ICGC and the Development of Controlled Access Policies Controlled access mechanisms may be viewed as the product of dual imperatives: 1) the legal and ethical requirements of regulators and research ...ethics committees, as well as research funders and study participants, to protect the confidentiality of data from re-identification and misuse by third parties; and 2) pressure, largely from within the science community, to protect data-producing investigators from acts of free riding by other members of the community (e.g., by ensuring they are properly acknowledged in publications and that no parasitic patents are deposited on the data by subsequent data users). Early models of databases having a two-tiered open/controlled access system included the database of Genotypes and Phenotypes (dbGaP) at the US National Institutes of Health (http://www.ncbi.nlm.nih.gov/gap), the Wellcome Trust Case Control Consortium (WTCCC) (http://www.wtccc.org.uk/), the Malaria Genomic Epidemiology Network (MalariaGEN) (http://www.malariagen.net/), and the European Genome-phenome Archive (EGA) (https://www.ebi.ac.uk/ega/).
Genetic discrimination (GD) is one of the most pervasive issues associated with genetic research and its large-scale implementation. An increasing number of countries have adopted public policies to ...address this issue. Our research presents a worldwide comparative review and typology of these approaches. We conclude with suggestions for public policy development.
Although there are a number of online platforms for patient-level clinical trial data sharing from industry sponsors, they are not very harmonized regarding the role of local ethics approval in the ...research proposal review process. The first and largest of these platforms is ClinicalStudyDataRequest.com (CSDR), which includes over three thousand trials from thirteen sponsors including GlaxoSmithKline, Novartis, Roche, Sanofi, and Bayer. CSDR asks applicants to state whether they have received ethics approval for their research proposal, but in most cases does not require that they submit evidence of approval. However, the website does require that applicants without ethical approval state the reason it was not required. In order to examine the perspectives of researchers on this topic, we coded every response to that question received by CSDR between June 2014 and February 2017. Of 111 applicants who stated they were exempt from ethics approval, 63% mentioned de-identification, 57% mentioned the use of existing data, 33% referred to local or jurisdictional regulations, and 20% referred to the approvals obtained by the original study. We conclude by examining the experience of CSDR within the broader context of the access mechanisms and policies currently being used by other data sharing platforms, and discuss how our findings might be used to help clinical trial data providers design clear and informative access documents.
Despite the plethora of empirical studies conducted to date, debate continues about whether and to what extent results should be returned to participants of genomic research. We aimed to ...systematically review the empirical literature exploring stakeholders' perspectives on return of individual research results (IRR) from genomic research. We examined preferences for receiving or willingness to return IRR, and experiences with either receiving or returning them. The systematic searches were conducted across five major databases in August 2018 and repeated in April 2020, and included studies reporting findings from primary research regardless of method (quantitative, qualitative, mixed). Articles that related to the clinical setting were excluded. Our search identified 221 articles that met our search criteria. This included 118 quantitative, 69 qualitative and 34 mixed methods studies. These articles included a total number of 118,874 stakeholders with research participants (85,270/72%) and members of the general public (40,967/35%) being the largest groups represented. The articles spanned at least 22 different countries with most (144/65%) being from the USA. Most (76%) discussed clinical research projects, rather than biobanks. More than half (58%) gauged views that were hypothetical. We found overwhelming evidence of high interest in return of IRR from potential and actual genomic research participants. There is also a general willingness to provide such results by researchers and health professionals, although they tend to adopt a more cautious stance. While all results are desired to some degree, those that have the potential to change clinical management are generally prioritized by all stakeholders. Professional stakeholders appear more willing to return results that are reliable and clinically relevant than those that are less reliable and lack clinical relevance. The lack of evidence for significant enduring psychological harm and the clear benefits to some research participants suggest that researchers should be returning actionable IRRs to participants.
Abstract
The right to benefit from science and its applications is one of the least studied, discussed and applied human rights. In the current time of globalization, characterized by the rapid ...advancement of science and its technological applications, as well as by increased flows of scientific data, there is a growing need to fully awaken the right of everyone to enjoy the benefits of science. This would enable science to better serve the humanitarian purposes of the law as well as foster scientific and technological development through data sharing. This article contributes to the awakening of the right by exploring it doctrinally with the aim of ascertaining its normative content by reference to the preparatory works of Article 15 of the International Covenant on Economic, Social and Cultural Rights and, especially, the subsequent state practice in its application. Based on the evidence, it will be argued that, today, the right to benefit from science has two aspects – first, the right to access scientific knowledge and information and, second, the right to benefit from scientific applications. It will be shown that the first aspect of the right is increasingly reflected in the practice of states and international organizations and has important implications for the regulation and sharing of big genomic data.
The aim of this Position Statement is to provide recommendations for Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and other physicians regarding the use of ...genome-wide sequencing of germline DNA in the context of clinical genetic diagnosis. This statement has been developed to facilitate the clinical translation and development of best practices for clinical genome-wide sequencing for genetic diagnosis of monogenic diseases in Canada; it does not address the clinical application of this technology in other fields such as molecular investigation of cancer or for population screening of healthy individuals.
Two multidisciplinary groups consisting of medical geneticists, clinical laboratory geneticists, genetic counsellors, ethicists, lawyers and genetic researchers were assembled to review existing literature and guidelines on genome-wide sequencing for clinical genetic diagnosis in the context of monogenic diseases, and to make recommendations relevant to the Canadian context. The statement was circulated for comment to the Canadian College of Medical Geneticists (CCMG) membership-at-large and, following incorporation of feedback, approved by the CCMG Board of Directors. The CCMG is a Canadian organisation responsible for certifying medical geneticists and clinical laboratory geneticists, and for establishing professional and ethical standards for clinical genetics services in Canada.
Recommendations include (1) clinical genome-wide sequencing is an appropriate approach in the diagnostic assessment of a patient for whom there is suspicion of a significant monogenic disease that is associated with a high degree of genetic heterogeneity, or where specific genetic tests have failed to provide a diagnosis; (2) until the benefits of reporting incidental findings are established, we do not endorse the intentional clinical analysis of disease-associated genes other than those linked to the primary indication; and (3) clinicians should provide genetic counselling and obtain informed consent prior to undertaking clinical genome-wide sequencing. Counselling should include discussion of the limitations of testing, likelihood and implications of diagnosis and incidental findings, and the potential need for further analysis to facilitate clinical interpretation, including studies performed in a research setting. These recommendations will be routinely re-evaluated as knowledge of diagnostic and clinical utility of clinical genome-wide sequencing improves. While the document was developed to direct practice in Canada, the applicability of the statement is broader and will be of interest to clinicians and health jurisdictions internationally.
Polygenic risk scores (PRSs) aggregate the many small effects of alleles across the human genome to estimate the risk of a disease or disease-related trait for an individual. The potential benefits ...of PRSs include cost-effective enhancement of primary disease prevention, more refined diagnoses and improved precision when prescribing medicines. However, these must be weighed against the potential risks, such as uncertainties and biases in PRS performance, as well as potential misunderstanding and misuse of these within medical practice and in wider society. By addressing key issues including gaps in best practices, risk communication and regulatory frameworks, PRSs can be used responsibly to improve human health. Here, the International Common Disease Alliance's PRS Task Force, a multidisciplinary group comprising expertise in genetics, law, ethics, behavioral science and more, highlights recent research to provide a comprehensive summary of the state of polygenic score research, as well as the needs and challenges as PRSs move closer to widespread use in the clinic.
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