Can we know if donor trust expires? About trust relationships and time in the context of open consent for future data use

As donor trust legitimises research, trust is vital for research in the fields of biomedicine, genetics, translational medicine and personalised medicine. For parts of the donor community, the consent signature is a sign of trust in research. Many consent processes in biomedical research ask donors to provide their data for an unspecified future use, which introduces uncertainty of the unknown. This uncertainty can jeopardise donor trust or demand blind trust. But which donor wants to trust blindly? To reduce this uncertainty, we explore first, which future-proof actors donors could trust when signing a consent form. Second, we discuss the question Can we know if donor trust expires? and what prevents donor trust from expiring. Finally, we present possible measures that can help to nurture trust in the far future. In this article, we draw on our previous research on trust in biomedical research, on trust in the broader healthcare system and Niklas Luhmann’s and Anthony Giddens’ trust theories. Our findings suggest that, in the far future, researchers will need to consider donor autonomy, as well as societal norms and values of the time period in which the data were donated. They will need to find mechanisms where possible to publicly announce the use of old data sets. However, foremost researchers will need to treat the data respectfully. It remains vital that professionals and the society continue to elaborate on the norms and values that shape the common understanding of what is morally right and wrong when researching data.

Regulatory Environment for Biobanking in Estonia

The regulatory framework for biobanking in Estonia is fragmented. Whilst a specific law applies to the population-wide biobank, other entities engaged in biobanking are subject to rules stemming from various legal sources. In the case of the population biobank, participants give open consent for their data and tissue to be used in genetic research. Most other entities do not have the possibility to obtain open research consent for the use of personal data. However, national data protection law enables the use of personal data in research without the consent of individuals.In contrast, since no stricter requirements are set, open consent can be used when tissue is obtained directly from individuals for research purposes. However, if tissue is initially obtained for other (research) purposes, further research use requires written consent in the case of blood, while due notification will suffice for most other types of tissue.

The International Genome Sample Resource (IGSR) collection of open human genomic variation resources

To sustain and develop the largest fully open human genomic resources the International Genome Sample Resource (IGSR) (https://www.internationalgenome.org) was established. It is built on the foundation of the 1000 Genomes Project, which created the largest openly accessible catalogue of human genomic variation developed from samples spanning five continents. IGSR (i) maintains access to 1000 Genomes Project resources, (ii) updates 1000 Genomes Project resources to the GRCh38 human reference assembly, (iii) adds new data generated on 1000 Genomes Project cell lines, (iv) shares data from samples with a similarly open consent to increase the number of samples and populations represented in the resources and (v) provides support to users of these resources. Among recent updates are the release of variation calls from 1000 Genomes Project data calculated directly on GRCh38 and the addition of high coverage sequence data for the 2504 samples in the 1000 Genomes Project phase three panel. The data portal, which facilitates web-based exploration of the IGSR resources, has been updated to include samples which were not part of the 1000 Genomes Project and now presents a unified view of data and samples across almost 5000 samples from multiple studies. All data is fully open and publicly accessible.

INTRABRANCH PRINCIPLES OF GENETIC INFORMATION PROCESSING

The principles of emerging legislation devoted to the processing of genetic information take their place among the informal legal phenomena. The identification of these principles is the task of the legal science and, in particular, of data protection law. From the point of view of data protection law, the article presents a new author’s approach to the construction of the system of principles of the legal regulation of genetic information. These principles include: the principle of responsibility to future generations; the principle of freedom of scientific research; the principle of protection of human dignity; the principle of privacy. Genome protection is aimed not only at preserving the life and health of a particular person, but also at preserving the genome of his or her descendants. This makes it possible to consider the genome as a heritage of mankind. Freedom of scientific research in the field of genetics implies the freedom to study genetic information, but not the freedom to use it. With regard to scientific research of genetic information of representatives of a particular population, in addition to individual consent to the processing of such information, allowance is made for the consent expressed through the legitimate representatives of the groups or peoples concerned. The ideas of extended and open consent of the person to the processing of genetic information are analyzed. The conclusion is made about the necessity of fixing the system of principles of legal regulation in the field of genetic information processing in a special law «On genetic information.»

PGP-UK: a research and citizen science hybrid project in support of personalized medicine

Molecular analyses such as whole-genome sequencing have become routine and are expected to be transformational for future healthcare and lifestyle decisions. Population-wide implementation of such analyses is, however, not without challenges, and multiple studies are ongoing to identify what these are and explore how they can be addressed. Defined as a research project, the Personal Genome Project UK (PGP-UK) is part of the global PGP network and focuses on open data sharing and citizen science to advance and accelerate personalized genomics and medicine. Here we report our findings on using an open consent recruitment protocol, active participant involvement, open access release of personal genome, methylome and transcriptome data and associated analyses, including 47 new variants predicted to affect gene function and innovative reports based on the analysis of genetic and epigenetic variants. For this pilot study, we recruited ten participants willing to actively engage as citizen scientists with the project. In addition, we introduce Genome Donation as a novel mechanism for openly sharing previously restricted data and discuss the first three donations received. Lastly, we present GenoME, a free, open-source educational app suitable for the lay public to allow exploration of personal genomes. Our findings demonstrate that citizen science-based approaches like PGP-UK have an important role to play in the public awareness, acceptance and implementation of genomics and personalized medicine.

Reproducible integration of multiple sequencing datasets to form high-confidence SNP, indel, and reference calls for five human genome reference materials

Benchmark small variant calls from the Genome in a Bottle Consortium (GIAB) for the CEPH/HapMap genome NA12878 (HG001) have been used extensively for developing, optimizing, and demonstrating performance of sequencing and bioinformatics methods. Here, we develop a reproducible, cloud-based pipeline to integrate multiple sequencing datasets and form benchmark calls, enabling application to arbitrary human genomes. We use these reproducible methods to form high-confidence calls with respect to GRCh37 and GRCh38 for HG001 and 4 additional broadly-consented genomes from the Personal Genome Project that are available as NIST Reference Materials. These new genomes’ broad, open consent with few restrictions on availability of samples and data is enabling a uniquely diverse array of applications. Our new methods produce 17% more high-confidence SNPs, 176% more indels, and 12% larger regions than our previously published calls. To demonstrate that these calls can be used for accurate benchmarking, we compare other high-quality callsets to ours (e.g., Illumina Platinum Genomes), and we demonstrate that the majority of discordant calls are errors in the other callsets, We also highlight challenges in interpreting performance metrics when benchmarking against imperfect high-confidence calls. We show that benchmarking tools from the Global Alliance for Genomics and Health can be used with our calls to stratify performance metrics by variant type and genome context and elucidate strengths and weaknesses of a method.

Propuestas para “democratizar” los beneficios de los biobancos en América Latina

ResumenEl desarrollo de biobancos conlleva diversas interrogantes. Nuestro objetivo se circunscribe a cuestiones de confidencialidad y confianza pública en la ciencia y las instituciones. Un problema actual y acuciante en investigaciones biomédicas transnacionales, es la recolección de muestras para almacenamiento y exportación con consentimientos abiertos, con riesgo de violación de la privacidad personal. La necesidad de contar con biobancos para investigación, de proteger el reparto de beneficios de la investigación y la participación de las minorías étnicas presentes en América Latina, nos lleva a proponer una democratización de los biobancos sobre la base de la estructura de Derechos Humanos de la Región, representada por el Pacto de San José de Costa Rica.Palabras clave: Democratizar, biobanco, privacidad, confidencialidad, datos sensibles, muestras biológicas, investigaciones biomédicas transnacionales, dignidad.***************************************************Proposal to “democratize” the benefits of bio-banks in Latin AmericaAbstractThe development of bio-banks carries several questions. Our objective is delimited to confidentiality and public trust issues regarding science and institutions. A current and acute problem in bio-medical international research is the collection of samples for storage and exportation with open consent, with risk of violation of personal privacy. The need to count on research bio-banks, to protect the distribution of research benefits and assuring the participation of Latin American ethnic minorities take us to propose the “democratization” of bio-banks based on the Human rights structure of the region, represented by the Pact of San Jose, Costa Rica. Key words: democratize, bio-bank, privacy, confidentiality, sensitive data, biological samples, transnational biomedical research, dignity.***************************************************Propostas para democratizar os benefícios dos biobancos em América LatinaResumoO desenvolvimento dos biobancos implica diversos interrogantes. Nosso objetivo se circunscreve a questões de confidencialidade e confiança pública na ciência e nas instituições. Um problema atual e urgente nas investigações biomédicas transnacionais é a coleta de mostras para armazenamento e exportação com consentimentos abertos, com riscos de violação de privacidade pessoal. A necessidade de contar com biobancos para investigação, de proteger o reparto de benefícios da pesquisa e a participação das minorias étnicas presentes na América Latina nos leva a propor uma democratização dos biobancos sobre a base da estrutura dos direitos humanos da região, representada pelo Pacto de San José de Costa Rica. Palavras chave: Democratizar, biobanco, privacidade, confidencialidade, dados sensíveis, amostras biológicas, investigações biomédicas transnacionais, dignidade.