies. The clinical application of CGH for the purposes of PGD and the future extensions of the methodology, including DNA microarrays, are discussed. BioEssays 25:289–300, 2003. © 2003 Wiley Periodicals, Inc. (shrink)

Sixty‐one million Americans and approximately a billion people worldwide live with some form of disability that limits one or more major life activities. The field of precision medicine continues to grapple with how to best serve disability communities. In this paper, we suggest that precision medicine faces an ethical tension between its goal to treat or cure disabling conditions and views that consider disability as a marginalized identity. We appeal to the concepts of recognition justice and distributive justice (...) to argue that the ELSI community should take a more proactive role in promoting disability inclusion in precision medicine's practice and research. We also highlight two priorities for the ELSI community moving forward: facilitating greater collaboration between genetics and genomic professionals and disability communities and advocating for inclusive research design and disability accommodations in the research process. (shrink)

Effectively addressing ethical issues in precision medicine research in Africa requires a holistic social contract that integrates biomedical knowledge with local cultural values and Indigenous knowledge systems. Drawing on African epistemologies such as ubuntu and ujamaa and on our collective experiences in genomics and big data research for sickle cell disease, hearing impairment, and fragile X syndrome and the project Public Understanding of Big Data in Genomics Medicine in Africa, we envision a transformative shift in health research data (...) governance in Africa that could help create a sense of shared responsibility between all stakeholders in genomics and data‐driven health research in Africa. This shift includes proposing a social contract for genomics and data science in health research that is grounded in African communitarianism such as solidarity, shared decision‐making, and reciprocity. We make several recommendations for a social contract for genomics and data science in health, including the coproduction of genomics knowledge with study communities, power sharing between stakeholders, public education on the ethical and social implications of genetics and data science, benefit sharing, giving voice to data subjects through dynamic consent, and democratizing data access to allow wide access by all research stakeholders. Achieving this would require adopting participatory approaches to genomics and data governance. (shrink)

Genomics is increasingly becoming an integral component of health research and clinical care. The perceived difficulties associated with genetic research involving Aboriginal and Torres Strait Islander people mean that they have largely been excluded as research participants. This limits the applicability of research findings for Aboriginal and Torres Strait Islander patients. Emergent use of genomic technologies and personalised medicine therefore risk contributing to an increase in existing health disparities unless urgent action is taken. To allow the potential benefits (...) of genomics to be more equitably distributed, and minimise potential harms, we recommend five actions: ensure diversity of participants by implementing appropriate protocols at the study design stage; target diseases that disproportionately affect disadvantaged groups; prioritise capacity building to promote Indigenous leadership across research professions; develop resources for consenting patients or participants from different cultural and linguistic backgrounds; and integrate awareness of issues relating to Indigenous people into the governance structures, formal reviews, data collection protocols and analytical pipelines of health services and research projects. (shrink)

Genomics, Populations, and Society, a new volume in the Genomic and Precision Medicine in Clinical Practice series, considers the vast and thorny web of ELSI topics in genomics, from bioethics to healthcare applications, healthcare economics, genomic data management, and population dynamics. Emphasis is placed on the impact of rapid genomic advances on ethical, sociocultural and lifestyle dimensions. Healthcare and health economics topics include genomics and digital health, genome editing, and genomics and infectious disease management. Legal issues (...) related to data ownership, equity, access, probity, consent, and confidentiality are also discussed in-depth, along with sociocultural topics such as community engagement, consanguinity, and more. Here, a range of readers from researchers to clinicians, policy administrators, lawyers, economists and social scientists will discover carefully crafted, synthesized discussions on ELSI topics in genomics to power new scientific advances and genomic medicine implementation. (shrink)

Significant advancements towards a future of big data genomic medicine, associated with large-scale public dataset repositories, intensify dilemmas of genomic privacy. To resolve dilemmas adequately, we need to understand the relative force of the competing considerations that make them up. Attitudes towards genomic privacy are complex and not well understood; understanding is further complicated by the vague claim of ‘genetic exceptionalism’. In this paper, we distinguish between consequentialist and non-consequentialist privacy interests: while the former are concerned (...) with harms secondary to exposure, the latter represent the interest in a private sphere for its own sake, as an essential component of human dignity. Empirical studies of attitudes towards genomic privacy have almost never targeted specifically this important dignitary component of the privacy interest. In this paper we first articulate the question of a non-consequentialist genomic privacy interest, and then present results of an empirical study that probed people’s attitudes towards that interest. This was done via comparison to other non-consequentialist privacy interests, which are more tangible and can be more easily assessed. Our results indicate that the non-consequentialist genomic privacy interest is rather weak. This insight can assist in adjudicating dilemmas involving genomic privacy. (shrink)

Scientists and clinicians are starting to translate genomic discoveries from research labs to the clinical setting. In the process, big data genomic technologies are both a risk to individual privacy and a benefit to personalized medicine. There is an opportunity to address the social and ethical demands of various stakeholders and shape the adoption of diagnostic genome technologies. We discuss ethical and practical issues associated with the networking of genomics by comparing how the European Union and North (...) America understand and practice notions of privacy and consent in research. An overview of international policy suggests the embedding of genomics within digital networks and the Internet creates conditions that challenge the management of privacy and consent in the age of big data. The risks of re-identification, informational harms, and data security vulnerabilities are issues that need to be better addressed in the clinical setting to reconcile the unpredictable pathway of research and practice in the networked information society. (shrink)

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

The promise of genomic medicine lies in the opportunity to improve health outcomes via a personalized approach to management, grounded in genetic and genomic variation unique to an individual. However, disparities and inequities mar this remarkable landscape of genomic innovation. Prior efforts to understand these inequities have focused on populations for which genetic testing is relatively protocolized or where test utility varies greatly by ancestry groups, where equitable outcomes are more clearly defined. We therefore consider the (...) current landscape of rare disease genomics, in which diagnostic approaches vary widely and utility remains to be fully understood, and suggest a path forward: how ecosocial theory may be used to guide novel equity‐focused initiatives that incorporate illness narratives to improve population health. We present examples of narrative medicine in rare disease and reimagine the role this discipline may play in genomic sequencing studies, toward incorporation of the unique illness narrative into clinical genetics and genomics practice. Approaches that broaden the definitions of disease and of outcomes of interest will force the field to grapple with its racist history and begin to advance health equity and promote justice so that genomic medicine may truly deliver on its promise. (shrink)

In this article, we discuss epistemological limitations relating to the use of ethnoracial categories in biomedical research as devised by the Office of Management and Budget’s institutional guidelines. We argue that the obligation to use ethnoracial categories in genomics research should be abandoned. First, we outline how conceptual imprecision in the definition of ethnoracial categories can generate epistemic uncertainty in medical research and practice. Second, we focus on the use of ethnoracial categories in medical genetics, particularly genomics-based precision medicine, (...) where ethnoracial identity is understood as a proxy for medically relevant differences among individuals. Notably, extensive criticisms have been made already against the genetic interpretation of races, but, nonetheless, the concept of race remains a key element of contemporary genomics. This motivates us to explore possible reasons why such criticisms may have been ineffective in redirecting attention to other (non-race-based) ways of controlling for human variability. We contend that popular arguments against the idea that human races have a genetic basis, though convincing in many respects, are not sufficient to exclude the pragmatic use of race and ethnicity as proxies for genetic variability related to complex phenotypes. Finally, we provide two further arguments to support the idea that ethnoracial categories are unlikely to provide meaningful insights into medical genetics, which implies that even the interpretation of race as a useful tool to stratify disease risk is unwarranted. (shrink)

Research uses of human bodies maintained by mechanical ventilation after being declared dead by neurological criteria, were first published in the early 1980s with a renewed interest in research on the newly or nearly dead occurring in about last decade. While this type of research may take many different forms, recent technologic advances in genomic sequencing along with high hopes for genomic medicine, have inspired interest in genomic research with the newly dead. For example, the Genotype-Tissue (...) Expression program through the National Institutes of Health aims to collect large numbers of diverse human tissues with the eventual goal of elucidating the genetic bases of common diseases through a better understanding of the relationship between genetic variation and gene expression. (shrink)

Realizing the benefits of translating psychiatric genomics research into mental health care is not straightforward. The translation process gives rise to ethical challenges that are distinctive from challenges posed within psychiatric genomics research itself, or that form part of the delivery of clinical psychiatric genetics services. This article outlines and considers three distinct ethical concerns posed by the process of translating genomic research into frontline psychiatric practice and policy making. First, the genetic essentialism that is commonly associated with the (...) genomics revolution in health care might inadvertently exacerbate stigma towards people with mental disorders. Secondly, the promises of genomic medicine advance a narrative of individual empowerment. This narrative could promote a fatalism towards patients' biology in ways that function in practice to undermine patients' agency and autonomy, or, alternatively, a heightened sense of subjective genetic responsibility could become embedded within mental health services that leads to psychosocial therapeutic approaches and the clinician-patient therapeutic alliance being undermined. Finally, adopting a genomics-focused approach to public mental health risks shifting attention away from the complex causal relationships between inequitable socio-economic, political, and cultural structures and negative mental health outcomes. The article concludes by outlining a number of potential pathways for future ethics research that emphasizes the importance of examining appropriate translation mechanisms, the complementarity between genetic and psychosocial models of mental disorder, the implications of genomic information for the clinician-patient relationship, and funding priorities and resource allocation decision making in mental health. (shrink)

The rapid advances in genomics over the last decade have come to fruition amid intense public discussions of justice in medicine and health care. While much emphasis has been placed on increasing diversity in genomics research participation, an overly narrow focus on recruitment eschews recognition of the disparities in health care that will ultimately shape access to the benefits of genomic medicine. In this essay, we suggest that achieving a just genomics, both now and in the future, (...) requires an explicit ELSI of translation—normative and pragmatic scholarship that embraces the interconnectedness of research and clinical care and centers the obligations of researchers, institutions, and funders to mitigate inequities throughout the translational pipeline. We propose core principles to guide an ELSI of translation and to ensure that this work balances the value of the generalizable knowledge that genomics research generates and the value of the individuals and communities who make this research possible. (shrink)

Individualized care and equality of care remain two imperatives for formulating any scientifically and morally informed public health policy. Yet both continue to be elusive goals, even in the age of genomics, proteomics, and evidence-based medicine. Nonetheless, with the rapid growth and improvement of human biotechnologies, the need to individualize therapies while allocating medical care equally may result partly from our biological constitution. Human beings are all unique, and their biological differences significantly influence variability in disease causation and therapeutic (...) response to treatments. However, because humans have equal moral worth, there is no ethically justifiable reason to establish an a .. (shrink)

In this issue of the Hastings Center Report, Maya Sabatello and Paul Appelbaum explore the assumptions about community embedded in the U.S. Precision Medicine Initiative, which aims to recruit donor‐partners who reflect the United States’ racial and ethnic diversity. As Sabatello and Appelbaum discuss, the initiative is like other national biobanking efforts in bringing to life an imagined genetic community in need of critical attention, and given the public‐private forms of partnership at the heart of the PMI, such efforts (...) could become avenues to deepen existing inequalities rather than to alleviate them. The notion of justice has underwritten debates about genomic medicine, informed consent, citizenship, benefit sharing, and profit making since the first national biobanking project emerged at the dawn of the twenty‐first century. In a paradigmatic case, the creation, by an Icelandic company, of the deCODE genomic biobank opened up fierce debates about the proper relationship between public good and private gain and became the first global example of the economic and political implications that imagined genetic communities could have in our shared future. In Mexico, in 2001, the Icelandic case fueled a policy agenda to deal with global health justice and the prospects of a future market‐based colonialism predicated on the intimate knowledge of DNA. (shrink)