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The Human Variome Project is an international consortium of scientists, doctors, informaticists and diagnostic laboratory specialists working towards the complete capture and sharing of information on all genetic variation effecting human disease. The ultimate goal is to see the systematic collection and sharing of genetic variant information integrated into routine clinical practice across the globe. The Human Variome Project was initiated at a World Health Organisation sponsored meeting in Melbourne, Australia in 2006 and believes that the free and open sharing of information on genetic variation and its consequences among scientists and within society allows treatments to be delivered more effectively to patients and new treatments and cures to be developed.

Why do we need the Human Variome Project?

Changes in our genes, both small and large, are a fact of life. They drive evolution, constantly introducing phenotypic variability into the population, ensuring that we, as a species, can adapt to changing environments. However, this same process can also cause disease and illness; from the diseases of childhood: cystic fibrosis, muscular dystrophy, Tay-Sachs disease, to name a few, through to the far more common diseases that occur later in life: cancer, diabetes mellitus, Alzheimer’s disease and hypertension.
The statistics are overwhelming: 60% of all humans will be affected by a mutation in their lifetime1; 71% of admissions to a major US paediatric hospital have an underlying genetic basis2; 50% at the Royal Children’s’ Hospital in Melbourne. This, together with the fact that the incidence of diagnosis of genetic disorders at birth is 1% per annum, is clear evidence that genetic disease is a major health problem.

In the past decade, we have seen some wonderful advancements in the biological sciences that have had a direct impact upon our ability to diagnose and care for sick people. Ten years ago, the human genome was sequenced by the thousands of contributors to the Human Genome Project at a cost of US$3 billion: today, a single individual can sequence a full genome in two weeks for a few thousand dollars. Spurred by technological advancements such as this, the pace of new medical research findings is alarmingly fast. But our ability to capture, understand and share the vast amount of information that is being generated on a daily basis is not keeping up. And when it comes to information—such as what mutations cause what diseases— that directly affects the well-being of real people, then our inability to keep up becomes disastrously evident.

The benefits

If researchers, clinicians, genetic counsellors, and affected families were given fast, reliable access to accurate, up-to-date and complete information on all mutations, it will:

  • enable doctors to rapidly diagnose and inform patients with rare diseases;
  • allow new diagnostics;
  • assist researchers to develop new treatments; and
  • assist in uncovering the causes of common diseases, such as breast cancer and asthma.

How it will be achieved

The ultimate goal of the Human Variome Project is to provide a means of automatically sharing high quality data on every instance of genetic variation. To achieve this, the Human Variome Project is facilitating two avenues of collection, both of which are being piloted successfully by critical field studies.

Gene/Disease-Specific Databases

Some 1800 gene/disease-specific databases currently exist on the internet, gathering variation data on specific genes and diseases from the published literature, direct submission by research scientists, and numerous other sources. These databases provide a critical function of digital data curation, ensuring that the data they provide is of a consistently high quality. The Human Variome Project recognises the importance of these databases, but is also aware that they cover a limited region of the genome. The Human Variome Project is working to improve these existing databases, and also encourage the creation of new ones to eventually cover all 20,000 human genes.

HVP Country Nodes

HVP Country Nodes are genetic data repositories that are built, funded and managed by the countries they service. They collect variation data directly from diagnostic laboratories by interfacing with existing laboratory information systems and securely store this information in a central location accessible to the diagnostic and healthcare professionals of the country hosting each node. The nodes serve three functions: first and foremost, they allow data to be shared amongst the diagnostic labs and clinics in any one country to support genetic testing services for patients; secondly, data from the Nodes can also be shared with gene/disease-specific databases and central variation depositories (e.g. NCBI’s dbGaP) in a manner that complies with that country’s existing privacy legislation. Finally, these repositories allow the genetic burden of disease in individual countries to be quantified, which in turn can be used to better target healthcare planning and policy development.


The bringing together of gene variant data together with its phenotypic information is essential for proper genetic healthcare delivery, particularly as we move into the era of personalised medicine. Now that the Human Genome Project has been completed, the collection of information on all genetic variants affecting human health is essential. These data are an invaluable resource for researchers and a diagnostic must for clinicians and patients across the world.

[1] Baird, P., Anderson, T., Newcombe, H., and Lowry, R. (1988). Genetic disorders in children and young adults: a population study. American Journal of Human Genetics, 42(5):677––693. See also

[2] McCandless, S. E., Brunger, J. W., and Cassidy, S. B. (2004). The burden of genetic disease on inpatient care in a children’s hospital. American Journal of Human Genetics, 74(1):121–7.


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Guest Saturday, 11 July 2020