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Riding a Wave to a World Record (or two!)

Catching a wave is one thing, but imagine riding a single wave for over 17 kilometres. This is exactly what a team of Australian surfers have done, all in the name of a very important cause. James Cotton, Roger Gamble and Zig Van Sluys set out upon the Kampar River in Indonesia's Riau Province where the 'bono' tidal wave carried them to a world record for the longest wave surfed as a team - with a total of 37 kilometres tallied between the three. James Cotton, son of the late Dick Cotton - Human Variome Project founder, clocked up an incredible 17.2 km stretch, setting the individual world record of the longest wave surfed. The wave - which at certain points can reach to 3 meters high - must be seen to be believed, so we've included some photos to help paint the picture!

In addition to this remarkable effort, the three set themselves the ambitious task of raising $50,000 for the Human Variome Project, a cause close to their hearts, to help ensure that all information on genetic variation and its effect on human health can be collected, curated, interpreted and shared freely and openly. With the latest count at over $47,600 it is clear that nothing stands in the way of these determined individuals. The International Coordinating Office sends our heartiest congratulations and deepest thanks to the Team at World Record Surfing for a Cause - James, Roger and Zig - as well as all the sponsors, donators and supporters for their contribution to raising awareness and funds for the Human Variome Project.

Posted by on in Uncategorized
Get in Line at the DNA Bank

In the same year that Vernon Ingram first showed us that changes to a single amino acid in a protein can cause disease or disorder in humans, Johan den Dunnen was born. Growing up in a time when scientific advances in the realm of human genetics were on rapid fire (do the names Meselson, StahlLejeune, Guthrie and Nirenberg ring a bell?), he was inspired to study biology. Johan went on to complete his PhD in the Netherlands examining the evolution of eye-lens crystallin genes, before his research took him toward the area of genetic disease - specifically Duchenne muscular dystrophy.

As well as being an academic (currently a Professor of Medical Genome Technology at Leiden University Medical Centre), Johan, is part of another group within the community. The group boasts members such as Ozzy Osbourne, Elvis Presley, Larry King, and Glenn Close.

What they have in common (unfortunately we're not announcing a supergroup to rival the Traveling Wilburys) is that they have all had their genome sequenced.

Since the completion of the Human Genome Project in 2003, a developing commercial market has allowed an increasing number of individuals to have their genome sequenced. While for James Watson - joint discoverer of DNA - it came at a cost of around $1 million dollars, but by the time Steve Jobs sought information about his own genome to aid his cancer treatment, the cost had fallen to around $100,000.

Today genetics is not just for the wealthy. Today individuals can have access to their own genomic blueprint for around $1,000 USD.

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When the "Publish or Perish" model does more harm than good

If you're an academic or on your way down a related path, the term "publish or perish" needs no further explanation. For those outside the circle, the pressure to generate multiple high quality research publications in rapid succession may not seem unusual. How else will the worldwide science community know what you are working on? What other channels exist to share interesting pieces of data or breakthrough results?

The flip side of the argument often points out that focussing on publication quantity has detrimental effects on publication quality. This side of the argument is fuelled by reports highlighting careless mistakes in scientific literature, low reproducibility rates in repeat experiments and extreme cases of academic misconduct and the falsification of results. While all of this sounds like a horror story for scientists to deal with, what are the real implications of these errors outside of the lab? A recently published article in the Atlantic outlined one such example in a disconcerting scenario encountered by Heidi Rehm.

In addition to her role on the International Scientific Advisory Committee for the Human Variome Project, Heidi Rehm is also the Chief Laboratory Director at Partners' Laboratory for Molecular Medicine and Associate Professor of Pathology at Brigham & Women's Hospital and Harvard Medical School. Rehm's position sees her routinely provide reports on patient samples sent to Partners Laboratory from healthcare professionals around the country.

The particular situation described by Heidi Rehm pertains to a foetal blood test which returned a result indicating a variant in PTPN11, a gene which can signify an increased risk of Noonan syndrome. Using the tools at her disposal, Heidi Rehm scoured the scientific literature, finding a paper which classified the specific variant as pathogenic and indeed likely to cause Noonan syndrome. Naturally, the report she returned detailed this finding.

Since the particular sample in question crossed Heidi Rehm's path, further research by a separate group uncovered a high prevalence of the PTPN11 variant among particular ethnic groups who show no sign of the genetic disease, resoundingly disproving the earlier classification of the variant as pathogenic. The original paper that Rehm referenced was wrong.

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A Recap of the Open Knowledge Human Genomics Meetup

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!

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Sir John Burn, Alison and when to order a genetic test.

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 .

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Statement from the Human Variome Project International Scientific Advisory Committee on the International Consortium of Human Phenotype Terminologies

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 Human Variome Project is pleased to announce the newest appointed members of the International Scientific Advisory Committee, Jordan Lerner-Ellis and Juergen Reichardt.

Jordan Lerner-Ellis is currently Head of Advanced Molecular Diagnostics at Toronto’s Mount Sinai Hospital. He holds the position of Assistant Professor in the University of Toronto’s Department of Laboratory Medicine and Pathobiology and is an Associate at the Ontario Institute for Cancer Research.

Juergen Reichardt is currently the Head of School, Pharmacy and Molecular Sciences at James Cook University. Furthermore, he serves as the Associate Dean Research in the Faculty of Medicine, Health and Molecular Sciences at James Cook University.

We are thrilled to welcome our new additions to the team and look forward to the advances that will stem from their contribution.

Grey genomics w/ VCGS Senior Scientist Belinda Chong

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.

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Birds, buckets & beaches: An analogy about genomics

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.

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

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.

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The Board of Human Variome Project International Limited is pleased to announce the appointment of two new directors to the Board. We welcome James Angus and Zhonghua Gao to the team.

Zhonghua Gao heads the Beijing China Health Huayang Institute of Gene Technology and is the newly appointed Director of the HVP China Node Working Committee. 

James Angus is a Professor in the Department of Pharmacology and Therapeutics at the University of Melbourne and is the former Dean of the University of Melbourne Faculty of Medicine, Dentistry and Health Sciences.

Both Zhonghua and James bring a depth of experience and new perspectives to the Board. 

We are also pleased to welcome Kathryn North as an adviser to the Board on strategy and activities, and as formal liaison between the Human Variome Project and the Global Alliance for Genomics and Health Steering Committee. Kathryn is currently the Director of the Murdoch Childrens Research Institute in Melbourne, Australia and the David Danks Professor of Child Health Research at the University of Melbourne.

Posted by on in China
欢迎你,中国!

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!

Posted by on in News
Vale, Richard Cotton

It is with profound sadness that I advise that Professor Richard Cotton passed away peacefully in his sleep on Sunday morning.

We here at the International Coordinating Office, as I'm sure are you, are deeply saddened and shocked by this tragic news.

Dick provided us with leadership that inspired us all to embrace his global vision. He leaves behind a truly remarkable legacy. His vision in the field of the collection and sharing of human genetic variants is legendary. He was one of the first to realize that DNA sequencing would change the world and that genetic diagnostics would be based on sharing information on genes, variants and phenotypes. Without sharing this data, diagnosis would not be possible and optimal care to the patients and their family's non-existent.

He spent the last 30 years of his life persuading people to share his vision and what they know about genes, variants and phenotypes. He started the journal Human Mutation, initiated the alternating bi-annual International Mutation Detection Workshops and HUGO Mutation Detection Courses, the HUGO Mutation Database initiative, stood at the basis of the HGVS recommendations to describe DNA variants and organizations like the Human Genome Variation Society (HGVS) and since 2006, the Human Variome Project (HVP). Irrespective of whether all these efforts were as successful as he might have wished, Dick Cotton was the enthusiastic driver that mobilized many volunteers, to spread the word, do some work and make a difference.

From the start he realized the importance of developing a common, world-wide accepted language to describe DNA variants. He gave a kick-start to suggested standards like this by offering the option to publish them in the journal Human Mutation. When standards matured he dared to take the risk by demanding their use before accepting papers for publication in Human Mutation.

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This article originally appeared in Science & Diplomacy on 19 March, 2015. It is republished here with permission.

One way to address the global challenges of public health in developing countries is through international collaboration to share data. It’s important to do this not just for humanitarian reasons but because open information is at the heart of scientific progress. One field in which this is particularly evident is genomic research, which has made revolutionary progress in recent years. Since the first genetic variation causing inherited disease (sickle-cell anemia) was defined at the protein level sixty years ago,1 it has become possible to locate, isolate, sequence, and clone individual genes. Indeed, there has been an explosion in research to discover the function of each of the twenty thousand or so human genes.

Once the Human Genome Project—the international effort to map the genes present in the human genome—was completed, a new global project was launched in 2006 to share information about genetic variation in clinical practice. The Human Variome Project (HVP) acts as an umbrella organization, actively engaging with partners and stakeholders in each country to ensure that genetic variation information, generated during routine diagnostic and predictive testing, is collected and shared. The HVP is also instrumental in establishing and maintaining the standards, systems, and infrastructure that will embed the sharing of this knowledge in routine clinical practice.2

The United Nations Educational, Scientific and Cultural Organization (UNESCO) serves as an important channel for the involvement of developing countries in the HVP, as it did during the Human Genome Project. One of the main goals of UNESCO is the development of international science that meets social needs in health, food, education, and other standards of living.

This goal has become increasingly relevant in the Post-2015 Development Agenda,3 which aims to address these global challenges, including the burden of diseases on the performance and growth of many nations, particularly in developing countries where issues of public health are of major concern.4 Formed at the end of World War II, UNESCO was one of numerous initiatives for international scientific cooperation undertaken by the nascent United Nations. These scientific cooperation initiatives were seen as diplomatic opportunities to promote collaborations among nations in hopes of fostering peace and development. The same sentiment is true today with the HVP, one of the latest efforts by UNESCO to promote collaboration.

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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
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.

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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