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Last week The Human Variome Project and the Open Knowledge Foundation, hosted a meetup at ThoughtWorks on Collins St in Melbourne. Professor Dr. Johan den Dunnen shook things up with his idea for a ‘DNA-bank’ - a place where account holders have full discretion over access to their genetic sequence for research or medical purposes.

Johan made an unfamiliar topic easily relatable with his presentation featuring both comedic and personal details – we even got to see Johan’s own genome! Visualised into a starfield type array of variants, each with different colours like Christmas baubles. Red signalled a variant that caused a protein to stop working – Johan had a few reds – which made us all think we have reds too, but few of us would know if we did – as at this stage, knowing your own genome is limited to only a few social circles like medical genomicists, early adopters in the direct-to-consumer market and the few people who’ve had genetic tests through primary healthcare.

There’s another joint meetup coming up on at 6pm on March 9th at ThoughtWorks featuring Professor Ingrid Winship. We are really lucky to have Professor Winship speaking – as the Chair of Adult Clinical Genetics at the University of Melbourne and the Executive Director of Research for Melbourne Health (among other important positions), Professor Winship is a very knowledgeable (and busy!) leader in Australia’s healthcare scene.

Visit http://www.meetup.com/Open-Knowledge-Melbourne/events/228798812/ for more information and to register for the free event.

Hope to see you there!

Recently I watched Sir John Burn’s interview with Alison – a very polite and lovely science teacher from the UK who unfortunately passed away one year after the interview was recorded.

From the interview, I learnt that Alison had been aware ever since she was a child that several women in her family had died in their thirties or forties from cancer.

Sadly, the medical profession (at the time) considered these cancers to be caused by environmental factors, not an underlying genetic cause.

So when Alison herself fell seriously ill and sought treatment, she asked for genetic tests, but was told that her recollections of cancer in her family were irrelevant to her condition and amounted to hearsay.

After Alison’s death, Sir John Burn wrote an editorial urging the medical community to reconsider at what point in diagnosis genetic tests should be ordered for patients. I wonder what impact Sir John Burn’s cautionary tale of Alison’s diagnosis and treatment has had, and reading through it recently, I’m reminded of the Australian Government’s announcements to reduce funding for pathology and other diagnostic services in 2016 .

The Committee congratulates the representatives of the nine phenotype terminologies represented on the International Consortium of Human Phenotype Terminologies (ICHPT; http://www.irdirc.org/ichpt/) on the recent release of a core set of 2,086 terms that represent the major phenotypic abnormalities encountered in persons with rare diseases.

The Committee notes that the Human Variome Project exists to build capacity in the practice of responsible genomics and focusses on increasing both the quality and quantity of genomic knowledge that is collected, curated, interpreted and shared for clinical practice, and that the use of a common language to unambiguously refer to concepts is vital to this effort. Such common languages are already in place for some aspects of the work relevant to the Human Variome Project—the Committee especially notes the HGVS Nomenclature for the description of sequence variants—and now, with the release of this work by the International Consortium of Human Phenotype Terminologies, the beginnings of a similar language are in place for phenotypic features.

The ICHPT core terms provide both terms and definitions for the most common phenotypic features represented in the ICHPT member terminologies as well as cross references to a number of existing terminologies, including the Human Phenotype Ontology, which has become the de-facto standard for representing human phenotypes. This provides researchers that require resources offered by only one of the terminologies that have agreed on the core set with the ability to use their preferred terminology but still be able to integrate their data at a certain level of granularity by subsuming annotations to the level of the common terms.

The Committee believes that widespread adoption of this set of terms will allow easier exchange and integration of data from specialist and generalist databases, sophisticated search algorithms for biomedical literature, and the comprehensive and accurate documentation of phenotypic abnormalities, especially in hospital information systems. We therefore make the following recommendations:

1. Phenotypic features should be represented in all genetic variation databases using terms from a terminology that has agreed to and defined cross-references to the ICHPT core set of phenotypic feature terms; and
2. Existing phenotype terminologies that have not yet agreed to the ICHPT core set of terms and defined cross-references between their terms and the ICHPT core set should do so at the earliest possible opportunity.

The grassy parkland replete with big hill to roll down offered a nostalgic mirage on my way next door to the Royal Childrens Hospital (RCH) on Flemington Road, Melbourne. Running on fumes, I wandered inside - that colossal, veritable wonderland, where for a moment I was 3 feet tall, trying to see what I'd once have seen stumbling into this spaceship with worried parents on route to the doctors. First, leaves and butterflies floating on wire from lofty ceilings, an oceany aquarium of shiny fish, a rainbow coloured lolly shop and deeper still in this labyrinth of childhood delights, the golden arches reared its head. It all roused good feelings, and despite me momentarily struggling with the idea of fast food in a hospital, I felt for the sick kids wanting a happy meal before visiting meerkats - which I decided to save for my next visit. After a brief bite to eat, coffee and some more caffeine, I went next door to the Murdoch Childrens Research Institute, where Belinda Chong - Senior Scientist - met with me for an interview on the Victorian Clinical Genetics Services (VCGS).

So Belinda, how'd you get into genomics?

I think it was more by accident, I was at the right place at the right time kind of thing... While I was at uni, I had no clue what I wanted to do, but I had a huge range of subjects, I knew I was interested in science: chemistry, biochemistry, I had zoology, I had a whole range of different psychology... But the whole genomics thing didn't happen until I was doing my PhD or even post-doc.

Had any other profession caught your eye?

When I was doing my bachelors, and going into masters, I did think about doing nursing, yeah that's completely different again, looking at patients and patient care, but by the time I'd really thought about it I had already started my masters and was nearly completing it.

Imagine you need to catalogue all the grains of sand on a beach, but to do this you must use special tweezers to pick up each grain, be trained to identify the grain, then place it in the correct grain bucket. Imagine armed with this correctly catalogued beach worth of sand and buckets, you could diagnose genetic diseases and design therapies with an ease unparalleled in today's scientific world. Further imagine that through some fluke of evolution, a highly intelligent species of bird with eyes and beaks suited to picking up and classifying individual grains of sand inhabit the island on which you wish to sort your sand. Now all you have to do is train the birds to pick up the sand and deposit it into the correct bucket according to your bucket classification system – but why would a bird do this? Food. Why would a researcher do this? Publications.

To pull down the analogous curtain, grains are genetic variants, birds are researchers, food is scientific recognition and buckets are genetic databases – but the problem is really a problem. We need to catalogue all the genetic variants in the world because it is this data that will enable us to get a handle on genetic disease – diseases like sickle cell anemia, cystic fibrosis, polycystic kidney disease, Tay-Sachs and many others.

Whilst the birds’ favourite food continues to be publications, publications don’t get the sand sorted into buckets fast enough. There is a faster approach, it just requires a different sort of food: MA or microattribution. Microattribution opens up the discovery of scientific knowledge to the crowd and is part of a much larger effort on behalf of the Human Variome Project to encourage the collection and sharing of genetic data on a global scale. But there are many beaches around the world and connecting this data is a challenge in itself requiring governments, universities, companies, health providers, researchers and citizens to all work together to put forward the data they've collected into a network from which everyone can learn from.

To learn more about the Human Variome Project and its role as a partner NGO of UNESCO, check out this editorial in Nature Genetics.

Image sourced under Creative Commons via Flickr from jdrephotography.

When should families put off genetic testing for their children? Are direct-to-consumer tests safe for children?

Thinking about questions like these?

Read up on what the American Society of Human Genetics (ASHG) and American College of Medical Genetics and Genomics (ACMG) recommend: Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

Image titled "A Climb-on DNA Model" sourced under Creative Commons via Flickr from James Gentry.

The HVP China Node was officially launched on 26 June, 2015, after an agreement was signed with the Beijing China Health Huayang Institute of Gene Technology on the 6th of January this year. China have been involved in a limited capacity with the Project since 2010, but this marks the beginning of what is looking to be a unified Chinese contribution to the Human Variome Project.

The ceremony was held in the China Hall of Science and Technology with more than 150 attendees, including government officers, international guests, experts and professionals in the areas of genetics and genomics in China. Dr Casimiro Vizzini from the International Basic Science Program of the United Nations Scientific, Educational and Cultural Organisation (UNESCO) and Mr Chris Arnold, Chairman of the Human Variome Project International Limited Board, addressed the delegates. The Human Variome Project were further represented by Professor Garry Cutting, HVPI Board member and Co-Chair of the International Scientific Advisory Committee and Professor Peter Taschner, member of the International Scientific Advisory Committee and Chair of the Gene/Disease Specific Database Advisory Council. Representatives from the UNESCO Beijing Office also attended the event. Mr Zhonghua Gao from the Beijing China Health Huayang Institute of Gene Technology was appointed as the Director of the HVP China Node Working Committee.

The HVP China Node Working Committee had held a meeting on the day preceding the launch. Professor Runlin Ma from the Institute of Genetics and Developmental Biology, Chinese Academy of Sciences was elected as Chair of the Expert Committee of HVP China Node Working committee.

加油，中国！

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".

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:

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.

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 5^th 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.”

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.

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.

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.

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.”

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.

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.

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

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.