Model consent clauses for rare disease research.

Background: Rare Disease research has seen tremendous advancements over the last decades, with the development of new technologies, various global collaborative efforts and improved data sharing. To maximize the impact of and to further build on these developments, there is a need for model consent clauses for rare diseases research, in order to improve data interoperability, to meet the informational needs of participants, and to ensure proper ethical and legal use of data sources and participants' overall protection.

Methods: A global Task Force was set up to develop model consent clauses specific to rare diseases research, that are comprehensive, harmonized, readily accessible, and internationally applicable, facilitating the recruitment and consent of rare disease research participants around the world.

European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death.

Sudden cardiac death (SCD) accounts for 10-20% of total mortality, i.e., one in five individuals will eventually die suddenly.

Responsible sharing of biomedical data and biospecimens via the "Automatable Discovery and Access Matrix" (ADA-M).

Given the data-rich nature of modern biomedical research, there is a pressing need for a systematic, structured, computer-readable way to capture, communicate, and manage sharing rules that apply to biomedical resources. This is essential for responsible recording, versioning, communication, querying, and actioning of resource sharing plans. However, lack of a common "information model" for rules and conditions that govern the sharing of materials, methods, software, data, and knowledge creates a fundamental barrier.

Barriers and Opportunities in Consent and Access Procedures in Low- and Middle-Income Country Biobanks: Meeting Notes from the BCNet Training and General Assembly.

As biobanking research in low- and middle-income countries (LMICs) continues to grow, novel legal and policy considerations have arisen. Also, while an expansive literature has developed around these issues, the views and concerns of individual researchers in these contexts have been less actively studied. These meeting notes aim to contribute to the growing literature on biobanking in LMICs by communicating a number of challenges and opportunities identified by biobank researchers themselves.

Simplifying research access to genomics and health data with Library Cards.

The volume of genomics and health data is growing rapidly, driven by sequencing for both research and clinical use. However, under current practices, the data is fragmented into many distinct datasets, and researchers must go through a separate application process for each dataset. This is time-consuming both for the researchers and the data stewards, and it reduces the velocity of research and new discoveries that could improve human health.

Epigenome-based cancer risk prediction: rationale, opportunities and challenges.

The incidence of cancer is continuing to rise and risk-tailored early diagnostic and/or primary prevention strategies are urgently required. The ideal risk-predictive test should: integrate the effects of both genetic and nongenetic factors and aim to capture these effects using an approach that is both biologically stable and technically reproducible; derive a score from easily accessible biological samples that acts as a surrogate for the organ in question; and enable the effectiveness of risk-reducing measures to be monitored. Substantial evidence has accumulated suggesting that the epigenome and, in particular, DNA methylation-based tests meet all of these requirements.

Consent Processes for Mobile App Mediated Research: Systematic Review.

Background: Since the launch of ResearchKit on the iOS platform in March 2015 and ResearchStack on the Android platform in June 2016, many academic and commercial institutions around the world have adapted these frameworks to develop mobile app-based research studies. These studies cover a wide variety of subject areas including melanoma, cardiomyopathy, and autism. Additionally, these app-based studies target a variety of participant populations, including children and pregnant women.

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

We are performing whole-genome sequencing of families with autism spectrum disorder (ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic factors involved. Here we report sequencing of 5,205 samples from families with ASD, accompanied by clinical information, creating a database accessible on a cloud platform and through a controlled-access internet portal. We found an average of 73.

Recontacting Pediatric Research Participants for Consent When They Reach the Age of Majority.

Because children are presumed to have insufficient cognitive ability to consent to participate in research, pediatric research raises particular ethical and legal issues. For children who have not reached the age of consent stipulated by law or policy, parents (or legal guardians) must authorize their participation. This paper explores the issue of whether, to satisfy the ethical and legal norms of consent for research, participants in pediatric studies who attain the age of majority after their parents or guardians enrolled them in a study should be “recontacted” to obtain their consent to remain in the study.

The international Genome sample resource (IGSR): A worldwide collection of genome variation incorporating the 1000 Genomes Project data.

The International Genome Sample Resource (IGSR; http://www.internationalgenome.org) expands in data type and population diversity the resources from the 1000 Genomes Project.

Next-Generation Sequencing and the Return of Results.

The impact of next-generation sequencing (NGS) on the issue of return of results is defying clear policy guidance and creating international confusion. Limiting ourselves to the return of results revealed by NGS (including incidental findings) in adults, children, family members of deceased individuals, and population studies, we describe and contrast emerging policy positions in Europe, Canada, and the United States. Until there are clear, scientific, and professional standards and practical policy, both researchers and clinicians cannot be faulted for being either hesitant or pressured to return NGS results.

A Comparative Analysis of the Legal and Bioethical Frameworks Governing the Secondary Use of Data for Research Purposes.

The secondary use of research and health data for purposes that differ from the original purpose of the collection is becoming a major trend in research, since it allows for the optimal use of already available resources, and reduces the costs of research activities. However, the consent provided at the time of the initial data collection might not have foreseen these new uses of the data. This is especially true for biobanks having collected data under a restricted or a disease-specific consent, and for data linkage, which allows researchers to combine research data with information from the medical record of participants.

Access Governance for Biobanks: The Case of the BioSHaRE-EU Cohorts.

Currently, researchers have to apply separately to individual biobanks if they want to carry out studies that use samples and data from multiple biobanks. This article analyzes the access governance arrangements of the original five biobank members of the Biobank Standardisation and Harmonisation for Research Excellence in the European Union (BioSHaRE-EU) project in Finland, Germany, the Netherlands, Norway, and the United Kingdom to identify similarities and differences in policies and procedures, and consider the potential for internal policy "harmonization." Our analysis found differences in the range of researchers and organizations eligible to access biobanks; application processes; requirements for Research Ethics Committee approval; and terms of Material Transfer Agreements relating to ownership and commercialization.

Developing an Ethical and Legal Interoperability Assessment Process for Retrospective Studies.

The past decade has witnessed the creation of major international research consortia, aiming to facilitate the sharing of data from different studies to maximize health benefits. However, combining heterogeneous data across existing studies requires addressing issues related to both data harmonization and ethical and legal interoperability. This article proposes a rigorous interoperability assessment process to assess whether different data sets are sufficiently ethically and legally interoperable to allow for a given proposed research use.

Data Safe Havens in health research and healthcare.

Motivation: The data that put the 'evidence' into 'evidence-based medicine' are central to developments in public health, primary and hospital care. A fundamental challenge is to site such data in repositories that can easily be accessed under appropriate technical and governance controls which are effectively audited and are viewed as trustworthy by diverse stakeholders. This demands socio-technical solutions that may easily become enmeshed in protracted debate and controversy as they encounter the norms, values, expectations and concerns of diverse stakeholders.

Genomic cloud computing: legal and ethical points to consider.

The biggest challenge in twenty-first century data-intensive genomic science, is developing vast computer infrastructure and advanced software tools to perform comprehensive analyses of genomic data sets for biomedical research and clinical practice. Researchers are increasingly turning to cloud computing both as a solution to integrate data from genomics, systems biology and biomedical data mining and as an approach to analyze data to solve biomedical problems. Although cloud computing provides several benefits such as lower costs and greater efficiency, it also raises legal and ethical issues.

P(3)G - 10 years of toolbuilding: From the population biobank to the clinic.

Over the past ten years, the Public Population Project in Genomics and Society ("P(3)G") has grown as a consortium. It has expanded its range of services and resources to adapt to the ever-evolving needs of the research community. From its outset - when P(3)G first tackled the building of biobanks as resources as well as data cataloguing and harmonization for data integration - to its new mission and vision, it has continually developed the tools for the conceptualization and design of population biobanks from their inception to their use to their closure.

Data harmonization and federated analysis of population-based studies: the BioSHaRE project.

Background: Individual-level data pooling of large population-based studies across research centres in international research projects faces many hurdles. The BioSHaRE (Biobank Standardisation and Harmonisation for Research Excellence in the European Union) project aims to address these issues by building a collaborative group of investigators and developing tools for data harmonization, database integration and federated data analyses.

Methods: Eight population-based studies in six European countries were recruited to participate in the BioSHaRE project.

Data sharing in large research consortia: experiences and recommendations from ENGAGE.

Data sharing is essential for the conduct of cutting-edge research and is increasingly required by funders concerned with maximising the scientific yield from research data collections. International research consortia are encouraged to share data intra-consortia, inter-consortia and with the wider scientific community. Little is reported regarding the factors that hinder or facilitate data sharing in these different situations.

Genotype-driven recruitment: a strategy whose time has come?

Background: Genotype-Driven Recruitment (GDR) is a research design that recruits research participants based on genotype rather than based on the presence or absence of a particular condition or clinical outcome. Analyses of the ethical issues of GDR studies, and the recommendations derived from these analyses, are based on GDR research designs that make use of genetic information already collected in previous studies. However, as genotyping becomes more affordable, it is expected that genotypic information will become a common part of the information stored in biobanks and held in health care records.

Population studies: return of research results and incidental findings Policy Statement.

The Public Population Project in Genomics and Society (P³G) is a not-for profit international consortium with members from more than 40 countries. Its objective is to lead, catalyze, and co-ordinate international efforts and expertise in order to optimize the use of population studies, biobanks, research databases, and other similar health and social science research infrastructures. The year 2011-2012 witnessed a plethora of special issues of journals on the return of results but few discussed the particular situation of population studies that serve as resources for future unspecified research.

The return of results of deceased research participants.

The death of a research participant raises numerous ethical and legal issues regarding the return of research results to related family members. This question is particularly acute in the context of genetic research since the research results from an individual may be relevant to each of the biological relatives. This paper first investigates the ethical and legal frameworks governing the return of a deceased participant's individual research results to his or her related family members.