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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:

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In August, the Global Alliance for Genomics and Health called for comment on their draft constitution. As a founding member of the Global Alliance, the Human Variome Project issued the following response.

Dear Professor Altshuler,

Human Variome Project International Limited (HVPI) welcomes the development of a draft Global Alliance for Genomics and Health (GA4GH) constitution for comment by participating organisations. Constitutions are important documents that lay the foundation for almost every part of an organisation’s existence and it bodes well that GA4GH has taken the laudable step of engaging in genuine consultation with its member organisations on this document. To further promote dialogue and discussion, we might suggest that the feedback that is received on this document be placed on a section of the GA4GH website, either publicly accessible or restricted to GA4GH member organisations.

We believe that the document, as it currently stands, is a good first step towards defining a constitution for the GA4GH. We are pleased to see that important concepts and principles such as collaboration, ethics, responsible data sharing, transparency and openness feature heavily in the document. We look forward to participating in the process of articulating the detail necessary to implement these concepts.

We recognise that there are areas that will require further consideration over time, some of which we will refer to in this response.

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Media Release
For Immediate Release

Paris, France, 21 May—The diverse range of human genomics research projects being undertaken by African institutions and researchers involved in the Human Hereditary and Health in Africa (H3Africa) Consortium was highlighted yesterday during the 5th Biennial Meeting of the Human Variome Project Consortium. The lead researchers from seven African nations involved in the H3Africa Consortium presented their ongoing work at a special session of the Human Variome Project meeting that was opened by Mdme Robertine Raonimahary, Director of the United Nations Educational, Scientific and Cultural Organisation’s (UNESCO) Africa Department Office for Cooperation and partnerships between Member States.

“It is no secret that Africa’s history has been marked by a development narrative in which the benefits from science, technology and innovation have been enjoyed by few,” said Raonimahary. “Today it is changing and Africa’s leaders view science, technology and innovation as critical to human development and global competitiveness and increasingly are investing more substantially in research, quality science education and upgrade of research and teaching infrastructure. Over the last few years the biggest revolution is occurring in genomic research. Nowadays Africans have the highest levels of genetic diversity within and among populations and the study of this diversity can contribute immensely to this area of science. First of all to reconstruct human demographic and evolutionary history, to study the African Diaspora and African ancestry globally, to study the genetic basis of susceptibility to communicable and non-communicable diseases and finally to understand differences in drug response.”

The projects being presented ran the gamut of human genomics research from identifying the genetic variants involved in the development of diseases primarily affecting individuals of African descent to investigating the underlying genomic components of susceptibility to infectious diseases such as trypanosomiasis. Researchers also reported on the development of a continent spanning bioinformatics capability and a network of state-of-the-art biorepositories.

Professor Raj Ramesar from the University of Cape Town, who chaired the session and sits on the H3Africa Steering Committee, said, “Twenty-seven African nations are currently involved in the H3Africa Consortium covering twenty research project n diseases of local relevance with funding in the order of US$74 million provided by the US National Institutes of Health and the UK Wellcome Trust. The session during the Human Variome Project meeting was directed at bringing the progress and results of these important projects to the attention of African governments and highlighting the current research impetus in their countries towards translating the outcomes of these projects for local utility.”

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19 November, 2013

Office of Science Policy
National Institutes of Health
6705 Rockledge Drive, Suite 750
Bethesda, MD 20892
GDS@mail.nih.gov.au

Submission regarding the Draft NIH Genomic Data Sharing Policy

1. Background to Submission

The Human Variome Project is an international consortium of scientists and healthcare professionals who are working towards a significant reduction in the burden of genetic disease on the world’s populations. The aim of the Human Variome Project is to ensure that all information on genetic variation can be collected, curated, interpreted and shared freely and openly. This will lead to speedier, better and cheaper diagnosis and treatment of genetic disorders, and better insight into the causes, severity and effect of common disease. The Human Variome Project achieves its aims by establishing and maintaining the necessary standards, systems and infrastructure, by providing education and training to scientists, clinicians, genetic counsellors, other healthcare professionals and the general public and by assisting nations build their capacity in medical genetics and genomics. The Human Variome Project acts as an umbrella organisation and works to encourage communication and collaboration around its central vision.

The importance of the Human Variome Project was recognised in 2011 by the United Nations Educational, Scientific and Cultural Organisation in the Project’s admittance to Consultative Partner status.

Media Release
For Immediate Release

Melbourne, 10 October - Efforts to fully document the full scale of human genetic variation and its role in illness and disease were boosted last week with the launch of the Human Variome Project South East Asian Node.

The Human Variome Project is an international initiative, coordinated from Melbourne, to ensure that discoveries about the human genome and how it affects our health are routinely shared in a free and open manner.. The Human Variome Project South East Asian Node will assist the national efforts of Malaysia, Brunei, Vietnam, Singapore and Thailand to share information on genetic variations in South East Asian populations between member nations and the rest of the world.

"This is a tremendous step forward for these countries," said Professor Richard Cotton from the University of Melbourne and Scientific Director of the Human Variome Project, who was present at the launch ceremony in Melaka, Malaysia on the third of October. "These countries obviously recognise that genetic and genomic healthcare is an important part of a well developed health system and they are serious about providing these services to their citizens."

Once thought to only contribute in a major way to a small subset of diseases that primarily affect children, genetics is now seen as being important to almost all areas of human health.

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Media Release
For Immediate Release

Melbourne, 23 August — The Human Variome Project International Coordinating Office are pleased to announce that Professor Sir John Burn, Deputy Chair of the Project’s International Scientific Advisory Committee will be delivering the 2013 R Douglas Wright Lecture at the University of Melbourne on Tuesday, 3 rd September, 2013.

Professor Sir Burn is currently the lead clinician for the UK National Health Service (North East), and genetics lead for the UK National Institute of Health Research. He was previously a director of the Institute of Genetic Medicine at The University of Newcastle-Upon-Tyne (2005-2010), and president of the European Society of Human Genetics (2007).

Professor Burn is widely regarded in the field of monogenic disorders particularly in establishing the genetic basis of a neurodegenerative disorder called neuroferritinopathy, and the major form of hereditary colorectal cancer called the Lynch syndrome. He led the study that demonstrated the use of aspirin in reducing the risk of colorectal and other cancers in persons with Lynch syndrome, and leads an international consortium investigating chemoprevention in persons with hereditary non-polyposis colon cancer.

He is currently exploring cell-based vaccines for colorectal cancer, and is involved in a startup company which aims to develop the use of nanowires, nanotubes and nanoribbons in genotyping and gene sequencing.

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The Human Variome Project International Coordinating Office are pleased to announce that Professor Sir John Burn, Deputy Chair of the Project’s International Scientific Advisory Committee will be delivering the 2013 R Douglas Wright Lecture at the University of Melbourne on Tuesday, 3rd September, 2013.

Genetic tests for diagnostic, predictive and screening purposes are a routine part of clinical care in most modern healthcare systems, and as we discover more about the genetic determinants of our health, we can expect genetic testing to become more prevalent. At the same time, new technological advancements, lower costs and increased training and education will see genetic testing spread rapidly into routine clinical practice in countries with, to date, less advanced healthcare systems.

Despite major advances that have allowed the technical portion of genetic testing to become routine, the interpretation of clinical sequencing results remains a major challenge given the enormous amount of rare and unique genetic variation in the human population. Enabling patients to optimally benefit from genetic testing will require major advances in our understanding of genetic variation and its impact on health and disease. Open data sharing of patient genotypes and phenotypes is necessary to achieve these advances.

The Human Variome Project believes that all laboratories that undertake genetic testing for diagnostic, prognostic or screening purposes must share the molecular and phenotypic data generated or collected in the course of testing in an appropriate public database. Not sharing this data prevents comparative assessments of variant interpretations, reduces consensus building, decreases the quality of test interpretations, and allows for potential harm to patients. To this end, the Human Variome Project fully supports the recent American College of Medical Genetics and Genomics Position Statement on Public Disclosure of Clinically Relevant Genome Variants (http://short.variome.org/acmg-crgv-statement).

Further, the Human Variome Project calls on national governments, regulatory bodies and professional societies to facilitate the free and open sharing of this information by reducing legislative and procedural barriers. While the Human Variome Project recognises the sensitive nature of genetic information and accompanying clinical data, and is aware of the ethical, legal and social issues inherent in its collection, storage and use, the Project also recognises that this same information is fundamental to the practice of genetic and genomic medicine. A balance must be struck between protecting individual privacy and establishing a body of evidence capable of providing life-saving medical intervention to the population at large.

Media Release
For Immediate Release

Paris, 10 June — Over 150 scientists, diplomats and interested members of the public paused today to commemorate and reflect on three important anniversaries that have dramatically shaped biomedical research and set the stage for the delivery of personalised healthcare. The event, "60 Years of DNA" held at the headquarters of the United Nations Educational Scientific and Cultural Organisation (UNESCO) in Paris, France and co-organised by the Human Variome Project and the UNESCO International Basic Sciences Program, celebrated the 60th anniversary of the discovery of the structure of DNA, and the 10th anniversaries of the completion of the Human Genome Project and the adoption of the International Declaration on Human Genetic Data.

In opening the event, Mr David Abraham, Chairman of the Board of Human Variome Project International, which operates the Project’s International Coordinating Office, reminded those present why these anniversaries deserve notice. “Genetics and genomics drastically impacts almost all aspects of human disease. 7 million children are born each year with a genetic disorder or birth defect; 90% of these children are from low income countries. We need better ways to share our genomic knowledge so that all people can share in the benefits of our common genetic heritage.”

The Human Variome Project is an international consortium of scientists and health professionals working to improve global health through the free and open sharing of genetic variation information. “The role of the HVP is to facilitate the collection, curation, interpretation and sharing of genetic variation information across the world,” said Abraham.

The Project has a proud working relationship with UNESCO. “Together we promote research to better understand and manage human disease, to share progress in human genetics across national boundaries and stimulate further breakthroughs,” said UNESCO Deputy Director-General, Mr Getachew Engida. “UNESCO is working to raise awareness among member states about the importance of genetic research especially for health. Governments and other players must invest far more in genetics and genomics. At the same time, we need greater cooperation across borders. Humanity has no choice but to move forward together.”

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Over 70 leading health care, research, and disease advocacy organizations, including the Human Variome Project announced today that they have taken the first steps to form an international alliance dedicated to enabling secure sharing of genomic and clinical data to improve research into the genetic basis of human disease.