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The dramatic decrease in the cost of genome sequencing over the last two decades has led to an abundance of genomic data. This data has been used in research related to the discovery of genetic diseases and the production of medicines. At the same time, the huge space for storing the genome (2–3 GB) has led to it being considered one of the most important sources of big data, which has prompted research centers concerned with genetic research to take advantage of the cloud and its services in storing and managing this data. The cloud is a shared storage environment, which makes data stored in it vulnerable to unwanted tampering or disclosure. This leads to serious concerns about securing such data from tampering and unauthorized searches by those involved. In addition to securing inquiries, making calculations on this data, and generating differential privacy and garbled circuits, cryptography is considered one of the important solutions to this problem. This paper introduces most of the important challenges related to maintaining privacy and security and classifies each problem with appropriate, proposed, or applied solutions that will fuel researchers' future interest in developing more effective privacy-preserving methods for genomic data.

The National Cancer Institute Genomic Data Commons (GDC) is an information system for storing, analyzing, and sharing genomic and clinical data from patients with cancer. The recent high-throughput sequencing of cancer genomes and transcriptomes has produced a big data problem that precludes many cancer biologists and oncologists from gleaning knowledge from these data regarding the nature of malignant processes and the relationship between tumor genomic profiles and treatment response. The GDC aims to democratize access to cancer genomic data and to foster the sharing of these data to promote precision medicine approaches to the diagnosis and treatment of cancer.

This study examines knowledge, attitudes, and communication practices toward genomic data sharing among principal investigators and research coordinators engaged in cancer and non-cancer studies. We conducted 25 individual semi-structured interviews and conducted a qualitative thematic analysis. Most interviewees had basic knowledge of data sharing requirements, but lacked specific details of recent changes to NIH policy. Principal investigators perceived more risks to participants for data sharing than the research coordinators who generally obtained consent. Interviewees perceived a trend toward providing fewer data sharing options to participants in the consent process, and had observed that parents of pediatric patients asked more questions than adult patients. Our findings highlight potential areas for improvement related to data sharing during consent processes.

Drawing on my population genomic research among several Caribbean communities, I consider how ongoing Caribbean reparations movements index genomic information. Specifically, I examine the intersection between genetic ancestry and calls for reparatory justice to gain insight into the ways that scientific data are utilized in social articulations of both racial and indigenous identity. I argue that when contextualized within complex historical and cultural frameworks, the application of genomic data complicates notions about biological continuity and belonging, yet is compatible with broader conceptualizations of how people imagine themselves and histories in relation to geographic origins.

Although large, complex genomic data sets are increasingly easy to generate, and the number of publicly available data sets in cancer and other diseases is rapidly growing, the lack of intuitive, easy to use analysis tools has remained a barrier to the effective use of such data. WebMeV (http://mev.tm4.org) is an open-source, web-based tool that gives users access to sophisticated tools for analysis of RNA-Seq and other data in an interface designed to democratize data access. WebMeV combines cloud-based technologies with a simple user interface to allow users to access large public data sets such as that from The Cancer Genome Atlas (TCGA) or to upload their own. The interface allows users to visualize data and to apply advanced data mining analysis methods to explore the data and draw biologically meaningful conclusions. We provide an overview of WebMeV and demonstrate two simple use cases that illustrate the value of putting data analysis in the hands of those looking to explore the underlying biology of the systems being studied.

The number of genetic factors associated with common human traits and disease is increasing rapidly, and the general public is utilizing affordable, direct-to-consumer genetic tests. The results of these tests are often in the public domain. A combination of factors has increased the potential for the indirect estimation of an individual's risk for a particular trait. Here we explain the basic principals underlying risk estimation which allowed us to test the ability to make an indirect risk estimation from genetic data by imputing Dr. James Watson's redacted apolipoprotein E gene <i>(APOE)</i> information. The principles underlying risk prediction from genetic data have been well known and applied for many decades, however, the recent increase in genomic knowledge, and advances in mathematical and statistical techniques and computational power, make it relatively easy to make an accurate but indirect estimation of risk. There is a current hazard for indirect risk estimation that is relevant not only to the subject but also to individuals related to the subject; this risk will likely increase as more detailed genomic data and better computational tools become available.

Animal genetic resources are important reservoirs of genetic diversity derived by distinct selection pressures or as result of adaptation to production conditions. The TREASURE project has investigated genetic variability in 20 European autochthonous pig breeds with the aim to describe their singularity, evaluate their adaptation, develop new methodologies for their management and identify DNA markers for breed allocation and meat authentication. Genomic data have been obtained by genotyping candidate gene markers and high density single nucleotide polymorphism arrays in ~48 animals from each breed and by whole genome resequencing. Description of genetic diversity has been obtained using several parameters. Runs of homozygosity and genomic inbreeding measures have been correlated with pedigree inbreeding coefficients. A few breed specific markers have been identified and applied. Genome wide association studies have identified genomic regions affecting unique phenotypes. This project represents one of the few examples of exploitation of genomic information that not only benefits the investigated animal genetic resources but also can provide useful information that could impact commercial populations. Funded by European Union's H2020 RIA program (grant agreement no. 634476).

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.

A proof of principle pharmacogenomic translational study was used as a case example to explore Biobank Community Advisory Board (CAB) member views about placing genomic information into the medical record and to establish how CAB input could affect research design. CAB members expressed enthusiasm for the potential benefit of the research discussed, yet voiced concerns regarding the recruitment and consent materials. They discussed the value of genomic research and its clinical utility; the risk of genetic discrimination; and personal ownership of genomic data. Members distinguished between indirect benefits to future generations and individual risk to research participants. Feedback was used to revise the recruitment and consent materials. Results highlight tensions reported between the public's support for genomic research and concerns with genomic information in the medical record and its use in medical decision-making.

<i>Background:</i> Technological advancements are rapidly propelling the field of genome research forward, while lawmakers attempt to keep apace with the risks these advances bear. Balancing normative concerns of maximizing data utility and protecting human subjects, whose privacy is at risk due to the identifiability of DNA data, are central to policy decisions. Research on genome research participants making real-time data sharing decisions is limited; yet, these perspectives could provide critical information to ongoing deliberations. <i>Methods:</i> We conducted a randomized trial of 3 consent types affording varying levels of control over data release decisions. After debriefing participants about the randomization process, we invited them to a follow-up interview to assess their attitudes toward genetic research, privacy and data sharing. <i>Results:</i> Participants were more restrictive in their reported data sharing preferences than in their actual data sharing decisions. They saw both benefits and risks associated with sharing their genomic data, but risks were seen as less concrete or happening in the future, and were largely outweighed by purported benefits. <i>Conclusion:</i> Policymakers must respect that participants' assessment of the risks and benefits of data sharing and their privacy-utility determinations, which are associated with their final data release decisions, vary. In order to advance the ethical conduct of genome research, proposed policy changes should carefully consider these stakeholder perspectives.

Children with rare and common diseases now undergo whole genome sequencing (WGS) in clinical and research contexts. Parents sometimes request access to their child's raw genomic data, to pursue their own analyses or for onward sharing with health professionals and researchers. These requests raise legal, ethical, and practical issues for professionals and parents alike. The advent of widespread WGS in pediatrics occurs in a context where privacy and data protection law remains focused on giving individuals control-oriented rights with respect to their personal information. Acting in their child's stead and in their best interests, parents are generally the ones who will be exercising these informational rights on behalf of the child. In this paper, we map the contours of parental authority to access their child's raw genomic data. We consider three use cases: hospital-based researchers, healthcare professionals acting in a clinical-diagnostic capacity, and "pure" academic researchers at a public institution. Our research seeks to answer two principal questions: Do parents have a right of access to their child's raw WGS data? If so, what are the limits of this right? Primarily focused on the laws of Ontario, Canada's most populous province, with a secondary focus on Canada's three other most populous provinces (Quebec, British Columbia, and Alberta) and the European Union, our principal findings include (1) parents have a general right of access to information about their children, but that the access right is more capacious in the clinical context than in the research context; (2) the right of access extends to personal data in raw form; (3) a consideration of the best interests of the child may materially limit the legal rights of parents to access data about their child; (4) the ability to exercise rights of access are transferred from parents to children when they gain decision-making capacity in both the clinical and research contexts, but with more nuance in the former. With these findings in mind, we argue ...