Launched last year, the
Global Alliance brings together over 140 partner organisations (including the PHG Foundation) and is intended to ‘accelerate the potential of genomic medicine to advance human health’ by creation of a common framework for responsible, voluntary and secure sharing of genomic and clinical data.
The meeting report lists cross-cutting aims that emerged for the alliance as:
- Facilitate and Connect - facilitating knowledge sharing.
- Build on Best Practice – disseminating existing best practices, and creating new ones where necessary.
- Be Agile and Innovative – as opposed to bureaucratic.
- Engage and Empower - engaging interested individuals and stakeholders, and
- educating the public
- Increase Diversity - increasing wider international participation, including developing countries.
The Clinical Working Group (CWG)
, having mapped current approaches to phenotype classification and sharing, data harmonization, biomedical informatics data extraction from electronic health records, has set deliverables for 2014 of:
- A comprehensive review of current tools, databases, and initiatives
- Work to identify and fill gaps in existing phenotype databases and standards
- Enhancing data sharing for patient diagnosis and enabling gene discovery
- Attempting to define genotype-phenotype relationships for specific genes
- Knowledge sharing and engagement with clinicians and scientists
that can be adapted to specific contexts, with defined levels of risk/benefit from different applications of data sharing with corresponding levels of protection. It will also define standards for ‘authenticating the identity of individuals across multiple institutions’; for example, an international ‘researcher passport’ identify check system.
- Drafting an International Code of Conduct for Genomic and Health-Related Data Sharing
- Developing a ‘safe harbour’ for international ethics review
- Linking with the SWG and building a security architecture and ‘data
- safe havens’ for genomic and clinical data sharing
- Developing core elements of consent to enable responsible data sharing
- Tracking and providing rapid responses to data protection regulation developments
Finally, the Data Working Group (DWG) aims to coordinate the development of genomic data models and application programming interfaces (APIs) – initially by overseeing current format standards (BAM, CRAM, and VCF files) but ultimately producing new ones suitable for global, cloud-based environments. APIs said to be required are for sequence reference including common variants, against which individual genome sequences can be mapped; read data, raw sequence data; expression, epigenetic and other functional data; and metadata, general information including tissue source, date and so on.