Leveraging European infrastructures to access 1 million human genomes by 2022.

Human genomics is undergoing a step change from being a predominantly research-driven activity to one driven through health care as many countries in Europe now have nascent precision medicine programmes. To maximize the value of the genomic data generated, these data will need to be shared between institutions and across countries. In recognition of this challenge, 21 European countries recently signed a declaration to transnationally share data on at least 1 million human genomes by 2022. In this Roadmap, we identify the challenges of data sharing across borders and demonstrate that European research infrastructures are well-positioned to support the rapid implementation of widespread genomic data access.

Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

ClinGen advancing genomic data-sharing standards as a GA4GH driver project.

The Clinical Genome Resource (ClinGen)'s work to develop a knowledge base to support the understanding of genes and variants for use in precision medicine and research depends on robust, broadly applicable, and adaptable technical standards for sharing data and information. To forward this goal, ClinGen has joined with the Global Alliance for Genomics and Health (GA4GH) to support the development of open, freely-available technical standards and regulatory frameworks for secure and responsible sharing of genomic and health-related data. In its capacity as one of the 15 inaugural GA4GH "Driver Projects," ClinGen is providing input on the key standards needs of the global genomics community, and has committed to participate on GA4GH Work Streams to support the development of: (1) a standard model for computer-readable variant representation; (2) a data model for linking variant data to annotations; (3) a specification to enable sharing of genomic variant knowledge and associated clinical interpretations; and (4) a set of best practices for use of phenotype and disease ontologies. ClinGen's participation as a GA4GH Driver Project will provide a robust environment to test drive emerging genomic knowledge sharing standards and prove their utility among the community, while accelerating the construction of the ClinGen evidence base.

Equity, diversity, and inclusion at the Global Alliance for Genomics and Health.

A lack of diversity in genomics for health continues to hinder equitable leadership and access to precision medicine approaches for underrepresented populations. To avoid perpetuating biases within the genomics workforce and genomic data collection practices, equity, diversity, and inclusion (EDI) must be addressed. This paper documents the journey taken by the Global Alliance for Genomics and Health (a genomics-based standard-setting and policy-framing organization) to create a more equitable, diverse, and inclusive environment for its standards and members. Initial steps include the creation of two groups: the Equity, Diversity, and Inclusion Advisory Group and the Regulatory and Ethics Diversity Group. Following a framework that we call "Reflected in our Teams, Reflected in our Standards," both groups address EDI at different stages in their policy development process.

International federation of genomic medicine databases using GA4GH standards.

We promote a shared vision and guide for how and when to federate genomic and health-related data sharing, enabling connections and insights across independent, secure databases. The GA4GH encourages a federated approach wherein data providers have the mandate and resources to share, but where data cannot move for legal or technical reasons. We recommend a federated approach to connect national genomics initiatives into a global network and precision medicine resource.

GA4GH: International policies and standards for data sharing across genomic research and healthcare.

The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular assays) and increasing evidence of its clinical utility will soon drive the generation of sequence data from tens of millions of humans, with increasing levels of diversity. In this perspective, we present the GA4GH strategies for addressing the major challenges of this data revolution. We describe the GA4GH organization, which is fueled by the development efforts of eight Work Streams and informed by the needs of 24 Driver Projects and other key stakeholders. We present the GA4GH suite of secure, interoperable technical standards and policy frameworks and review the current status of standards, their relevance to key domains of research and clinical care, and future plans of GA4GH. Broad international participation in building, adopting, and deploying GA4GH standards and frameworks will catalyze an unprecedented effort in data sharing that will be critical to advancing genomic medicine and ensuring that all populations can access its benefits.

Publisher Correction: Federated discovery and sharing of genomic data using Beacons.

In the version of this article initially published, Lena Dolman's second affiliation was given as Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK. The correct second affiliation is Ontario Institute for Cancer Research, Toronto, Ontario, Canada. The error has been corrected in the HTML and PDF versions of the article.

From the Data on Many, Precision Medicine for "One": The Case for Widespread Genomic Data Sharing.

Within the decade, genome sequencing promises to become a routine part of healthcare around the globe. Many millions of genomes linked to health records will soon be available for researchers and clinicians to make use of to advance precision medicine. To realise the full impact of genomic medicine, genomic and clinical data must be interoperable across traditional geographic, jurisdictional, sectoral, and domain boundaries. Extremely large and diverse data sets are needed to provide a context for interpretation of genetic sequences. No single country or institution can achieve the necessary scale and diversity alone. Data must be shared within an internationally federated, learning health system.

Physical Activity and Pediatric Obesity: A Quantile Regression Analysis.

PURPOSE: We aimed to determine whether moderate to vigorous physical activity (MVPA) and sedentary behavior (SB) were independently associated with body mass index (BMI) and waist circumference (WC) in children and adolescents. METHODS: Data from the International Children's Accelerometry Database were used to address our objectives (N = 11,115; 6-18 yr; 51% female). We calculated age- and gender-specific BMI and WC z-scores and used accelerometry to estimate MVPA and total SB. Self-reported television viewing was used as a measure of leisure time SB. Quantile regression was used to analyze the data. RESULTS: MVPA and total SB were associated with lower and higher BMI and WC z-scores, respectively. These associations were strongest at the higher percentiles of the z-score distributions. After including MVPA and total SB in the same model, the MVPA associations remained, but the SB associations were no longer present. For example, each additional hour per day of MVPA was not associated with BMI z-score at the 10th percentile (b = -0.02, P = 0.170) but was associated with lower BMI z-score at the 50th (b = -0.19, P < 0.001) and 90th percentiles (b = -0.41, P < 0.001). More television viewing was associated with higher BMI and WC, and the associations were strongest at the higher percentiles of the z-score distributions, with adjustment for MVPA and total SB. CONCLUSIONS: Our observation of stronger associations at the higher percentiles indicates that increasing MVPA and decreasing television viewing at the population-level could shift the upper tails of the BMI and WC frequency distributions to lower values, thereby lowering the number of children and adolescents classified as obese.

Avatar-assisted case studies.

Engaging students in active techniques that promote learning and socialization in nursing may be achieved using Voki technology. The authors discuss a project, and its outcomes, that used avatar-assisted case studies. Instructors looking for a new teaching technology that can be integrated into case studies are encouraged to explore this venue as an active learning technology.