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Media Release
For Immediate Release

Kuala Lumpur, 17 March 2015—Patients with one of a number of devastating genetic blood disorders, such as thalassemia and sickle cell anaemia, will benefit significantly in the coming years from a new international project announced today at the annual Human Genome Organisation meeting in Kuala Lumpur. The Global Globin 2020 Challenge (GG2020), an initiative of the Human Variome Project—an international scientific NGO working with UNESCO and WHO to build medical genetics and genomics capacity, particularly in low- and middle-income countries—will apply recent developments in human genomics involving the systematic collection and sharing of genetic variation data to fighting these blood disorders, referred to technically as haemolytic anaemias.

In particular, the Challenge will build an evidence base for the better management of delivery of local treatment, care and eventually cure for these diseases by ensuring that there is sufficient local capacity to deliver services. It is believed that the Challenge will put in place the skills and expertise in genomic medicine needed to effectively tackle other health issues in these countries as well.
The Challenge is being led by two leading geneticists, Professor Zilfalil bin Alwi from Malaysia and Professor Raj Ramesar from South Africa. Both are members of the Human Variome Project Board and can see the benefits this project will bring to their patients and others in South East Asia, Africa and the rest of the world.

Human Variome Project International (HVPI) Chairman, Chris Arnold, who chaired the HUGO session introducing the project, thanked the GG2020 challenge co–chairs and fellow HVPI directors, Professor Zilfalil Bin Alwi, from Universitie Sains Malaysia and Professor Raj Ramesar from the University of Cape Town South Africa for their leadership and willingness to coordinate this major global initiative. Mr Arnold stated “The haemolytic anaemias collectively, are cause for significant morbidity and mortality, especially in parts of the world where health systems are often less well developed. Children are often most severely affected. Despite much being known for a long time about the genetics and biology of the haemolytic anaemias and this knowledge being used successfully in some countries to systematically reduce burden of disease, low- and middle-income countries have remained practically untouched by this knowledge and innovations.”

In launching the Challenge, Professor bin Alwi said, “The Malaysian Node of Human Variome Project is honoured to be given the privilege to co-chair this Global Globin Initiative. Hemoglobinopathy, in particular Thalassaemia, is a common disease in Malaysia where about 5% of the population are carriers of the disease".

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Formalising our Relationship with the World Health Organisation

One of the most common questions that we get asked when we introduce the Human Variome Project to new people is, "What's your relationship with the World Health Organisation?" It's an easy question to answer, as the Project and WHO have been working together since the beginning. WHO sponsored and attended the very first meeting of the Project, and over the years we've worked with them on a number of initiatives, including the Grand Challenges in Genomics for Public Health in Developing Countries. But, while fruitful, our relationship has always been an informal one. Until now.

Earlier this month, Human Variome Project International Ltd (the legal structure that represents our Consortium members) signed a formal Memorandum of Understanding with WHO that sets out the formal relationship between WHO and the Human Variome Project. In essence, the agreement sets out how the two will work together to assist WHO in achieving its goal of providing leadership in global health matters that relate to human genomics, with a particular emphasis on service delivery and safety in low- and middle-income countries.

This marks a new initiative for WHO. While it has always had a small program on genetics and health, focusing mainly on genetic diseases for some time, this new program marks a change in focus to the broader issue of human genomics and public health. The public health implications of advances in human genetics and genomics are of increasing importance to all professionals working in the field.

Our agreement with WHO is a significant complement to our existing status as an NGO with operational status with UNESCO as it links the Project and our Consortium members to the world of international health. WHO is responsible for the key issues affecting health including shaping international health research agenda, setting norms and standards for health matters and assessing health trends. The Human Variome Project's key contribution to these efforts will be to give a voice to the various health professionals working in human genetics and genomics, particularly those in low- and middle-income countries where opportunities to shape policy are sometimes weak.

The key mechanism for this will be the HVP Country Nodes and the International Confederation of Countries Advisory Council. The Project has 22 formally constituted Country Nodes together with another six countries that are in the process of seeking membership. These are found in all regions of the world. The interest in HVP Country Nodes is growing fast as researchers, clinicians and health bureaucrats increasingly realise the importance of national bodies to oversee the transparent and open sharing of variant data and information between countries.

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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
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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.

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.

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.

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.”

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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.

Posted by on in Brief Updates

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.

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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Posted by on in Brief Updates

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.

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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 Brief Updates

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.