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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.

Introduction

The Human Variome Project Consortium believes that the free and open sharing of human genetic variation information will lead to improved health outcomes for all people worldwide. We also believe that the most efficient and effective means for sharing this information is via a network of gene/disease specific databases, as described by the Project’s Global Collection Architecture.

To ensure the fullest dissemination of variation information to the genetics community, we believe that all sequence variants reported in journal articles should not only be fully and accurately described within the articles that report them, but also deposited into the appropriate gene/disease specific databases prior to publication.

We acknowledged that some journals already share these values but the adoption and implementation of appropriate guidelines for manuscript authors is patchy, especially with respect to the submission of data to databases. The Human Variome Project Consortium strongly encourages all journal editors to enforce a strict, mandatory policy that all variants be correctly described and deposited into variant databases prior to publication. Such a policy is already enforced by Human Mutation and other journals represented in the Human Variome Project’s Journal Editors Interest Group, and appears to be working effectively.

This Statement lays out the ideal scope of such a policy. We do, however, recognise that some journals will be unable to impose all aspects of this statement.

The Human Variome Project is currently working with the World Health Organization (WHO) and other partners on a consultation to determine the feasibility of establishing a global program on human genomics and public health.

Paris, 12 June — During the opening session of its 4 th Biennial Meeting today, the Human Variome Project announced the establishment of a major grant program to be administered in collaboration with the Human Variome Project Chinese Node. The Human Variome Project/China Country Development Program will provide grants of $75,000 to projects that promote knowledge exchange across national boundaries in the areas of medical genetics and genomics.

“Now, more than ever, we are living in a world where our individual genetic makeup will determine the course of the medical treatment we will undergo,” said Professor Xitao Li, Director of the Human Variome Project Chinese Node and a member of the Board of Directors for the
International Human Variome Project, while announcing the HVPCCDP. “But more importantly, we are living in a world that is beginning to realise that every piece of information discovered about our genes and their function will have tremendous impact on a number of people all around the world.”

The aim of the Human Variome Project/China Country Development Program is to support the growth of a viable, sustainable network of HVP Country Nodes across the world. This growing network will support the achievement of the broader aims of the Human Variome Project
including ensuring that all information on genetic variation can be collected, curated, interpreted and shared freely and openly, and that this open sharing will result in speedier, better and cheaper diagnosis and treatment of genetic disorders.

“By focusing on projects involving partnerships of art least two countries we will increase opportunities for collaboration in the field of medical genetic and genomics. In particular, we want to build and strengthen existing collaborations between HVP Consortium members that
have been operating for some time,” said Li.

ENDS

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Project Roadmap 2012-2016, the Human Variome Project's strategic plan for the next four years, was released today during the opening of the 4th Biennial Meeting of the Human Variome Project. The Roadmap Sets the goals and targets for Project activities and lays out strategies for their attainment.

The Roadmap is available from the Human Variome Project website.

The Human Variome Project, in conjunction with the Human Variome Project Chinese Node, announced today, during the opening of the 4th Biennial Meeting of the Human Variome Project Consortium, a major new grants program to support activities undertaken by members of the Human Variome Project Consortium to build capacity around medical genetics and genomics and share knowledge across national borders.

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The 4th Biennial Meeting of the Human Variome Project began today at the Headquarters of the United Nations Education, Scientific and Cultural Organisation in Paris, France.

Mr Chairman, fellow Board members, members of the Human Variome Project Consortium.

Last November, the Human Variome Project held the first ever meeting of the International Confederation of Countries Advisory Council in my home city of Beijing. Representatives from all twelve HVP Country Nodes, as well as representatives from many human genetics societies, met to discuss one thing: how to get information on genetic variants and their effect on patients out of countries and into international databases so that global health can be improved.

It is a difficult problem, and it is a problem that we must solve together in order for the Human Variome Project to be judged a success. Our genome is the common thread that binds humanity. Information about our genome must therefore belong to all of humanity. There is no way to justify the retention of this information within national borders. No one country can discover all there is to know about our genome on their own. No one country has a large enough population to find anywhere near the total amount of variation possible. It is only by working together that we will know enough to make a difference to human health.

But this information does not exist in a vacuum. It must be generated. DNA must be sequenced, variants must be classified and phenotypes described. And it is an unfortunate reality that not every country has the technical or knowledge capacity to be able to do this routinely and effectively. Usually, as I’m sure we can all agree, diversity is a thing to be celebrated. But the huge diversity that is present in the world’s ability to provide adequate genetic healthcare is a problem and needs to be improved.

If we look to the mission of the Human Variome Project, it states that we are working to alleviate needless human suffering for many millions of the world’s people by facilitating the collection, curation, interpretation and sharing of data on genetic variation. This facilitation can come in many forms. Yes we are primarily concerned with producing standards and guidelines for databases. But the Human Variome Project has always recognised the need to assist researchers and healthcare professionals who are working to build capacity in their own countries.

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Media Release
For Immediate Release

Q1: Why is the Human Variome Project Meeting?

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. Every two years the Consortium meets to discuss, debate and decode
on plans and priorities for the next two years.

These meetings have been occurring since the Human Variome Project was initiated in 2006. Since 2010, the meeting has been held at the headquarters of the United Nations Education, Scientific and Cultural Organisation in Paris, France.

Q2: What will happen at the meeting?

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Today is a sad day. Our colleague, collaborator, champion and friend, Professor David Rimoin, Inaugural Chair of our International Scientific Advisory Committee, passed away after a brief battle with pancreatic cancer.

David was a true friend of the Human Variome Project. Despite his many other commitments: Director of the Medical Genetics Institute and Steven Spielberg Family Chair in Pediatrics Cedars-Sinai, Professor of Pediatrics, Medicine, and Human Genetics at the David Geffen School of Medicine at the University of California, Los Angeles, David's support and work for the Human Variome Project was tireless. David's tenure as the first Chair of the Project's International Scientific Advisory Committee was incredibly productive. In this role he oversaw the establishment and growth of the Human Variome Project Consortium to include over 700 individual members, twelve HVP Country Nodes and 33 gene/disease specific databases. David was also particularly instrumental in starting discussions around establishing an HVP Country Node in the United States.

David will be sorely missed by every member of the Human Variome Project Consortium. His energy and enthusiasm for the Project, and for the field of medical genetics, was evident to all who were lucky enough to meet him. At our meetings, he was always a leading voice in every discussion. He will be missed, and our upcoming 4th biennial meeting in Paris in just a few short weeks, will not be the same without him.

Our thoughts are with David's family at this time.