Skip to main content

The Republic of Korea became the Human Variome Project's 17th HVP Country Node on the 7th of August. The HVP Korean Node will be a joint undertaking of the Genetic Society of Korea and the Genome Research Foundation.

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.”

...

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.

Posted by on in Venezuela

The Human Variome Project is pleased to announce that Venezuela has joined the international Project as an HVP Country Node. The HVP Venezuelan Node is a combined initiative of the Venezuelan Genetics Society and several academic and research institutions actively involved in the field of human and medical genetics.

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.

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.

Posted by on in News

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.

...

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?

...

Posted by on in United Kingdom

Just in time for HVP4 and the 2nd meeting of the International Confederation of Countries Advisory Council, the United Kingdom has officially joined the Human Variome Project as an HVP Country Node. This brings the total number of HVP Country Nodes active so far to 15.

Posted by on in USA

The Human Variome Project Consortium today welcomed the United States of America as the 14th HVP Country Node.

"This is fantastic news," said Professor Richard Cotton, the Project's Scientific Director, "Not only for the Human Variome Project, but also for patients in the United States."

The Human Variome Project is extremely pleased to announce that the Czech Republic has officially signed up to the Human Variome Project Consortium as an HVP Country Node. The Czech Republic joins twelve other countries who have established or are in the process of establishing national genetic variation repositories and that have undertaken to share their data with the international community. We are looking forward to working closely with our Czech colleagues.

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.

Posted by on in News

On February 29th, the entire Human Variome Project Consortium is commemorating Rare Disease Day—an international grassroots advocacy day to raise recognition of rare diseases as a global health challenge. We invite everyone around the world, to join with us and other groups within their own country in recognising both the challenge of rare diseases and the good work being done by millions of researchers, healthcare professionals, patients and their families and carers around the world.

Posted by on in Press Releases

Media Release
For Immediate Release

Beijing, 13 December — The Human Variome Project Beijing Meeting wrapped up yesterday after five days of high level talks between members of the Human Variome Project Consortium and the Human Variome Project Chinese Node. The meeting focussed on encouraging new international collaborations that will enable the world’s genomic knowledge to be shared in a bid to improve global health. A particular focus of the meeting was how low- and middle-income countries can be supported.

The meeting also saw the official opening of the Human Variome Project Chinese Node, a multi-million dollar initiative of the Chinese Government to dramatically improve the country’s capacity in medical genetics, genetic diagnostics and genetic counselling. The Human Variome Project Chinese Node has also committed to undertaking 25% of the total effort required to complete the Human Variome Project, a figure in line with their contribution to the world’s population.

At the close of the meeting the Human Variome Project Consortium released a joint statement with the Human Variome Project Chinese Node, reaffirming their commitment to the free and open sharing of genetic disease in a manner that protects the privacy and dignity of patients and their families. The Human Variome Project next meets at UNESCO headquarters in Paris in June, at their fourth biennial meeting.

ENDS

...

Posted by on in News

The Human Variome Project Beijing Meeting wrapped up yesterday after five days of high level talks between members of the Human Variome Project Consortium and the Human Variome Project Chinese Node.

The international Human Variome Project Consortium and the Human Variome Project Chinese Node

Recognising that our genes are fundamental to human life and diversity and are a common thread that binds all peoples and cultures,

Emphasising that the free and open sharing of information on genetic variations and their effects will improve human health by enabling faster, cheaper and more accurate diagnosis, therapy and treatment,

Recalling that Article 1 of the UNESCO Universal Declaration on the Human Genome and Human Rights states, “The human genome underlies the fundamental unity of all members of the human family, as well as the recognition of their inherent dignity and diversity,”

Noting that the mantra of the Human Variome Project is sharing data · reducing disease, and

...

The Human Variome Project Beijing Meeting was officially opened this morning at a ceremony involving many local dignitaries including former Ministers of Health and Science.

Posted by on in News

The Chairman, Mr David Abraham, and the Scientific Director, Professor Richard Cotton are delighted to announce that Human Variome Project International Limited has been admitted into operational relations with UNESCO (United Nations Educational, Scientific and Cultural Organisation).

The Human Variome Project is pleased to announce that Belgium and Egypt have joined with the Human Variome Project to create HVP Country Nodes.

Media Relase
For Immediate Release

Washington, 2 November — The Human Variome Project today announced that it had exceeded some very important milestones set out in its Project Roadmap 2010-2012 by officially partnering with consortiums to coordinate the collection of genetic data from four countries: China, Kuwait, Malaysia and Australia. “We are very happy to have formed these valuable partnerships so quickly after the release of our Project Roadmap,” said Professor Richard Cotton, the Project’s Scientific Director and a Professorial Fellow of the University of Melbourne, Australia.

“The consortiums from these four countries have initiated what we are calling HVP Country Nodes: secure repositories of all the genetic variants being discovered in the diagnostic laboratories of individual countries,” said Cotton.

HVP Country Nodes will not only be valuable sources of information to inform better diagnostic decisions and healthcare planning within the countries possessing nodes, but will also share portions of their datasets with international gene and disease specific databases.

“This is exactly the kind of work the Human Variome Project was conceived to support,” said Cotton, “The free and open sharing of genetic data across national and cultural boundaries. However, we still need to be sensitive to the different legal and ethical landscapes that are out there. That’s what makes the concept of HVP Country Nodes so powerful: each country gets to control how their data is collected and how it is shared.”

...

Posted by on in HVP Country Nodes

The Human Variome Project today announced that it had exceeded some very important milestones set out in its Project Roadmap 2010-2012 by officially partnering with consortiums to coordinate the collection of genetic data from four countries: China, Kuwait, Malaysia and Australia.