An international initiative to promote the sharing of standardised genetic and clinical data was revealed yesterday by the Wellcome Trust Sanger Institute.
The network of more than 60 healthcare, research and disease advocacy organisations have pledged to create a not-for-profit non-governmental organisation (NGO) - including both public and private organisations - that will develop a common framework for interpreting genetic data that adheres to high ethical and privacy standards.
It will be modelled on W3C, the organisation which develops open standards, protocols and design principles for the World Wide Web
The overall aim will be to integrate genetic and clinical information to "to reveal the genetic basis of cancer, inherited disease, infectious disease and drug responses", says a white paper published by the partners.
The Sanger Institute notes that the cost of genome sequencing has fallen one-million fold, and ever increasing numbers of people are making their genetic and clinical data available for research and clinical use.
In practice however, "we are not organized to seize this extraordinary opportunity, nor are we on a path to do so", says the paper, as data is on the whole currently collected and studied in silos.
The partners in the alliance will focus on the development of interoperable technical standards for managing and sharing sequence data in clinical samples and writing guidelines and standardised procedures for privacy and ethics.
The open standards will cover aspects such as secure storage of data, access and sharing controls, participant consent, data processing tools, common methods for interpretation of results and a computational and application programming interface that will support the development of apps and services.
"At present, it is generally not possible to predict which changes in DNA sequence lead to clinical consequences," commented Dr Tom Hudson of the International Cancer Genome Consortium, one of the founding partners in the initiative.
"Only by comparing each personal genome sequence to a large repository of other such data can robust patterns and relationships can be identified," he added. "The stakes are high, because if we get it right we can create new opportunities to define diagnostic categories, streamline clinical trials, and match patients to therapy."
