239 results on '"Genomics legislation & jurisprudence"'
Search Results
2. Moving Genomics into the Clinic: Platforms for Implementing Clinical Genomic Data-Sharing in Ways That Address Ethical, Legal and Social Implications.
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Nicol D, Otlowski M, Reade K, Thorne N, and Gaff C
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- Humans, Australia, Informed Consent legislation & jurisprudence, Genetic Privacy legislation & jurisprudence, Confidentiality legislation & jurisprudence, Genomics legislation & jurisprudence, Genomics ethics, Information Dissemination legislation & jurisprudence, Information Dissemination ethics
- Abstract
This section explores the challenges involved in translating genomic research into genomic medicine. A number of priorities have been identified in the Australian National Health Genomics Framework for addressing these challenges. Responsible collection, storage, use and management of genomic data is one of these priorities, and is the primary theme of this section. The recent release of Genomical, an Australian data-sharing platform, is used as a case study to illustrate the type of assistance that can be provided to the health care sector in addressing this priority. The section first describes the National Framework and other drivers involved in the move towards genomic medicine. The section then examines key ethical, legal and social factors at play in genomics, with particular focus on privacy and consent. Finally, the section examines how Genomical is being used to help ensure that the move towards genomic medicine is ethically, legally and socially sound and that it optimises advances in both genomic and information technology., Competing Interests: Nicol and Otlowski are supported by a grant from the Australian Research Council, DP180100269. The Melbourne Genomics Health Alliance is supported are supported by the Victorian Government Department of Health and Human Services (www.dhhs.vic.gov.au/).
- Published
- 2024
3. The Evolution of Forensic Genomics: Regulating Massively Parallel Sequencing.
- Author
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Smith M and Miller S
- Subjects
- Humans, Moral Obligations, Ethical Analysis, Morals, High-Throughput Nucleotide Sequencing ethics, Genomics ethics, Genomics legislation & jurisprudence, Forensic Genetics ethics, Forensic Genetics legislation & jurisprudence, Forensic Genetics methods, Law Enforcement ethics
- Abstract
Forensic genomics now enables law enforcement agencies to undertake rapid and detailed analysis of suspect samples using a technique known as massively parallel sequencing (MPS), including information such as physical traits, biological ancestry, and medical conditions. This article discusses the implications of MPS and provides ethical analysis, drawing on the concept of joint rights applicable to genomic data, and the concept of collective moral responsibility (understood as joint moral responsibility) that are applicable to law enforcement investigations that utilize genomic data. The widespread and unconstrained use of this technology without appropriate legal protections of individual moral rights and associated accountability mechanisms, could potentially not only involve violations of individual moral rights but also lead to an unacceptable shift in the balance of power between governments and the citizenry. We argue that in light of the rights of victims and the security benefits for society, there is a collective moral responsibility for individuals to submit their DNA to law enforcement and for MPS to be used where other, less invasive techniques are not effective. However, this application should be limited by legislation, including that any data obtained should be directly relevant to the investigation and should be destroyed at the conclusion of the investigation., (© 2023. Journal of Bioethical Inquiry Pty Ltd.)
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- 2024
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4. Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications.
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van der Geest MA, Maeckelberghe ELM, van Gijn ME, Lucassen AM, Swertz MA, van Langen IM, and Plantinga M
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- Humans, High-Throughput Nucleotide Sequencing ethics, Genomics ethics, Genomics legislation & jurisprudence, Genomics methods, Laboratories, Clinical, Genetic Testing ethics, Genetic Testing economics, Genetic Testing legislation & jurisprudence, Genetic Testing standards, Genetic Testing methods
- Abstract
With the introduction of Next Generation Sequencing (NGS) techniques increasing numbers of disease-associated variants are being identified. This ongoing progress might lead to diagnoses in formerly undiagnosed patients and novel insights in already solved cases. Therefore, many studies suggest introducing systematic reanalysis of NGS data in routine diagnostics. Introduction will, however, also have ethical, economic, legal and (psycho)social (ELSI) implications that Genetic Health Professionals (GHPs) from laboratories should consider before possible implementation of systematic reanalysis. To get a first impression we performed a scoping literature review. Our findings show that for the vast majority of included articles ELSI aspects were not mentioned as such. However, often these issues were raised implicitly. In total, we identified nine ELSI aspects, such as (perceived) professional responsibilities, implications for consent and cost-effectiveness. The identified ELSI aspects brought forward necessary trade-offs for GHPs to consciously take into account when considering responsible implementation of systematic reanalysis of NGS data in routine diagnostics, balancing the various strains on their laboratories and personnel while creating optimal results for new and former patients. Some important aspects are not well explored yet. For example, our study shows GHPs see the values of systematic reanalysis but also experience barriers, often mentioned as being practical or financial only, but in fact also being ethical or psychosocial. Engagement of these GHPs in further research on ELSI aspects is important for sustainable implementation., (© 2024. The Author(s).)
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- 2024
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5. WHO principles speed up ethical sharing of pathogen genomic data.
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Moorthy V, Morgan O, Ihekweazu C, and Swaminathan S
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- Humans, Genomics ethics, Genomics legislation & jurisprudence, Information Dissemination ethics, Information Dissemination legislation & jurisprudence, World Health Organization, Microbiology ethics, Microbiology legislation & jurisprudence, Virulence genetics
- Published
- 2022
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6. Genomic research data and the justice system-Response.
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Mathews DJH and Ram N
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- Biomedical Research legislation & jurisprudence, Humans, United States, Criminal Law, DNA Fingerprinting, Genetic Privacy, Genomics legislation & jurisprudence, Microsatellite Repeats
- Published
- 2022
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7. Threatened Species Initiative: Empowering conservation action using genomic resources.
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Hogg CJ, Ottewell K, Latch P, Rossetto M, Biggs J, Gilbert A, Richmond S, and Belov K
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- Animals, Data Collection, Endangered Species trends, Genome, Genomics legislation & jurisprudence, Genomics methods, Government, Conservation of Natural Resources methods, Endangered Species legislation & jurisprudence, Genomics standards
- Abstract
Globally, 15,521 animal species are listed as threatened by the International Union for the Conservation of Nature, and of these less than 3% have genomic resources that can inform conservation management. To combat this, global genome initiatives are developing genomic resources, yet production of a reference genome alone does not conserve a species. The reference genome allows us to develop a suite of tools to understand both genome-wide and functional diversity within and between species. Conservation practitioners can use these tools to inform their decision-making. But, at present there is an implementation gap between the release of genome information and the use of genomic data in applied conservation by conservation practitioners. In May 2020, we launched the Threatened Species Initiative and brought a consortium of genome biologists, population biologists, bioinformaticians, population geneticists, and ecologists together with conservation agencies across Australia, including government, zoos, and nongovernment organizations. Our objective is to create a foundation of genomic data to advance our understanding of key Australian threatened species, and ultimately empower conservation practitioners to access and apply genomic data to their decision-making processes through a web-based portal. Currently, we are developing genomic resources for 61 threatened species from a range of taxa, across Australia, with more than 130 collaborators from government, academia, and conservation organizations. Developed in direct consultation with government threatened-species managers and other conservation practitioners, herein we present our framework for meeting their needs and our systematic approach to integrating genomics into threatened species recovery., Competing Interests: Competing interest statement: All authors are members of the Threatened Species Initiative Steering Committee., (Copyright © 2022 the Author(s). Published by PNAS.)
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- 2022
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8. Ethical, legal, and social issues in the Earth BioGenome Project.
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Sherkow JS, Barker KB, Braverman I, Cook-Deegan R, Durbin R, Easter CL, Goldstein MM, Hudson M, Kress WJ, Lewin HA, Mathews DJH, McCarthy C, McCartney AM, da Silva M, Torrance AW, and Greely HT
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- Animals, Biosecurity ethics, Biosecurity legislation & jurisprudence, Humans, Endangered Species legislation & jurisprudence, Ethics, Research, Genomics ethics, Genomics legislation & jurisprudence
- Abstract
The Earth BioGenome Project (EBP) is an audacious endeavor to obtain whole-genome sequences of representatives from all eukaryotic species on Earth. In addition to the project's technical and organizational challenges, it also faces complicated ethical, legal, and social issues. This paper, from members of the EBP's Ethical, Legal, and Social Issues (ELSI) Committee, catalogs these ELSI concerns arising from EBP. These include legal issues, such as sample collection and permitting; the applicability of international treaties, such as the Convention on Biological Diversity and the Nagoya Protocol; intellectual property; sample accessioning; and biosecurity and ethical issues, such as sampling from the territories of Indigenous peoples and local communities, the protection of endangered species, and cross-border collections, among several others. We also comment on the intersection of digital sequence information and data rights. More broadly, this list of ethical, legal, and social issues for large-scale genomic sequencing projects may be useful in the consideration of ethical frameworks for future projects. While we do not-and cannot-provide simple, overarching solutions for all the issues raised here, we conclude our perspective by beginning to chart a path forward for EBP's work., Competing Interests: The authors declare no competing interest., (Copyright © 2022 the Author(s). Published by PNAS.)
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- 2022
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9. CCR5 and Biological Complexity: The Need for Data Integration and Educational Materials to Address Genetic/Biological Reductionism at the Interface of Ethical, Legal, and Social Implications.
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Bauss J, Morris M, Shankar R, Olivero R, Buck LN, Stenger CL, Hinds D, Mills J, Eby A, Zagorski JW, Smith C, Cline S, Hartog NL, Chen B, Huss J, Carcillo JA, Rajasekaran S, Bupp CP, and Prokop JW
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- Databases, Genetic, Disease Resistance genetics, Evolution, Molecular, Genetic Predisposition to Disease, Genomics education, Genomics legislation & jurisprudence, Genomics methods, HIV Infections genetics, HIV Infections virology, HIV-1 metabolism, Humans, Information Dissemination ethics, Information Dissemination legislation & jurisprudence, Mutation, Missense, Receptors, CCR5 metabolism, Genomics ethics, HIV Infections prevention & control, HIV-1 pathogenicity, Receptors, CCR5 genetics, Virus Internalization
- Abstract
In the age of genomics, public understanding of complex scientific knowledge is critical. To combat reductionistic views, it is necessary to generate and organize educational material and data that keep pace with advances in genomics. The view that CCR5 is solely the receptor for HIV gave rise to demand to remove the gene in patients to create host HIV resistance, underestimating the broader roles and complex genetic inheritance of CCR5. A program aimed at providing research projects to undergraduates, known as CODE, has been expanded to build educational material for genes such as CCR5 in a rapid approach, exposing students and trainees to large bioinformatics databases and previous experiments for broader data to challenge commitment to biological reductionism. Our students organize expression databases, query environmental responses, assess genetic factors, generate protein models/dynamics, and profile evolutionary insights into a protein such as CCR5. The knowledgebase generated in the initiative opens the door for public educational information and tools (molecular videos, 3D printed models, and handouts), classroom materials, and strategy for future genetic ideas that can be distributed in formal, semiformal, and informal educational environments. This work highlights that many factors are missing from the reductionist view of CCR5, including the role of missense variants or expression of CCR5 with neurological phenotypes and the role of CCR5 and the delta32 variant in complex critical care patients with sepsis. When connected to genomic stories in the news, these tools offer critically needed Ethical, Legal, and Social Implication (ELSI) education to combat biological reductionism., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Bauss, Morris, Shankar, Olivero, Buck, Stenger, Hinds, Mills, Eby, Zagorski, Smith, Cline, Hartog, Chen, Huss, Carcillo, Rajasekaran, Bupp and Prokop.)
- Published
- 2021
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10. How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies.
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Klapwijk JE, Srebniak MI, Go ATJI, Govaerts LCP, Lewis C, Hammond J, Hill M, Lou S, Vogel I, Ormond KE, Diderich KEM, Brüggenwirth HT, and Riedijk SR
- Subjects
- Clinical Decision-Making, Disease Management, Female, Health Policy, Humans, Practice Guidelines as Topic, Pregnancy, Uncertainty, Genetic Association Studies methods, Genetic Predisposition to Disease, Genomics legislation & jurisprudence, Genomics methods, Prenatal Diagnosis methods
- Abstract
Exome sequencing (ES) enhanced the diagnostic yield of genetic testing, but has also increased the possibility of uncertain findings. Prenatal ES is increasingly being offered after a fetal abnormality is detected through ultrasound. It is important to know how to handle uncertainty in this particularly stressful period. This systematic review aimed to provide a comprehensive overview of guidelines available for addressing uncertainty related to prenatal chromosomal microarray (CMA) and ES. Ten uncertainty types associated with prenatal ES and CMA were identified and defined by an international multidisciplinary team. Medline (all) and Embase were systematically searched. Laboratory scientists, clinical geneticists, psychologists, and a fetal medicine specialist screened the papers and performed the data extraction. Nineteen papers were included. Recommendations generally emphasized the importance of trio analysis, clinical information, data sharing, validation and re-analysis, protocols, multidisciplinary teams, genetic counselling, whether to limit the possible scope of results, and when to report particular findings. This systematic review helps provide a vocabulary for uncertainties, and a compass to navigate uncertainties. Prenatal CMA and ES guidelines provide a strong starting point for determining how to handle uncertainty. Gaps in guidelines and recommendations were identified and discussed to provide direction for future research and policy making., (© 2021 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)
- Published
- 2021
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11. Computational tools for genomic data de-identification: facilitating data protection law compliance.
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Bernier A, Liu H, and Knoppers BM
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- Genomics legislation & jurisprudence, Humans, Computer Security standards, Confidentiality legislation & jurisprudence
- Published
- 2021
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12. Sorting Signed Permutations by Intergenic Reversals.
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Oliveira AR, Jean G, Fertin G, Brito KL, Bulteau L, Dias U, and Dias Z
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- Algorithms, INDEL Mutation genetics, Models, Genetic, Mutation genetics, DNA, Intergenic genetics, Gene Rearrangement genetics, Genomics legislation & jurisprudence
- Abstract
Genome rearrangements are mutations affecting large portions of a genome, and a reversal is one of the most studied genome rearrangements in the literature through the Sorting by Reversals (SbR) problem. SbR is solvable in polynomial time on signed permutations (i.e., the gene orientation is known), and it is NP-hard on unsigned permutations. This problem (and many others considering genome rearrangements) models genome as a list of its genes in the order they appear, ignoring all other information present in the genome. Recent works claimed that the incorporation of the size of intergenic regions, i.e., sequences of nucleotides between genes, may result in better estimators for the real distance between genomes. Here we introduce the Sorting Signed Permutations by Intergenic Reversals problem, that sorts a signed permutation using reversals both on gene order and intergenic sizes. We show that this problem is NP-hard by a reduction from the 3-partition problem. Then, we propose a 2-approximation algorithm for it. Finally, we also incorporate intergenic indels (i.e., insertions or deletions of intergenic regions) to overcome a limitation of sorting by conservative events (such as reversals) and propose two approximation algorithms.
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- 2021
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13. An international policy on returning genomic research results.
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Lewis ACF, Knoppers BM, and Green RC
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- Biomedical Research legislation & jurisprudence, Biomedical Research methods, Genetic Association Studies, Genomics methods, Humans, Internationality, Genomics legislation & jurisprudence, Policy, Research legislation & jurisprudence
- Abstract
The Global Alliance for Genomics and Health has approved a policy for the return of clinically actionable genomic research results, the first such policy approved by an international body. The policy acknowledges the potential medical benefits to millions of individuals who are participating in genomics research. It ties the pace of implementation to each country's clinical standards, including for the return of secondary findings, and urges funders to set aside resources to support responsible return., (© 2021. The Author(s).)
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- 2021
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14. Direct-to-consumer personal genomic tests need better regulation.
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Moneer O, Miller JE, Shah ND, and Ross JS
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- Humans, Genetic Privacy legislation & jurisprudence, Genetic Testing legislation & jurisprudence, Genome, Human genetics, Genomics legislation & jurisprudence
- Published
- 2021
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15. Ethical, Legal, and Social Issues (ELSI) in Clinical Genetics Research.
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Pullman D and Etchegary H
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- Canada, Ethics, Research, Genetic Research legislation & jurisprudence, Genome, Human, Humans, Public Policy, Publications ethics, Publications legislation & jurisprudence, Translational Research, Biomedical ethics, Translational Research, Biomedical legislation & jurisprudence, Genetic Research ethics, Genomics ethics, Genomics legislation & jurisprudence
- Abstract
ELSI (Ethical, Legal, and Social Issues) is a widely used acronym in the bioethics literature that encompasses a broad range of research examining the various impacts of science and technology on society. In Canada, GE
3 LS (Genetics, Ethical, Economic, Environmental, Legal, Social issues) is the term used to describe ELSI studies in the context of genetics and genomics research. It is intentionally more expansive in that GE3 LS explicitly brings economic and environmental issues under its purview. ELSI/GE3 LS research is increasingly relevant in recent years as there has been a greater emphasis on "translational research" that moves genomic discoveries from the bench to the clinic. The purpose of this chapter is to outline a range of ELSI-related work that might be conducted as part of a large scale genetics or genomics research project, and to provide some practical insights on how a scientific research team might incorporate a strong and effective ELSI program within its broader research mandate. We begin by describing the historical context of ELSI research and the development of GE3 LS research in the Canadian context. We then illustrate how some ELSI research might unfold by outlining a variety of GE3 LS research questions or content domains and the methodologies that might be employed in studying them. We conclude with some practical suggestions about how to build an effective ELSI/GE3 LS team and focus within a broader scientific research program.- Published
- 2021
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16. Challenges of Genetic Data Sharing in African Studies.
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Stein CM
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- Africa, Genomics legislation & jurisprudence, Humans, Information Dissemination methods, Genetic Research legislation & jurisprudence, Genomics standards, Information Dissemination legislation & jurisprudence
- Abstract
Data sharing is a valuable aspect of science and required by most funding bodies and journals. However, the national regulatory guidelines of many African nations do not explicitly allow for broad genetic data sharing. Given these restrictions, there is a need to reconsider these policies and propose creative solutions., (Copyright © 2020 Elsevier Ltd. All rights reserved.)
- Published
- 2020
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17. Informed Consent for Genetic and Genomic Research.
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Botkin JR
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- Disclosure legislation & jurisprudence, Genomics methods, Humans, Intellectual Property, Risk Factors, Exome Sequencing methods, Exome Sequencing statistics & numerical data, Whole Genome Sequencing methods, Whole Genome Sequencing statistics & numerical data, Genetic Research legislation & jurisprudence, Genome, Human genetics, Genomics legislation & jurisprudence, Informed Consent
- Abstract
Genetic research often utilizes or generates information that is potentially sensitive to individuals, families, or communities. For these reasons, genetic research may warrant additional scrutiny from investigators and governmental regulators, compared to other types of biomedical research. The informed consent process should address the range of social and psychological issues that may arise in genetic research. This article addresses a number of these issues, including recruitment of participants, disclosure of results, psychological impact of results, insurance and employment discrimination, community engagement, consent for tissue banking, and intellectual property issues. Points of consideration are offered to assist in the development of protocols and consent processes in light of contemporary debates on a number of these issues. © 2020 Wiley Periodicals LLC., (© 2020 Wiley Periodicals LLC.)
- Published
- 2020
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18. Analogies in Genomics Policymaking: Debates and Drawbacks.
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Lynch JA, Goldenberg AJ, Garrison NA, and Brothers KB
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- Diagnostic Imaging ethics, Disclosure legislation & jurisprudence, Genetic Testing legislation & jurisprudence, Genomics legislation & jurisprudence, Humans, Incidental Findings, Infant, Newborn, Sequence Analysis, DNA, Disclosure ethics, Genetic Testing ethics, Genomics ethics, Health Policy legislation & jurisprudence, Policy Making, Public Health ethics
- Abstract
The analogy between genomics and imaging has been an important touchstone in the debate on how secondary findings should be handled in both clinical and research genomics contexts. However, a critical eye is needed to understand whether an analogy like this one provides an adequate basis for policymaking in genomics. Genomics and imaging are undoubtedly similar in certain ways, but whether that similarity is adequate to justify adopting identical policies is a task that requires further analysis. This is highlighted by the fact that secondary findings are produced in other domains of medicine and public health, such as newborn screening programs, routine laboratory panels, and antibiotic sensitivity testing, and that the practices for handling secondary findings in each of these areas are different. These examples demonstrate that medicine has no single comprehensive policy or set of practices for managing secondary findings. Analogies to imaging, newborn screening, routine testing panels, and antibiotic sensitivity testing all lead to different policy options for genomics. In this piece we argue that analogies are a powerful way of driving policy discussions by rendering two different areas of medical practice similar, but an overdependence on a single analogy risks limiting policy discussions in potentially deleterious ways., (Copyright © 2020 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)
- Published
- 2020
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19. Ubuntu philosophy and the consensus regarding incidental findings in genomic research: a heuristic approach.
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Ewuoso C
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- Consensus, Genetic Counseling ethics, Genetic Counseling methods, Guidelines as Topic, Heuristics, Humans, Incidental Findings, Moral Obligations, Ethical Theory, Genomics ethics, Genomics legislation & jurisprudence, Philosophy, Medical
- Abstract
This study adopts a heuristic technique to argue the thesis that a set of norms rooted in the African philosophy of Ubuntu can usefully supplement current research guidelines for dealing with incidental findings discovered in genomic research. The consensus regarding incidental findings is that there is an ethical obligation to return individual genetic incidental findings that meet the threshold of analytic and clinical validity, have clinical utility, and are actionable, provided that research contributors have not opted out from receiving such information. This study outlines the hurdles that may hinder the integration of this consensus in mainstream clinical practice, and shows how an ethical theory from the global south may be used to address the same. This will advance the field of ethical, legal and social issues of personalized medicine by providing exposure to the under-represented African perspective on the ethical, legal, and social issues of genomics.
- Published
- 2020
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20. Looking Beyond GINA: Policy Approaches to Address Genetic Discrimination.
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Joly Y, Dupras C, Pinkesz M, Tovino SA, and Rothstein MA
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- Humans, Legislation, Medical, Prejudice, Genetic Privacy legislation & jurisprudence, Genetic Testing legislation & jurisprudence, Genomics ethics, Genomics legislation & jurisprudence, Public Policy
- Abstract
Concerns about genetic discrimination (GD) often surface when discussing research and innovation in genetics. Over recent decades, countries around the world have attempted to address GD using various policy measures. In this article, we survey these approaches and provide a critical commentary on their advantages and disadvantages. Our examination begins with regions featuring extensive policy-making activities (North America and Europe), followed by regions with moderate policy-making activities (Australia, Asia, and South America) and regions with minimal policy-making activities (the Middle East and Africa). Our analysis then turns to emerging issues regarding genetic testing and GD, including the expansion of multiomics sciences and direct-to-consumer genetic tests outside the health context. We additionally survey the shortcomings of current normative approaches addressing GD. Finally, we conclude by highlighting the evolving nature of GD and the need for more innovative policy-making in this area.
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- 2020
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21. Rethinking Omics Education in Brazil and South America: From Genomics to Multiomics and Critical Policy Studies.
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Dávila AMR
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- Brazil, Genomics legislation & jurisprudence, Genomics methods, Humans, Metabolomics legislation & jurisprudence, Metabolomics methods, Proteomics legislation & jurisprudence, Proteomics methods, South America, Genomics education, Metabolomics education, Proteomics education
- Published
- 2020
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22. Introduction: The Crucial Role of Law in Supporting Successful Translation of Genomics into Clinical Care.
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Wolf SM, Clayton EW, and Lawrenz F
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- Advisory Committees, Congresses as Topic, Humans, Translational Research, Biomedical, Delivery of Health Care standards, Genomics legislation & jurisprudence
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- 2020
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23. Letter From The Editor.
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Hutchinson T
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- Computers, Handheld, Congresses as Topic, Humans, Biomedical Research ethics, Genomics legislation & jurisprudence, Periodicals as Topic
- Published
- 2020
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24. The Future of DTC Genomics and the Law.
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Greely HT
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- Genetic Testing economics, Genetic Testing methods, Genetic Testing trends, Humans, United States, Direct-To-Consumer Screening and Testing economics, Direct-To-Consumer Screening and Testing legislation & jurisprudence, Direct-To-Consumer Screening and Testing trends, Genomics economics, Genomics legislation & jurisprudence, Genomics trends
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Direct-to-Consumer ("DTC") genomics has been a controversial topic for over a decade. Much work has been done on the legal issues it raises. This article asks a different question: What will DTC genomics and its legal issues look like in ten to twenty years? After discussing the five current uses of DTC genomics, it describes three current legal issues: medical uses, privacy of genomic information, and privacy in collection and analysis of human DNA. It then suggests that changes in human genomics and how it is used will make the first of those DTC genomics legal issues less important in the future, but that the third will be increasingly significant.
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- 2020
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25. Integrating Rules for Genomic Research, Clinical Care, Public Health Screening and DTC Testing: Creating Translational Law for Translational Genomics.
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Wolf SM, Ossorio PN, Berry SA, Greely HT, McGuire AL, Penny MA, and Terry SF
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- American Recovery and Reinvestment Act, Health Insurance Portability and Accountability Act, Humans, Infant, Newborn, Legislation as Topic, Neonatal Screening legislation & jurisprudence, Public Health, Quality Assurance, Health Care legislation & jurisprudence, United States, Direct-To-Consumer Screening and Testing legislation & jurisprudence, Genomics legislation & jurisprudence, Informed Consent legislation & jurisprudence, Liability, Legal, Privacy legislation & jurisprudence
- Abstract
Human genomics is a translational field spanning research, clinical care, public health, and direct-to-consumer testing. However, law differs across these domains on issues including liability, consent, promoting quality of analysis and interpretation, and safeguarding privacy. Genomic activities crossing domains can thus encounter confusion and conflicts among these approaches. This paper suggests how to resolve these conflicts while protecting the rights and interests of individuals sequenced. Translational genomics requires this more translational approach to law.
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- 2020
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26. Navigating the Intersection between Genomic Research and Clinical Practice.
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Daly MB
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- Bioethical Issues legislation & jurisprudence, Bioethical Issues standards, Consensus, Consent Forms, Decision Making, Disclosure legislation & jurisprudence, Disclosure standards, Ethics Committees, Research standards, Gene-Environment Interaction, Genetic Predisposition to Disease, Genetic Testing legislation & jurisprudence, Genetic Testing standards, Genomics legislation & jurisprudence, Genomics standards, Humans, Information Dissemination ethics, Information Dissemination legislation & jurisprudence, Medical History Taking, Neoplasms epidemiology, Neoplasms prevention & control, Registries ethics, Registries standards, Risk Assessment legislation & jurisprudence, Disclosure ethics, Genetic Testing ethics, Genomics ethics, Neoplasms genetics, Prospective Studies
- Abstract
The Risk Assessment Program (RAP) at Fox Chase Cancer Center (Philadelphia, PA) is a multi-generational prospective cohort, enhanced for personal and family history of cancer, consisting of over 10,000 individuals for whom data on personal and family history of cancer, risk factors, genetic and genomic data, health behaviors, and biospecimens are available. The RAP has a broad research agenda including the characterization of genes with known or potential relevance to cancer, gene-gene and gene-environment interactions, and their contribution to clinically useful risk assessment and risk reduction strategies. Increasingly, this body of research is identifying genetic changes which may have clinical significance for RAP research participants, leading us to confront the issue of whether to return genetic results emerging from research laboratories. This review will describe some of the important fundamental points that must be debated as we develop a paradigm for return of research results. The key issues to address as the scientific community moves toward adopting a policy of return of research results include the best criteria for determining which results to offer, the consent document components necessary to ensure that the participant makes a truly informed decision about receiving their results, and associated logistical and cost challenges. See all articles in this Special Collection Honoring Paul F. Engstrom, MD, Champion of Cancer Prevention ., (©2020 American Association for Cancer Research.)
- Published
- 2020
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27. How Can Law and Policy Advance Quality in Genomic Analysis and Interpretation for Clinical Care?
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Evans BJ, Javitt G, Hall R, Robertson M, Ossorio P, Wolf SM, Morgan T, and Clayton EW
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- Centers for Medicare and Medicaid Services, U.S., Humans, Laboratories legislation & jurisprudence, Medical Device Legislation, Software legislation & jurisprudence, United States, United States Food and Drug Administration, Genomics legislation & jurisprudence, Genomics methods, Genomics standards, High-Throughput Nucleotide Sequencing, Quality of Health Care, Sequence Analysis, DNA
- Abstract
Delivering high quality genomics-informed care to patients requires accurate test results whose clinical implications are understood. While other actors, including state agencies, professional organizations, and clinicians, are involved, this article focuses on the extent to which the federal agencies that play the most prominent roles - the Centers for Medicare and Medicaid Services enforcing CLIA and the FDA - effectively ensure that these elements are met and concludes by suggesting possible ways to improve their oversight of genomic testing.
- Published
- 2020
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28. The Streetlight Effect: Regulating Genomics Where the Light Is.
- Author
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Evans BJ
- Subjects
- Centers for Medicare and Medicaid Services, U.S., Health Insurance Portability and Accountability Act, Humans, Laboratories, Software, United States, United States Food and Drug Administration, Biomedical Technology legislation & jurisprudence, Genomics legislation & jurisprudence, Government Regulation
- Abstract
Regulatory policy for genomic testing may be subject to biases that favor reliance on existing regulatory frameworks even when those frameworks carry unintended legal consequences or may be poorly tailored to the challenges genomic testing presents. This article explores three examples drawn from genetic privacy regulation, oversight of clinical uses of genomic information, and regulation of genomic software. Overreliance on expedient regulatory approaches has a potential to undercut complete and durable solutions.
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- 2020
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29. From Genetics to Genomics: Facing the Liability Implications in Clinical Care.
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Marchant G, Barnes M, Evans JP, LeRoy B, and Wolf SM
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- Confidentiality, Disclosure, Health Insurance Portability and Accountability Act, Humans, Malpractice, Privacy, United States, Delivery of Health Care legislation & jurisprudence, Delivery of Health Care trends, Genomics legislation & jurisprudence, Genomics trends, Liability, Legal
- Abstract
Health care is transitioning from genetics to genomics, in which single-gene testing for diagnosis is being replaced by multi-gene panels, genome-wide sequencing, and other multi-genic tests for disease diagnosis, prediction, prognosis, and treatment. This health care transition is spurring a new set of increased or novel liability risks for health care providers and test laboratories. This article describes this transition in both medical care and liability, and addresses 11 areas of potential increased or novel liability risk, offering recommendations to both health care and legal actors to address and manage those liability risks.
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- 2020
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30. Key Expert Stakeholder Perceptions of the Law of Genomics: Identified Problems and Potential Solutions.
- Author
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Cheung FY, Clatch L, Wolf SM, Clayton EW, and Lawrenz F
- Subjects
- Adult, Advisory Committees, Confidentiality, Empirical Research, Female, Genomics trends, Humans, Liability, Legal, Male, Middle Aged, Privacy, Quality of Health Care, Standard of Care, Surveys and Questionnaires, United States, Genomics legislation & jurisprudence
- Abstract
The law applicable to genomics in the United States is currently in transition and under debate. The rapid evolution of the science, burgeoning clinical research, and growing clinical application pose serious challenges for federal and state law. Although there has been some empirical work in this area, this is the first paper to survey and interview key scientific and legal stakeholders in the field of genomics to help ground identification of the most important legal problems that must be solved to successfully integrate genomics into clinical care. The respondents in this study identified a wide range of interconnected issues, focusing specifically on the need for clear guidelines about how to use these data, fear of liability for those who use these data, and the need to protect patients from use of this information particularly by insurers, while endorsing data sharing. Developing legal strategies to support appropriate use of genomics now and in the future clearly will require making trade-offs, taking into account the full complexity of this legal ecosystem.
- Published
- 2020
- Full Text
- View/download PDF
31. Distributed Ledger Technology in genomics: a call for Europe.
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Thiebes S, Schlesner M, Brors B, and Sunyaev A
- Subjects
- Europe, Genetic Privacy standards, Genomics legislation & jurisprudence, Human Genetics legislation & jurisprudence, Human Genetics standards, Humans, Blockchain, Genomics standards
- Published
- 2020
- Full Text
- View/download PDF
32. Ethical priority of the most actionable system of biomolecules: the metabolome.
- Author
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Lewis CM Jr, McCall LI, Sharp RR, and Spicer PG
- Subjects
- Humans, Genomics ethics, Genomics legislation & jurisprudence, Genomics standards, Metabolome
- Abstract
The metabolome is a system of small biomolecules (metabolites) and a direct result of human bioculture. Consequently, metabolomics is well poised to impact anthropological and biomedical research for the foreseeable future. Overall, we provide a perspective on the ethical, legal, and social implications (ELSI) of metabolomics, which we argue are often more alarming than those of genomics. Given the current mechanisms to fund research, ELSI beyond human DNA is stifled and in need of considerable attention., (© 2019 The Authors. American Journal of Physical Anthropology published by Wiley Periodicals, Inc.)
- Published
- 2020
- Full Text
- View/download PDF
33. Clinical application of genomic high-throughput data: Infrastructural, ethical, legal and psychosocial aspects.
- Author
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Umbach N, Beißbarth T, Bleckmann A, Duttge G, Flatau L, König A, Kuhn J, Perera-Bel J, Roschauer J, Schulze TG, Schweda M, Urban A, Zimmermann A, and Sax U
- Subjects
- Genetic Counseling legislation & jurisprudence, Genetic Counseling standards, Genetic Testing legislation & jurisprudence, Genetic Testing standards, Genomics legislation & jurisprudence, Genomics standards, High-Throughput Screening Assays standards, Humans, Psychology, Genetic Counseling ethics, Genetic Testing ethics, Genomics ethics, High-Throughput Screening Assays ethics
- Abstract
Genomic high-throughput technologies (GHTT) such as next-generation sequencing represent a fast and cost-effective tool toward a more comprehensive understanding of the molecular background of complex diseases. However, technological advances contrast with insufficient application in clinical practice. Thus, patients, physicians, and other professionals are faced with tough challenges that forestall the efficient and effective implementation. With the increasing application of genetic testing, it is of paramount importance that physicians and other professionals in healthcare recognize the restrictions and potential of GHTT, in order to understand and interpret the complex data in the context of health and disease. At the same time, the growing volume and complexity of data is forever increasing the need for sustainable infrastructure and state-of-the-art tools for efficient data management, including their analysis and integration. The large pool of sensitive information remains difficult to interpret and fundamental questions spanning from billing to legal, social, and ethical issues have still not been resolved. Here we summarize and discuss these obstacles in an interdisciplinary context and suggest ways to overcome them. Continuous discussion with clinicians, data managers, biostatisticians, systems medicine experts, ethicists, legal scholars, and patients illuminates the strengths, weakness, and current practices in the pipeline from biomaterial to sequencing and data management. This discussion also highlights the new, cross-disciplinary working collaborations to realize the wide-ranging challenges in clinical genomics including the exceptional demands placed on the staff preparing and presenting the data, as well as the question as to how to report the data and results to patients., Competing Interests: Declaration of Competing Interest The authors declare that they have no competing interests., (Copyright © 2019. Published by Elsevier B.V.)
- Published
- 2020
- Full Text
- View/download PDF
34. Broad consent under the GDPR: an optimistic perspective on a bright future.
- Author
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Hallinan D
- Subjects
- Computer Security, Confidentiality, European Union, Humans, Biomedical Research legislation & jurisprudence, Genomics legislation & jurisprudence, Informed Consent legislation & jurisprudence
- Abstract
Broad consent - the act of gaining one consent for multiple potential future research projects - sits at the core of much current genomic research practice. Since the 25th May 2018, the General Data Protection Regulation (GDPR) has applied as valid law concerning genomic research in the EU and now occupies a dominant position in the legal landscape. Yet, the position of the GDPR concerning broad consent has recently been cause for concern in the genomic research community. Whilst the text of the GDPR apparently supports the practice, recent jurisprudence contains language which is decidedly less positive. This article takes an in-depth look at the situation concerning broad consent under the GDPR and - despite the understandable concern flowing from recent jurisprudence - offers a positive outlook. This positive outlook is argued from three perspectives, each of which is significant in defining the current, and ongoing, legitimacy and utility of broad consent under the GDPR: the principled, the legal technical, and the practical.
- Published
- 2020
- Full Text
- View/download PDF
35. Introduction to the Country Reports.
- Author
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Zawati MH
- Subjects
- Biomedical Research legislation & jurisprudence, Direct-To-Consumer Screening and Testing legislation & jurisprudence, Genomics legislation & jurisprudence, Humans, Internationality, Research Report, Surveys and Questionnaires
- Published
- 2019
- Full Text
- View/download PDF
36. Heritable Genome Editing and the Downsides of a Global Moratorium.
- Author
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Macintosh KL
- Subjects
- CRISPR-Cas Systems, Gene Editing legislation & jurisprudence, Genome, Genome, Human genetics, Genomics ethics, Genomics legislation & jurisprudence, Germ Cells metabolism, Germ Cells physiology, Government, Humans, Gene Editing ethics, Genetic Engineering ethics, Genetic Engineering legislation & jurisprudence
- Abstract
In 2018, Dr. He Jiankui reported that he had edited human embryos and transferred them to a woman, causing her to give birth to twin girls with modified genomes. An international group of scientists and ethicists responded by proposing a global moratorium on heritable genome editing (HGE). In this article, I oppose this proposal on several grounds. A global moratorium might encourage participating nations to ban HGE or postpone access to it indefinitely. It might also deter or delay basic research that could lead to safe and effective HGE. Lastly, a global moratorium might induce participating nations to adopt or maintain laws and regulations that stigmatize children born with modified genomes. As an alternative, I argue that nations should regulate HGE for safety and efficacy only and without distinguishing between therapeutic and enhancing modifications.
- Published
- 2019
- Full Text
- View/download PDF
37. Implementation of public health genomics in Pakistan.
- Author
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Riaz M, Tiller J, Ajmal M, Azam M, Qamar R, and Lacaze P
- Subjects
- Developed Countries, Developing Countries, Global Health, Health Policy, Humans, Pakistan, Public Health Surveillance, Research, Genomics legislation & jurisprudence, Genomics methods, Health Plan Implementation, Public Health legislation & jurisprudence, Public Health methods
- Abstract
There has been considerable recent progress in the implementation of public health genomics policy throughout the developed world. However, in the developing world, genetic services still remain limited, or unavailable to most. Here, we discuss challenges and opportunities related to the implementation of public health genomics in developing countries. We focus on Pakistan, a country with one of the world's highest rates of inter-family marriages and prevalence of inherited genetic conditions. Pakistan still lacks a national newborn screening programme, clinical genetic testing services, or public health genomics framework. The medical infrastructure in Pakistan, characterized by limited publicly-funded health services and a significant burden of infectious disease, may contribute to de-prioritization of genetic health services. In addition, there are a number of societal, cultural and religious factors to consider. Recently a number of large research studies have been conducted in populations of Pakistani descent, mostly in collaboration with major US, UK and European institutions. Some of these have yielded high-impact scientific findings, but have yet to translate into public health outcomes in Pakistan. Before the benefits of genomics can be realized in developing countries, the first initial steps towards strategic prioritization, resourcing, and long-term goal setting are required. We propose some practical recommendations and possible first steps forward.
- Published
- 2019
- Full Text
- View/download PDF
38. Democratic Governance of Human Germline Genome Editing.
- Author
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Jasanoff S, Hurlbut JB, and Saha K
- Subjects
- Genetic Engineering methods, Genome, Human genetics, Genomics ethics, Genomics legislation & jurisprudence, Germ Cells metabolism, Germ Cells physiology, Government, Humans, Gene Editing ethics, Gene Editing legislation & jurisprudence, Genetic Engineering legislation & jurisprudence
- Abstract
An international regulatory commission convened by scientific academies is a premature and problematic approach to governing human germline genome editing. Given the complex, international landscape of genome editing and significant cross-national differences among regulatory cultures, deferring to a single commission to set the agenda for global governance raises troublesome questions of framing and representation. Rather, democratic governance on a global level demands a new mechanism for active, sustained reflection by scientists on their own practices, conducted in partnership with scholars from other disciplines, as well as public representatives from varied social, political, and religious backgrounds. To be legitimate, ideas of the right form of governance in this emerging and highly consequential area of research need to be opened up to a wider diversity of views and voices.
- Published
- 2019
- Full Text
- View/download PDF
39. Genomic Research Through an Indigenous Lens: Understanding the Expectations.
- Author
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Garrison NA, Hudson M, Ballantyne LL, Garba I, Martinez A, Taualii M, Arbour L, Caron NR, and Rainie SC
- Subjects
- Australia, Canada, Genomics legislation & jurisprudence, Humans, New Zealand, Practice Guidelines as Topic, United States, Genomics ethics, Population Groups genetics
- Abstract
Indigenous scholars are leading initiatives to improve access to genetic and genomic research and health care based on their unique cultural contexts and within sovereign-based governance models created and accepted by their peoples. In the past, Indigenous peoples' engagement with genomicresearch was hampered by a lack of standardized guidelines and institutional partnerships, resulting in group harms. This article provides a comparative analysis of research guidelines from Canada, New Zealand, Australia, and the United States that pertain to Indigenous peoples. The goals of the analysis are to identify areas that need attention, support Indigenous-led governance, and promote the development of a model research policy framework for genomic research and health care that has international relevance for Indigenous peoples.
- Published
- 2019
- Full Text
- View/download PDF
40. International Divergence in Gene Patenting.
- Author
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Nicol D, Dreyfuss RC, Gold ER, Li W, Liddicoat J, and Van Overwalle G
- Subjects
- Genetics history, Genomics history, History, 20th Century, History, 21st Century, Humans, Genes, Genetics legislation & jurisprudence, Genomics legislation & jurisprudence, Patents as Topic
- Abstract
This review explores the recent divergence in international patent law relating to genes and associated subject matter. This divergence stems primarily from decisions of the highest courts in the United States and Australia on the eligibility of patent claims relating to the BRCA gene sequences. Patent offices, courts, and policy makers have struggled for many years to clearly articulate the bounds of patent claims on isolated and synthetic DNA and related products and processes, including methods for their use in genetic diagnostics. This review provides context to the current divergence by mapping key events in the gene patent journey from the early 1980s onward in five key jurisdictions: the United States, the member states of the European Patent Convention, Australia, Canada, and China. Early approaches to gene patenting had some commonalities across jurisdictions, which makes exploration of the recent divergence all the more interesting.There is insufficient empirical evidence to date to confidently predict the consequences of this recent divergence. However, it could potentially have a significant effect on local industry and on consumer access.
- Published
- 2019
- Full Text
- View/download PDF
41. Cases in Precision Medicine: Concerns About Privacy and Discrimination After Genomic Sequencing.
- Author
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Stiles D and Appelbaum PS
- Subjects
- Genetic Predisposition to Disease, Humans, United States, Genetic Counseling legislation & jurisprudence, Genetic Privacy legislation & jurisprudence, Genetic Testing legislation & jurisprudence, Genomics legislation & jurisprudence, Precision Medicine, Prejudice legislation & jurisprudence
- Abstract
Patients and research participants have indicated that privacy of their genetic test results is an important concern, particularly with respect to insurance coverage. Internists and other physicians whose patients ask about legal protections for information generated by genome sequencing for clinical purposes can provide both reassurance and caution. Protections for medical information in general, as well as laws in some states that provide additional safeguards for genetic data, should reassure patients that this information will remain private. Patients themselves will need to weigh the risks versus the benefits of generating genomic data in deciding whether to undergo exome sequencing.
- Published
- 2019
- Full Text
- View/download PDF
42. Genomics breeds new legal questions.
- Author
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Couzin-Frankel J
- Subjects
- Humans, United States, Genetic Testing legislation & jurisprudence, Genomics legislation & jurisprudence, Malpractice legislation & jurisprudence
- Published
- 2019
- Full Text
- View/download PDF
43. Return of individual genomic research results: are laws and policies keeping step?
- Author
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Thorogood A, Dalpé G, and Knoppers BM
- Subjects
- Genetic Research legislation & jurisprudence, Genomics legislation & jurisprudence, Humans, Policy, Genetic Research ethics, Genomics ethics, Whole Genome Sequencing ethics
- Abstract
Efforts are underway to harmonise the return of individual results and incidental findings from whole genome sequencing (WGS) across research contexts and countries. We reviewed international, regional and national laws and policies applying to return across 20 countries to identify areas of convergence and divergence. Discrepancies between laws and policies are most problematic where they cannot be reconciled through harmonisation of project-level governance. Rules for the return of results apply at different levels in different jurisdictions (e.g., human subjects research, biobanks, clinical trials, genomic sequencing, and genetic/personal data), complicating comparison. A particular concern for harmonisation are the (often contradictory) rules about when results must, should, may, or must not be returned. Adding confusion are different thresholds for utility (medical, familial, reproductive, and/or personal). The importance of respecting individual choices to know or not know is widely recognised, though some norms emphasise respect for personal preferences. Another troubling observation is that requirements for data quality, variant assessment, and the effective communication of results are evolving in uneven ways. There is a growing gap between researchers with the expertise, infrastructure, and resources to meet these requirements and those without, threatening international collaboration. Best practices for the return of individual genomic results are sorely needed to inform not only the ethical return of results, but also future legislative and policy efforts.
- Published
- 2019
- Full Text
- View/download PDF
44. Integrating Genomics into Psychiatric Practice: Ethical and Legal Challenges for Clinicians.
- Author
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Ward ET, Kostick KM, and Lázaro-Muñoz G
- Subjects
- Humans, Attitude of Health Personnel, Clinical Competence, Genomics ethics, Genomics legislation & jurisprudence, Genomics methods, Mental Disorders diagnosis, Mental Disorders genetics, Mental Disorders therapy, Mental Health Services ethics, Mental Health Services legislation & jurisprudence, Practice Guidelines as Topic, Psychiatry ethics, Psychiatry legislation & jurisprudence, Psychiatry methods
- Abstract
Psychiatric genomics is a rapidly growing field that holds much promise for improving risk prediction, prevention, diagnosis, treatment selection, and understanding of the pathogenesis of patients' symptoms. The field of psychiatry (i.e., professional organizations, mental health clinicians, educational institutions), however, needs to address numerous challenges to promote the responsible translation of genomic technologies and knowledge into psychiatric practice. The goal of this article is to review how clinicians currently encounter and use genomics in the clinic, to summarize the existing literature on how clinicians feel about the use of genomics in psychiatry, and to analyze foreseeable ethical and legal challenges for the responsible integration of genomics into psychiatric care at the structural and clinic levels. Structural challenges are defined as aspects of the larger system of psychiatric practice that constitute potential barriers to the responsible integration of genomics for the purposes of psychiatric care and prevention. These structural challenges exist at a level where professional groups can intervene to set standards and regulate the practice of psychiatry and genomics. Clinic-level challenges are day-to-day issues clinicians face when managing genomic tests in the clinic. We discuss the need for action to mitigate these challenges and maximize the clinical and social utility of psychiatric genomics, including the following: expanding genomics training among mental health clinicians; establishing practice guidelines that consider potential clinical, psychological, and social implications of psychiatric genomics; promoting an integrated care model for managing genomics in psychiatry; emphasizing patient engagement and informed consent when managing genomic testing in psychiatric care.
- Published
- 2019
- Full Text
- View/download PDF
45. Healthcare System-Funded Preventive Genomic Screening: Challenges for Australia and Other Single-Payer Systems.
- Author
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Lacaze P, Tiller J, and Winship I
- Subjects
- Adult, Australia, Cost-Benefit Analysis, Delivery of Health Care legislation & jurisprudence, Genomics legislation & jurisprudence, Health Policy economics, Health Policy legislation & jurisprudence, Humans, Single-Payer System legislation & jurisprudence, Delivery of Health Care economics, Genetic Testing economics, Genomics economics, Single-Payer System economics
- Abstract
The prospect of healthcare systems offering population-based preventive genomic testing to all adults is becoming feasible. Some single-payer or state-funded healthcare systems are already considering offering universal testing as part of routine care. In countries with public healthcare systems, there is a unique opportunity to provide such testing in the form of a national screening program, following existing national population health-screening frameworks. This paradigm, if achievable, could help deliver a degree of testing quality and equity-of-access that may not be possible in private-payer or direct-to-consumer models, to maximize prevention and health benefits. Here, we outline some of the major challenges ahead in considering this prospect and discuss the research that is helping shape the future direction in Australia and elsewhere., (© 2019 S. Karger AG, Basel.)
- Published
- 2019
- Full Text
- View/download PDF
46. Implementing a universal informed consent process for the All of Us Research Program.
- Author
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Doerr M, Grayson S, Moore S, Suver C, Wilbanks J, and Wagner J
- Subjects
- Cohort Studies, Computational Biology, Genetic Testing ethics, Genetic Testing legislation & jurisprudence, Genomics ethics, Genomics legislation & jurisprudence, Health Insurance Portability and Accountability Act ethics, Health Insurance Portability and Accountability Act legislation & jurisprudence, Humans, Longitudinal Studies, United States, Biomedical Research ethics, Biomedical Research legislation & jurisprudence, Informed Consent ethics, Informed Consent legislation & jurisprudence
- Abstract
The United States' All of Us Research Program is a longitudinal research initiative with ambitious national recruitment goals, including of populations traditionally underrepresented in biomedical research, many of whom have high geographic mobility. The program has a distributed infrastructure, with key programmatic resources spread across the US. Given its planned duration and geographic reach both in terms of recruitment and programmatic resources, a diversity of state and territory laws might apply to the program over time as well as to the determination of participants' rights. Here we present a listing and discussion of state and territory guidance and regulation of specific relevance to the program, and our approach to their incorporation within the program's informed consent processes.
- Published
- 2019
47. Sharing with Strangers: Governance Models for Borderless Genomic Research in a Territorial World.
- Author
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Juengst ET and Meslin EM
- Subjects
- Africa, Health Policy, Humans, Informed Consent ethics, International Cooperation, Ownership ethics, Privacy, Stakeholder Participation, United Kingdom, United States, Biomedical Research ethics, Biomedical Research legislation & jurisprudence, Genomics ethics, Genomics legislation & jurisprudence, Information Dissemination ethics, Information Dissemination legislation & jurisprudence
- Abstract
One of the practices that has defined the ethos of genomic research to date is a commitment to open and rapid sharing of genomic data and resources. As genomic research evolves into an international enterprise, this commitment is being challenged by the need to respect the interests of those it involves and implicates, from individual scientists and subjects to institutions and nations. In this essay, we first describe the types of claims that different stakeholders are making about the disposition of genomic data and samples. Next, we illustrate the complexities of these multiple claims by applying them to the case of one ongoing international genomics initiative, the H3Africa Consortium. Finally, in the light of these complexities, we conclude by comparing and contrasting four governance models for future international data-sharing policy and practices in genomics.
- Published
- 2019
- Full Text
- View/download PDF
48. Registered access: authorizing data access.
- Author
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Dyke SOM, Linden M, Lappalainen I, De Argila JR, Carey K, Lloyd D, Spalding JD, Cabili MN, Kerry G, Foreman J, Cutts T, Shabani M, Rodriguez LL, Haeussler M, Walsh B, Jiang X, Wang S, Perrett D, Boughtwood T, Matern A, Brookes AJ, Cupak M, Fiume M, Pandya R, Tulchinsky I, Scollen S, Törnroos J, Das S, Evans AC, Malin BA, Beck S, Brenner SE, Nyrönen T, Blomberg N, Firth HV, Hurles M, Philippakis AA, Rätsch G, Brudno M, Boycott KM, Rehm HL, Baudis M, Sherry ST, Kato K, Knoppers BM, Baker D, and Flicek P
- Subjects
- Genetics, Medical ethics, Genetics, Medical legislation & jurisprudence, Genomics ethics, Genomics legislation & jurisprudence, Humans, Licensure, Practice Guidelines as Topic, Access to Information, Genetics, Medical standards, Genomics standards, Information Dissemination
- Abstract
The Global Alliance for Genomics and Health (GA4GH) proposes a data access policy model-"registered access"-to increase and improve access to data requiring an agreement to basic terms and conditions, such as the use of DNA sequence and health data in research. A registered access policy would enable a range of categories of users to gain access, starting with researchers and clinical care professionals. It would also facilitate general use and reuse of data but within the bounds of consent restrictions and other ethical obligations. In piloting registered access with the Scientific Demonstration data sharing projects of GA4GH, we provide additional ethics, policy and technical guidance to facilitate the implementation of this access model in an international setting.
- Published
- 2018
- Full Text
- View/download PDF
49. The Bermuda Triangle: The Pragmatics, Policies, and Principles for Data Sharing in the History of the Human Genome Project.
- Author
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Maxson Jones K, Ankeny RA, and Cook-Deegan R
- Subjects
- Bermuda, Genomics legislation & jurisprudence, Genomics standards, History, 20th Century, History, 21st Century, Human Genome Project legislation & jurisprudence, Humans, Information Dissemination legislation & jurisprudence, Information Dissemination methods, United Kingdom, United States, Genomics history, Human Genome Project history, Information Dissemination history, Molecular Biology history, Organizational Policy
- Abstract
The Bermuda Principles for DNA sequence data sharing are an enduring legacy of the Human Genome Project (HGP). 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 (NIH) 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 (LMB) 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.
- Published
- 2018
- Full Text
- View/download PDF
50. China's crackdown on genetics breaches could deter data sharing.
- Author
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Cyranoski D
- Subjects
- Breast Neoplasms diagnosis, Breast Neoplasms genetics, China, DNA genetics, Genome, Human genetics, Genomics legislation & jurisprudence, Humans, Publishing legislation & jurisprudence, Drug Industry legislation & jurisprudence, Genetic Privacy legislation & jurisprudence, Information Dissemination legislation & jurisprudence
- Published
- 2018
- Full Text
- View/download PDF
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