In August, the National Health and Medical Research Council in Australia called for comment on a draft of their "Draft Principles for the translation of ‘omics’-based tests from discovery to health care". The Human Variome Project International Scientific Committee submitted the following response.
Dear Professor Ward,
On behalf of the Human Variome Project International Scientific Advisory Committee, we congratulate you on the work of the National Health and Medical Research Council (NHMRC) Human Genetics Advisory Committee and the NHMRC Secretariat in producing the Principles for the translation of ‘omics’-based tests from discovery to health care and we welcome the opportunity to respond as part of the document’s public consultation. These are complex issues that many health systems and research funding bodies around the world are grappling with. We are pleased to have been invited by the NHMRC Secretariat to share the expertise of our members and provide an international perspective to these principles.
As you are well aware, the Human Variome Project is an international non-governmental organisation that is working to ensure that all information on genetic variation and its effect on human health can be collected, curated, interpreted and shared freely and openly.
The Human Variome Project provides a central coordinating function for national and international efforts to integrate the collection, curation, interpretation and sharing of information on variation in the human genome into routine clinical practice and research. We are an active and growing Consortium of over 1,100 individual researchers, healthcare professionals and policy makers and organisations from 81 countries that collaborate to develop and maintain the necessary standards, systems and infrastructure to support global scale genomic knowledge sharing. The Project itself is not directly involved in the development and operation of physical data storage and sharing infrastructure; that is the responsibility of international disease groups, national consortiums/health systems and individual members. Rather, the Project exists to assist these groups by:...