This article provides a critical review of new policies in China, the United States, and the European Union that characterize genomic data as a national strategic resource. Specifically, we review policies that regulate human genomic data for economic, national security, or other strategic purposes rather than ethical or individual rights purposes.

Background There has been considerable investment and strategic planning to introduce genomic testing into Australia’s public health system. As more patients’ genomic data is being held by the public health system, there will be increased requests from researchers to access this data. It is important that public policy reflects public expectations for how genomic data that is generated from clinical tests is used. To inform public policy and discussions around genomic data sharing, (...) we sought public opinions on using genomic data contained in medical records for research purposes in the Australian state of Queensland. Methods A total of 1494 participants completed an online questionnaire between February and May 2019. Participants were adults living in Australia. The questionnaire explored participant preferences for sharing genomic data or biological samples with researchers, and concerns about genomic data sharing. Results Most participants wanted to be given the choice to have their genomic data from medical records used in research. Their expectations on whether and how often they needed to be approached for permission on using their genomic data, depended on whether the data was identifiable or anonymous. Their willingness to sharing data for research purposes depended on the type of information being shared, what type of research would be undertaken and who would be doing the research. Participants were most concerned with genomics data sharing that could lead to discrimination, data being used for marketing, data security, or commercial use. Conclusions Most participants were willing to share their genomic data from medical records with researchers, as long as permission for use was sought. However, the existing policies related to this process in Queensland do not reflect participant expectations for how this is achieved, particularly with anonymous genomics data. This inconsistency may be addressed by process changes, such as inclusion of research in addition to clinical consent or general research data consent programs. (shrink)

Madole & Harden argue that the Mendelian reshuffling of genes and genomes is analogous to randomised controlled trials. We are not convinced by their arguments. First, their recipe for meeting the demands on randomised experiments is inherently inconsistent. Second, disequilibrium across chromosomes conflicts with their assumption of statistical independence. Third, the genome-wide association study (GWAS) method has many pitfalls, including low repeatability.

Making data broadly accessible is essential to creating a medical information commons. Transparency about data-sharing practices can cultivate trust among prospective and existing MIC participants. We present an analysis of 34 initiatives sharing DNA-derived data based on public information. We describe data-sharing practices captured, including practices related to consent, privacy and security, data access, oversight, and participant engagement. Our results reveal that data-sharing initiatives have some distance to go in achieving transparency.

Platforms for sharing genomic and phenotype data have been developed to promote genomic research, while maximizing the utility of existing datasets and minimizing the burden on participants. The value of genomic analysis of trios or family members has increased, especially in rare diseases and cancers. This article aims to argue the necessity of protection when sharing data from both patients and family members. Sharing patients’ and family members’ data collectively raises an ethical tension between (...) the value of datasets and the rights of participants, and increases the risk of re-identification. However, current data-sharing policies have no specific safeguards or provisions for familial data sharing. A quantitative survey conducted on 10,881 general adults in Japan indicated that they expected stronger protection mechanisms when their family members’ clinical and/or genomic data were shared together, as compared to when only their data were shared. A framework that respects decision-making and the right of withdrawal of participants, including family members, along with ensuring usefulness and security of data is needed. To enable this, we propose recommendations on ancillary safeguards for familial data sharing according to the stakeholders, namely, initial researchers, genomic researchers, data submitters, database operators, institutional review boards, and the public and participants. Families have played significant roles in genetic research, and its value is re-illuminated in the era of genomic medicine. It is important to make progress in data sharing while simultaneously protecting the privacy and interests of patients and families, and return its benefits to them. (shrink)

Biomedical research recruitment today focuses on including participants representative of global genetic variation—rightfully so. But ethnographic attention to practices of inclusion highlights how this agenda often transforms into “predatory inclusion,” simplistic pushes to get Black and brown people into genomic databases. As anthropologists of medicine, we argue that the question of how to get from diverse data to concrete benefit for people who are marginalized cannot be presumed to work itself out as a byproduct of diverse datasets. To (...) actualize the equitable translation of genomics, practitioners need to place the impacts of ancestral genetic difference in the scope of much more impactful social determinants. For this to happen, multidisciplinary expertise needs to be leveraged, and current, structurally unequal health care systems ultimately need to transform. As modest steps toward this goal, new models for benefit‐sharing must be developed and implemented to mitigate existing inequality between data donors and the entities profiting from that data. (shrink)

Genomic sequencing (GS) is increasingly used in paediatric medicine to aid in screening, research and treatment. Some health systems are trialling GS as a first-line test in newborn screening programmes. Questions about what to do with genomic data after it has been generated are becoming more pertinent. While other research has outlined the ethical reasons for storing deidentified genomic data to be used in research, the ethical case for storing data for future clinical use (...) has not been explicated. In this paper, we examine the ethical case for storing genomic data with the intention of using it as a lifetime health resource. In this model, genomic data would be stored with the intention of reanalysis at certain points through one’s life. We argue this could benefit individuals and create an important public resource. However, several ethical challenges must first be met to achieve these benefits. We explore issues related to privacy, consent, justice and equality. We conclude by arguing that health systems should be moving towards futures that allow for the sequential interrogation of genomic data throughout the lifespan. (shrink)

The biosciences have become information sciences, in which knowledge is often produced in silica, by the manipulation and analysis of large datasets. Genomics has been at the forefront of the data explosion and is a model for bioscience as a large-scale endeavor. Large genome research datasets are frequently shared through research repositories. To protect the interests of people from whom the data were derived , human data are often shared through a controlled access mechanism, in which (...) class='Hi'>data repositories can, in theory, place limitations on who uses the data and for what purpose. Controlled access is an innovative governance mechanism, but it may not protect data sources the way policy makers intended. Here, I describe one controlled access process in some detail, and provide insight into how and why researchers fail to comply with data use restrictions. (shrink)

BackgroundWhile genomic data sharing can facilitate important health research and discovery benefits, these must be balanced against potential privacy risks and harms to individuals. Understanding public attitudes and perspectives on data sharing is important given these potential risks and to inform genomic research and policy that aligns with public preferences and needs.MethodsA cross sectional online survey measured attitudes towards genomic data sharing among members of the general public in an Eastern Canadian province.ResultsResults showed a (...) moderate comfort level with sharing genomic data, usually into restricted scientific databases with controlled access. Much lower comfort levels were observed for sharing data into open or publicly accessible databases. While respondents largely approved of sharing genomic data for health research permitted by a research ethics board, many general public members were concerned with who would have access to their data, with higher rates of approval for access from clinical or academic actors, but much more limited approval of access from commercial entities or governments. Prior knowledge about sequencing and about research ethics boards were both related to data sharing attitudes.ConclusionsWith evolving regulations and guidelines for genomics research and data sharing, it is important to consider the perspectives of participants most impacted by these changes. Participant information materials and informed consent documents must be explicit about the safeguards in place to protect genomic data and the policies governing the sharing of data. Increased public awareness of the role of research ethics boards and of the need for genomic data sharing more broadly is also needed. (shrink)

Our ability to generate genomic data is currently well ahead of our ability to understand what they mean, raising challenges about how best to engage with them. This article considers ethical aspects of work with such data, focussing on research contexts that are intertwined with clinical care. We discuss the identifying nature of genomic data, the medical information intrinsic within them, and their linking of people within a biological family. We go on to consider what (...) this means for consent, the importance of thoughtful sharing of genomic data, the challenge of constructing meaningful findings, and the legacy of unequal representation in genomic datasets. We argue that the ongoing success of genomic data research relies on public trust in the enterprise: to justify this trust, we need to ensure robust stewarding, and wide engagement about the ethical issues inherent in such practices. (shrink)

The rapid accumulation of gene sequence data is allowing evolutionary inferences of unprecedented resolution. In the area of population genetics, gene trees and polymorphism data are being used to study demographic parameters. In the area of comparative biology, the shapes of phylogenetic trees provide information about patterns of speciation, coevolution, and macroevolution. A variety of statistical methods have been developed for exploiting the information contained within organismal genomes. In this paper, we emphasise the conceptual bases of the tests, (...) rather than details of their implementation. BioEssays 1999;21:148–156. © 1999 John Wiley & Sons, Inc. (shrink)

In “Obligations of the ‘Gift’: Reciprocity and Responsibility in Precision Medicine,” Lee rightly points out that disparities in health care access also lead to disparities in precision medi...

Life on earth is bound together by a common heritage, centered around a molecule that is present in almost every living cell of every living creature. Deoxyribonucleic acid (DNA), composed of four base pairs, the nucleic acids thymine, adenine, cytosine, and guanine, encodes the data that directs, in conjunction with the environment, the development and metabolism of all nondependent living creatures. Except for some viruses that rely only on ribonucleic acid (RNA), all living things are built by the interaction (...) of DNA and RNA within cells and their environments. There is no worldwide consensus yet as to whether portions of the human genome should be granted intellectual property protection, as indeed they are in the United States and a number of other nations. DNA posed numerous challenges to the legal framework for patent protection and may suggest developing an entirely new social and legal category recognizing its uniqueness. (shrink)

This article considers the practical question of how research institutions should best structure their legal relationship with the human genomic data that they generate. The analysis, based on South African law, is framed by the legal position that although a research institution that generates human genomic data is not automatically the owner thereof, it is well positioned to claim ownership of newly generated data instances. Given that the research institution exerts effort to generate the (...) class='Hi'>data, it can be argued that it has a moral right to claim ownership of such data. Combined with the fact that it has an interest in having comprehensive rights in such data, it appears that the prudent policy for research institutions is to claim ownership of the human genomic data instances that they generate. This policy is tested against two opposing policy positions. The first opposing policy position is that research participants should own the data that relate to them. However, in light of data protection legislation that already provides extensive protections to research participants, bestowing data ownership on research participants would offer little benefit to such individuals, while leading to significant practical problems for research institutions. The second opposing policy position is that the concept of ownership should be abandoned in favour of data custodianship. This opposing position is problematic, as avoiding reference to ownership is a denial of legal reality and hence not a useful policy. Also, avoiding reference to ownership will leave research institutions with limited legal remedies in the event of appropriation of data by third parties. Accordingly, it is concluded that the wisest policy for research institutions is indeed to explicitly claim ownership of the human genomic data instances that they generate. (shrink)

In order to study the relationship between genes and diseases, the increasing availability and sharing of phenotypic and genotypic data have been promoted as an imperative within the scientific community. In parallel with data sharing practices by clinicians and researchers, recent initiatives have been observed in which individuals are sharing personal genomic data. The involvement of individuals in such initiatives is facilitated by the increased accessibility of personal genomic data, offered by private test providers (...) along with availability of online networks. Personal webpages and on-line data sharing platforms such as Consent to Research, Free the Data, and Genomes Unzipped are being utilized to host and share genotypes, electronic health records and family history uploaded by individuals. Although personal genomic data sharing initiatives vary in nature, the emphasis on the individuals’ control on their data in order to benefit research and ultimately health care has seen as a key theme across these initiatives. In line with the growing practice of personal genomic data sharing, this paper aims to shed light on the potential challenges surrounding these initiatives. As in the course of these initiatives individuals are solicited to individually balance the risks and benefits of sharing their genomic data, their awareness of the implications of personal genomic data sharing for themselves and their family members is a necessity. Furthermore, given the sensitivity of genomic data and the controversies around their complete de-identifiability, potential privacy risks and harms originating from unintended uses of data have to be taken into consideration. (shrink)

Bioethics, Volume 35, Issue 8, Page 779-786, October 2021.

The article “Ethical Responsibilities for Companies that Process Personal Data” (McCoy et al. 2023) provides a principled and pragmatic ethical framework for companies collecting, sharing, and usin...

Data access committees (DAC) gatekeep access to secured genomic and related health datasets yet are challenged to keep pace with the rising volume and complexity of data generation. Automated decision support (ADS) systems have been shown to support consistency, compliance, and coordination of data access review decisions. However, we lack understanding of how DAC members perceive the value add of ADS, if any, on the quality and effectiveness of their reviews. In this qualitative study, we report (...) findings from 13 semi-structured interviews with DAC members from around the world to identify relevant barriers and facilitators to implementing ADS for genomic data access management. Participants generally supported pilot studies that test ADS performance, for example in cataloging data types, verifying user credentials and tagging datasets for use terms. Concerns related to over-automation, lack of human oversight, low prioritization, and misalignment with institutional missions tempered enthusiasm for ADS among the DAC members we engaged. Tensions for change in institutional settings within which DACs operated was a powerful motivator for why DAC members considered the implementation of ADS into their access workflows, as well as perceptions of the relative advantage of ADS over the status quo. Future research is needed to build the evidence base around the comparative effectiveness and decisional outcomes of institutions that do/not use ADS into their workflows. (shrink)

Phylogenetic systematics is one of the most important analytical frameworks of modern Biology. It seems to be common knowledge that within phylogenetics, ‘groups’ must be defined based solely on the synapomorphies or on the “derived” characters that unite two or more taxa in a clade or monophyletic group. Thus, the idea of synapomorphy seems to be of fundamental influence and importance. Here I will show that the most common and straightforward understanding of synapomorphy as a shared derived character is not (...) sufficient and eventually must be rejected in favor of Nelson’s relational interpretation of such term. Arguing for this point and using three examples from previously published Apes’ genomic matrices, I explicitly demonstrate that the relationship )) with Hylobatidae as a sister taxon, may be successfully recovered by three-taxon statement analysis and three-taxon statement average consensus analysis even if all of the evident standard shared derived molecular characters of the relationship )) with Hylobatidae as a sister taxon, have been excluded from the molecular alignments. Neither conventional Maximum Parsimony nor Maximum Likelihood or Bayesian Inference can do this in such situation. Thus, our results show that the relationship )) with Hylobatidae as a sister taxon has appeared, in some way, behind standard shared derived characters: the last ones could be excluded, but the relationship remains the same. (shrink)

Background Biobanking and genomic research requires collection and storage of human tissue from study participants. From participants’ perspectives within the African context, this can be associated with fears and misgivings due to a myriad of factors including myths and mistrust of researchers. From the researchers angle ethical dilemmas may arise especially with consenting and sample reuse during storage. The aim of this paper was to explore these ethical considerations in the establishment and conduct of biobanking and genomic studies (...) in Africa. Methods We conducted a narrative synthesis following a comprehensive search of nine (9) databases and grey literature. All primary research study designs were eligible for inclusion as well as both quantitative and qualitative evidence from peer reviewed journals, spanning a maximum of 20 years (2000–2020). It focused on research work conducted in Africa, even if data was stored or analysed outside the region. Results Of 2,663 title and abstracts screened, 94 full texts were retrieved and reviewed for eligibility. We included 12 studies (7 qualitative; 4 quantitative and one mixed methods). Ethical issues described in these papers related to community knowledge and understanding of biobanking and genomic research, regulation, and governance of same by research ethics committees, enrolment of participants, types of informed consents, data collection, storage, usage and sharing as well as material transfer, returning results and benefit sharing. ca. Biospecimen collection and storage is given in trust and participants expect confidentially of data and results generated. Most participants are comfortable with broad consent due to trust in researchers, though a few would like to be contacted for reconsenting in future studies, and this would depend on whether the new research is for good cause. Sharing data with external partners is welcome in some contexts but some research participants did not trust foreign researchers. Conclusion Biobanking and genomic studies are a real need in Africa. Linked to this are ethical considerations related to setting up and participation in biobanks as well as data storage, export, use and sharing. There is emerging or pre-existing consensus around the acceptability of broad consent as a suitable model of consent, the need for Africans to take the lead in international collaborative studies, with deliberate efforts to build capacity in local storage and analysis of samples and employ processes of sample collection and use that build trust of communities and potential study participants. Research ethics committees, researchers and communities need to work together to work together to adapt and use clearly defined ethical frameworks, guidelines, and policy documents to harmonize the establishment and running of biobanking and genomic research in Africa. (shrink)

This chapter contains sections titled: The Current Conundrum The Objects of Our Study The Legal Framework So Far Special Challenges of DNA Property and Parts Autonomy, Individuality, and Personhood Economics and the Marketplace for Genes Ethics and Method An Outline for the Investigation The Challenge Ahead.

In July 2020, the H3Africa Ethics and Community Engagement (E&CE) Working Group organised a webinar with ethics committee members and biomedical researchers from various African institutions throughout the Continent to discuss the issue of whether and how biological samples for scientific research may be accessed by commercial entities when broad consents obtained for the samples are silent. 128 people including Research Ethics Committee members (10), H3Africa researchers (46) including members of the E&CE working group, biomedical researchers not associated with H3Africa (...) (27), representatives from the National Institutes of Health (16) and 10 other participants attended the webinar and shared their views. Several major themes emerged during the webinar, with the topics of broad versus explicit informed consent, defining commercial use, legacy samples and benefit sharing prevailing in the discussion. This report describes the consensus concerns and recommendations raised during the meeting and will be informative for future research on ethical considerations for genomic research in the African research context. (shrink)

Openness is one of science’s fundamental ethical norms, but it should not take precedence over the obligation to protect the confidentiality of data. Deidentifying the data obtained from human genomic research as a condition of providing open access to research data is a strategy to promote scientific openness while protecting research participants’ confidentiality interests. However, given recent advances in methods of reidentifying individuals whose deidentified data are in genomic databases, the best way to balance (...) scientific openness and protection of human subjects in genomic research is to permit access to genomic data on a restricted basis. (shrink)

This essay examines issues involving personal privacy and informed consent that arise at the intersection of information and communication technology and population genomics research. I begin by briefly examining the ethical, legal, and social implications program requirements that were established to guide researchers working on the Human Genome Project. Next I consider a case illustration involving deCODE Genetics, a privately owned genetics company in Iceland, which raises some ethical concerns that are not clearly addressed in the current ELSI guidelines. The (...) deCODE case also illustrates some ways in which an ICT technique known as data mining has both aided and posed special challenges for researchers working in the field of population genomics. On the one hand, data-mining tools have greatly assisted researchers in mapping the human genome and in identifying certain “disease genes” common in specific populations. On the other hand, this technology has significantly threatened the privacy of research subjects participating in population genomics studies, who may, unwittingly, contribute to the construction of new groups that put those subjects at risk for discrimination and stigmatization. In the final section of this paper I examine some ways in which the use of data mining in the context of population genomics research poses a critical challenge for the principle of informed consent, which traditionally has played a central role in protecting the privacy interests of research subjects participating in epidemiological studies. (shrink)

Background Sharing of genomic data aims to make efficient use of limited resources, which may be particularly valuable in rare disease research. Adult research participants and parents of pediatric research participants have shown support for data sharing with protections, but little is known about adolescent attitudes on genomic privacy and data sharing.Methods In-depth interviews were conducted with 10 adolescents and 18 parents of children enrolled in a pediatric genomic research repository. Interview transcripts were analyzed (...) for themes on attitudes toward genomic privacy, restricted-access data sharing, and open-access data sharing. Findings in adolescent and parent participants were compared and contrasted.Results No adolescents endorsed privacy concerns for restricted-access data sharing. Both adolescents and parents saw value in data sharing for reaching the goals of research and discussed trust in institutions and researchers to protect their data and use it as intended. Adolescents were more likely than parents to accept open-access data sharing, including after risks were discussed.Conclusions In this exploratory study, adolescents and parents enrolled in a genomic research repository shared many attitudes about genomic data sharing, but adolescents were less concerned about privacy and more agreeable toward open-access data sharing. Future research is needed to investigate this hypothesis in expanded populations and settings, and to clarify whether adolescent attitudes change with age and experiences. (shrink)

This paper investigates epistemological and ethical implications of the growingavailability of direct-to-consumer genetic testing for the science and society. Direct-toconsumer genetic testing is characterized as the genetic testing sold directly to consumerswithout any assistance from professionals. By offering empowerment and control, companiesconvince consumers to sequence their genome by granting the company access to theirgenetic data in exchange to results that are not always accurate. To which extent doconsumers properly understand the results of their genetic testing? Are consumers aware ofthe (...) possible implications for disclosing genetic information to private companies? I addressthese questions in two steps: firstly, I discuss epistemological implications of thedevelopment of Genomics, understood as a data-intensive science, by delving into thetheoretical commitments of the concept of gene and the notion of circular causality.Secondly, I reflect upon the privacy risks of taking direct-to-consumer genetic testing in adata-rich world. Finally, I draw some conclusions on the possible consequences of direct-toconsumer genetic testing by suggesting key-concepts that may help to clarify the limits andscope of genetic testing. (shrink)

The digital revolution has disruptively reshaped the way health services are provided and how research is conducted. This transformation has produced novel ethical challenges. The digitalization of...

We bring together recent discussions on data capitalism and biocapitalization by studying value flows in consumer genomics firms—an industry at the intersection between health care and technology realms. Consumer genomics companies market genomic testing services to consumers as a source of fun, altruism, belonging and knowledge. But by maintaining a multisided or platform business model, these firms also engage in digital capitalism, creating financial profit from data brokerage. This is a precarious balance to strike: If these companies’ (...) business models consist of assetizing the pool of genomic data that they assemble, then part of their work has to revolve around obscuring to consumers any uncertainties that would potentially impinge on these processes of assemblage. We reflect on the nature of these practices and the market relationships that enable them, and we relate this reflection to debates around alternative market arrangements that would potentially mitigate the extractive tendencies of these and other digital health firms. (shrink)

“Ancient DNA Research” is the practice of extracting, sequencing, and analyzing degraded DNA from dead organisms that are hundreds to thousands of years old. Today, many researchers are interested in adapting state-of-the-art molecular biological techniques and high-throughput sequencing technologies to optimize the recovery of DNA from fossils, then use it for studying evolutionary history. However, the recovery of DNA from fossils has also fueled the idea of resurrecting extinct species, especially as its emergence corresponded with the book and movie Jurassic (...) Park in the 1990s. In this paper, I use historical material, interviews with scientists, and philosophical literature to argue that the search for DNA from fossils can be characterized as a data-driven and celebrity-driven practice. Philosophers have recently argued the need to seriously consider the role of data-driven inquiry in the sciences, and likewise, this history highlights the need to seriously consider the role of celebrity in shaping the kind of research that gets pursued, funded, and ultimately completed. On this point, this history highlights that the traditional philosophical and scientific distinctions between data-driven and hypothesis-driven research are not always useful for understanding the process and practice of science. Consequently, I argue that the celebrity status of a particular research practice can be considered as a “serious epistemic strategy” that researchers, as well as editors and funders, employ when making choices about their research and publication processes. This interplay between celebrity and methodology matters for the epistemology of science. (shrink)

Science and engineering rely on the accumulation and dissemination of knowledge to make discoveries and create new designs. Discovery-driven genome research rests on knowledge passed on via gene annotations. In response to the deluge of sequencing big data, standard annotation practice employs automated procedures that rely on majority rules. We argue this hinders progress through the generation and propagation of errors, leading investigators into blind alleys. More subtly, this inductive process discourages the discovery of novelty, which remains essential in (...) biological research and reflects the nature of biology itself. Annotation systems, rather than being repositories of facts, should be tools that support multiple modes of inference. By combining deduction, induction and abduction, investigators can generate hypotheses when accurate knowledge is extracted from model databases. A key stance is to depart from ‘the sequence tells the structure tells the function’ fallacy, placing function first. We illustrate our approach with examples of critical or unexpected pathways, using MicroScope to demonstrate how tools can be implemented following the principles we advocate. We end with a challenge to the reader. (shrink)

Data-sharing among genomic researchers is promoted for its potential to accelerate our understanding of the molecular basis of cancer. However, with genomic data sharing the risks of re-identifying study participants, revealing personal genomic information and data misuse might increase. This study aims at exploring perceptions of patients and physicians in Oncology regarding their assessment of the informational risks resulting from participating in whole genomic research studies in order to improve the informed consent process. (...) For this purpose, we conducted a qualitative focus group study at the National Center for Tumor Diseases. Patients and oncologists assessed the informational risks either as minimal or as greater than minimal, depending on the context factors of occupational status, age, and patients’ prognosis. Interestingly, even patients who assumed a greater risk did not refrain from participating in genomic research, provided that certain informational and institutional safeguards are implemented. Moreover, they expected comprehensive disclosure of the risks resulting from genomic data sharing. These results suggest comprehensive disclosure of the risks of genomic research to potential study participants in genomic research to facilitate risk assessment and sound decision making, establishing independent governance entities in order to minimize the informational risks of genomic research, and implementing data sharing policies which offer guidance for physicians and researchers involved in genomic research. (shrink)

As genomic research becomes commonplace across the world, there is an increased need to coordinate practices among researchers, especially with regard to data sharing. One such way is an international code of conduct. In September 2020, an expert panel consisting of representatives from various fields convened to discuss a draft proposal formed via a synthesis of existing professional codes and other recommendations. This article presents an overview and analysis of the main issues related to international genomic research (...) that were discussed by the expert panel, and the results of the discussion and follow up responses by the experts. As a result, the article presents as an annex a proposal for an international code of conduct for data sharing in genomics that is meant to establish best practices. (shrink)

Background: Recent changes to regulatory guidance in the US and Europe have complicated oversight of secondary research by rendering most uses of de-identified data exempt from human subjects oversight. To identify the implications of such guidelines for harms to participants and communities, this paper explores the secondary uses of one de-identified DNA sample collection with limited oversight: the Human Genome Diversity Project (HGDP)-Centre d'Etude du Polymorphisme Humain, Fondation Jean Dausset (CEPH) Human Genome Diversity Panel. Methods: Using a combination of (...) keyword and cited reference search, we identified English-language scientific articles published between 2002 and 2009 that reported analysis of HGDP Diversity Panel samples and/or data. We then reviewed each article to identify the specific research use to which the samples and/or data was applied. Secondary uses were categorized according to the type and kind of research supported by the collection. Results: A wide variety of secondary uses were identified from 148 peer-reviewed articles. While the vast majority of these uses were consistent with the original intent of the collection, a minority of published reports described research whose primary findings could be regarded as controversial, objectionable, or potentially stigmatizing in their interpretation. Conclusions: We conclude that potential risks to participants and communities cannot be wholly eliminated by anonymization of individual data and suggest that explicit review of proposed secondary uses, by a Data Access Committee or similar internal oversight body with suitable stakeholder representation, should be a required component of the trustworthy governance of any repository of data or specimens. (shrink)

In this paper we argue that ‘informed’ consent in Big Data genomic biobanking is frequently less than optimally informative. This is due to the particular features of genomic biobanking research which render it ethically problematic. We discuss these features together with details of consent models aimed to address them. Using insights from consent theory, we provide a detailed analysis of the essential components of informed consent which includes recommendations to improve consent performance. In addition, and using insights (...) from philosophy of mind and language and psycholinguistics we support our analyses by identifying the nature and function of concepts (ideas) operational in human cognition and language together with an implicit coding/decoding model of human communication. We identify this model as the source of patients/participants poor understanding. We suggest an alternative, explicit model of human communication, namely, that of relevance‐theoretic inference which obviates the limitations of the code model. We suggest practical strategies to assist health service professionals to ensure that the specific information they provide concerning the proposed treatment or research is used to inform participants’ decision to consent. We do not prescribe a standard, formal approach to decision‐making where boxes are ticked; rather, we aim to focus attention towards the sorts of considerations and questions that might usefully be borne in mind in any consent situation. We hope that our theorising will be of real practical benefit to nurses and midwives working on the clinical and research front‐line of genomic science. (shrink)

As Next Generation Sequencing technologies are increasingly implemented in biomedical research and care, the number of study participants and patients who ask for release of their genomic raw data is set to increase. This raises the question whether research participants and patients have a legal and moral right to receive their genomic raw data and, if so, how this right should be implemented into practice. In a first step we clarify some central concepts such as “raw (...) data”; in a second step we sketch the international legal framework. The third step provides an extensive ethical analysis which comprehends two parts: an evaluation of whether there is a prima facie moral right to receive one’s raw data, and a contextualization and discussion of the right in light of potentially conflicting interests and rights of the data subject herself and third parties; in a last fourth step we emphasize the main practical consequences of the ethical analyses and propose recommendations for the release of raw data. In several legislations like the new European General Data Protection Regulation, patients do in principle have the right to receive their raw data. However, the procedural implementation of this right and whether it involves genetic counselling is at the discretion of the Member States. Even more questions remain with respect to the research context. The ethical analysis suggests that patients and research subjects have a moral right to receive their genomic raw data and addresses aspects which are also of relevance for the legal discussion such as the costs of release of raw data and its impact on academic freedom. Taking into account the specific nature and implications of genomic raw data and the contexts of research and health care, several concerns and potentially conflicting interests of the data subjects themselves and involved researchers, physicians, biomedical institutions and relatives arise. Instead of using them to argue in favor of restrictions of the data subjects’ legal and moral right to genomic raw data, the concerns should be addressed through provision of information and other measures. To this end, we propose relevant recommendations. (shrink)

There is growing interest for a communitarian approach to the governance of genomics, and for such governance to be grounded in principles of justice, equity and solidarity. However, there is a near absence of conceptual studies on how communitarian-based principles, or values, may inform, support or guide the governance of genomics research. Given that solidarity is a key principle in Ubuntu, an African communitarian ethic and theory of justice, there is emerging interest about the extent to which Ubuntu could offer (...) guidance for the governance of genomics research in Africa. To this effect, we undertook a conceptual analysis of Ubuntu with the goal of identifying principles that could inform equity-oriented governance of genomics research. Solidarity, reciprocity, open sharing, accountability, mutual trust, deliberative decision-making and inclusivity were identified as core principles that speak directly to the different macro-level ethical issues in genomics research in Africa such as: the exploitation of study populations and African researchers, equitable access and use of genomics data, benefit sharing, the possibility of genomics to widen global health inequities and the fair distribution of resources such as intellectual property and patents. We use the identified the principles to develop ethical guidance for genomics governance in Africa. (shrink)

When relating genomic data to survival outcomes, there are three main challenges that are the censored survival outcomes, the high-dimensionality of the genomic data, and the non-normality of data. We propose a method to tackle these challenges simultaneously and obtain a robust estimation of detecting significant genes related to survival outcomes based on Accelerated Failure Time model. Specifically, we include a general loss function to the AFT model, adopt model regularization and shrinkage technique, cope with (...) parameters tuning and model selection, and develop an algorithm based on unified Expectation–Maximization approach for easy implementation. Simulation results demonstrate the advantages of the proposed method compared with existing methods when the data has heavy-tailed errors and correlated covariates. Two real case studies on patients are provided to illustrate the application of the proposed method. (shrink)

Data-sharing among genomic researchers is promoted for its potential to accelerate our understanding of the molecular basis of cancer. However, with genomic data sharing the risks of re-identifying study participants, revealing personal genomic information and data misuse might increase. This study aims at exploring perceptions of patients and physicians in Oncology regarding their assessment of the informational risks resulting from participating in whole genomic research studies in order to improve the informed consent process. (...) For this purpose, we conducted a qualitative focus group study at the National Center for Tumor Diseases (NCT). Patients and oncologists assessed the informational risks either as minimal or as greater than minimal, depending on the context factors of occupational status, age, and patients’ prognosis. Interestingly, even patients who assumed a greater risk did not refrain from participating in genomic research, provided that certain informational and institutional safeguards are implemented. Moreover, they expected comprehensive disclosure of the risks resulting from genomic data sharing. These results suggest (1) comprehensive disclosure of the risks of genomic research to potential study participants in genomic research to facilitate risk assessment and sound decision making, (2) establishing independent governance entities in order to minimize the informational risks of genomic research, and (3) implementing data sharing policies which offer guidance for physicians and researchers involved in genomic research. (shrink)

Harms and risks to groups and third-parties can be significant in the context of research, particularly in data-centric studies involving genomic, artificial intelligence, and/or machine learning technologies. This article explores whether and how United States federal regulations should be adapted to better align with current ethical thinking and protect group interests. Three aspects of the Common Rule deserve attention and reconsideration with respect to group interests: institutional review board (IRB) assessment of the risks/benefits of research; disclosure requirements in (...) the informed consent process; and criteria for waivers of informed consent. In accordance with respect for persons and communities, investigators and IRBs should systematically consider potential group harm when designing and reviewing protocols, respectively. Research participants should be informed about any potential group harm in the consent process. We call for additional public discussion, empirical research, and normative analysis on these issues to determine the right regulatory and policy path forward. (shrink)

The Bermuda Principles for DNA sequence data sharing are an enduring legacy of the Human Genome Project. They were adopted by the HGP at a strategy meeting in Bermuda in February of 1996 and implemented in formal policies by early 1998, mandating daily release of HGP-funded DNA sequences into the public domain. The idea of daily sharing, we argue, emanated directly from strategies for large, goal-directed molecular biology projects first tested within the “community” of C. elegans researchers, and were (...) introduced and defended for the HGP by the nematode biologists John Sulston and Robert Waterston. In the C. elegans community, and subsequently in the HGP, daily sharing served the pragmatic goals of quality control and project coordination. Yet in the HGP human genome, we also argue, the Bermuda Principles addressed concerns about gene patents impeding scientific advancement, and were aspirational and flexible in implementation and justification. They endured as an archetype for how rapid data sharing could be realized and rationalized, and permitted adaptation to the needs of various scientific communities. Yet in addition to the support of Sulston and Waterston, their adoption also depended on the clout of administrators at the US National Institutes of Health and the UK nonprofit charity the Wellcome Trust, which together funded 90% of the HGP human sequencing effort. The other nations wishing to remain in the HGP consortium had to accommodate to the Bermuda Principles, requiring exceptions from incompatible existing or pending data access policies for publicly funded research in Germany, Japan, and France. We begin this story in 1963, with the biologist Sydney Brenner’s proposal for a nematode research program at the Laboratory of Molecular Biology at the University of Cambridge. We continue through 2003, with the completion of the HGP human reference genome, and conclude with observations about policy and the historiography of molecular biology. (shrink)

BackgroundThe highly sensitive nature of genomic and associated clinical data, coupled with the consent-related vulnerabilities of children together accentuate ethical, legal and social issues (ELSI) concerning data sharing. The Key Implications of Data Sharing (KIDS) framework was therefore developed to address a need for institutional guidance on genomic data governance but has yet to be validated among data sharing practitioners in practice settings. This study qualitatively explored areas of consensus and dissensus of the (...) KIDS Framework from the perspectives of Canadian clinician-scientists, genomic researchers, IRB members, and pediatric ethicists.MethodsTwelve panelists participated in a three-round online policy Delphi to determine the desirability, feasibility, relative importance and confidence of twelve individual statements of the KIDS Framework. Mean and IQR were calculated from panelists’ ratings to determine the strength of consensus and polarity. Qualitative content analysis of panelists’ written responses was used to assess degree of support. Statements were validated when their combined ratings and qualitative rationales indicated high-moderate consensus (at least 70% agreement across two contiguous categories), low to no polarity (IQR at least 1.0) and strong support.ResultsNine original, and one new statement reached consensus. These statements outlined essential elements of the informed consent process, including a realistic evaluation of benefits and risks and assurance of future ethics oversight for secondary data use. Discrepant views on appropriate protections for anonymized and coded i.e. de-identified genomic data were primary sources of dissensus.ConclusionsThe validated statements provide institutions with empirically supported best practices for sharing genomic and associated clinical data involving children from the perspectives of key stakeholders. Concerted efforts to quantify informational risks that can be conveyed to patients and families are further needed to align data sharing policy with stakeholder priorities. (shrink)