https://www.hugo-international.org/

The Human Genome Organisation (HUGO) is an international organisation of scientists involved in human genetics. HUGO was conceived in 1988, at the first meeting on genome mapping and sequencing at Cold Spring Harbor. Starting from a group of 42 scientists across 17 countries, HUGO now has over 1,800 members from 87 countries. HUGO has, over the years, played an essential role behind the scenes of the human genome project. With its mission to promote international collaborative efforts to study the human genome and tackle the myriad of issues raised by knowledge of the genome, HUGO has had noteworthy successes in many vital aspects of the human genome project.

As a truly international organisation, HUGO is entering its 30th year of its history by making an inflection in its direction – seeking the biological meaning of the content of the genome. To this end, HUGO is focusing on the medical implications of genomic knowledge. Moving forward, HUGO is also working to enhance the genomic capabilities in the emerging countries of the world. The excitement and interest in genomic sciences in Asia, Middle East, South America and Africa are palpable and the hope is that these technologies will help in national development and health.

The Human Variome Project works closely with HUGO on a number of projects and initiatives, including joint annual meetings. The most notable of these projects is the joint HGVS/HVP/HUGO Sequence Variant Description Committee. The three organsiations have formed a collaborative group (Sequence Variant Nomenclature Working Group (SVD-WG)) to update and maintain the internationally accepted HGVS sequence variant nomenclature. HUGO holds a position in the Sequence Variant Nomenclature Working Group (SVD-WG)

https://www.genomicsandhealth.org/

The GA4GH is a non-incorporated international organisation that was founded in January 2013 by a group of fifty people, mostly from the United States and the United Kingdom. As a result of this meeting, they produced a white paper and began recruiting additional institutional members to the organisation through the exchange of non-binding letters of intent.

The GA4GH is approaching the issue of genomic data sharing from a scientific, rather than clinical, perspective. The main players, at least in the beginning of the organisation, have been heavily involved in a number of projects (SNP Consortium, HapMap, 1000 Genomes) that have all tried to understand variation in the human genome at population scale for use as a platform for research into the causes of human disease, primarily complex human disease. Their approach is that of seeing human genomic variation as a “big data” challenge: that assembling a vast collection of human genomes with accompanying phenotypic/clinical data will allow insights into the causes of human disease to be uncovered via algorithmic querying.

As such, their approach is to focus on developing technical standards, application programming interfaces (APIs), and accompanying infrastructure to allow research institutions to easily share and interrogate datasets. Recognising that there are regulatory and ethical implications to this type of work, they have established a specific working group to focus on this area.

The Human Variome Project and the GA4GH have a similar vision with complementary philosophies and approaches. Where the GA4GH is approaching the issue of genomic knowledge sharing from a research perspective, the Human Variome Project is approaching it from a primarily clinical perspective. We are working to integrate knowledge sharing into routine clinical practice, so that insights into health and disease uncovered during genetic and genomic testing and clinical care can be freely and openly shared.

These are parallel and complimentary approaches to address the same issue. Both the Human Variome Project and the GA4GH recognise this. Both organisations recognise that they are approaching the issue from different perspectives and that these differing perspectives are valuable to both organisations.

The Human Variome Project works with individual countries to build genetics and genomics capacity within their national health systems, specifically around knowledge sharing in a responsible manner. We also work with international expert groups to develop knowledge sharing resources and formal variant interpretation processes for specific genes and diseases.

We are a truly international organisation with over 1,100 individual members from 81 countries in every region of the world. We work closely with UNESCO to bring the issue of genomic knowledge sharing to the attention of national governments, and are establishing a joint work programme with WHO on genetics, genomics and public health. The GA4GH recognises that the Human Variome Project brings a highly valued clinical genetics contribution to the table.

https://www.hgvs.org/

The HGVS was formed in 2000 from the HUGO Mutation Database Initiative (HUGO-MDI). The HUGO-MDI was the first group formed in 1994 to work on the issues that were looming regarding the collection and curation of genetic data.

The Human Variome Project maintains a close working relationship with the HGVS and the International Coordinating Office continues to administer HGVS activities, finances, administration and organises its meetings. Most of the members of the HGVS have strong ties to the Human Variome Project and are involved in both organisations. The President of HGVS holds an ex-officio position on the Human Variome Project International Scientific Advisory Committee. HGVS also holds a position in the Sequence Variant Nomenclature Working Group (SVD-WG).

https://www.ifhgs.org/

The International Federation of Human Genetics Societies was founded in 1996 to provide a transparent structure to facilitate communication throughout the international community of human geneticists. The Federation, still in its infancy, serves its constituent members, human genetics societies around the world, by providing a platform to share information about research, education and clinical services in an interactive way.

The Human Variome Project is an associate member of the International Federation of Human Genetics and works closely with its member societies to develop HVP Country Nodes and to build national capacity in medical genetics and genomics.

https://www.irdirc.org/

The International Rare Diseases Research Consortium (IRDiRC) teams up researchers and organizations investing in rare diseases research in order to achieve two main objectives by the year 2020, namely to deliver 200 new therapies for rare diseases and means to diagnose most rare diseases.

https://www.humanvariomeproject.org/solutions/recommended-systems.html

The field of medical molecular biology relies on the ability to store and communicate clinical laboratory data with precise and with internationally accepted semantics. The latest existing document that serves this field is the 2004 IUP AC Technical Report based on collaborative work by the IFCC and IUP AC. In recent years there bas been rapid development in the field of medical molecular biology with the result that properties regularly measured today are not covered by the 2004 Report. The aim of this project is, again in collaboration with IFCC, to expand the framework of semantic properties to ensure clear, harmonized definitions of these properties. The IUPAC project Properties and units in clinical molecular biology and genetics will deliver:

• Models for definitions of types of laboratory examination results in the field of molecular biology, using NPU syntax and semantics.
• A useable set of NPU definitions for identifying results
• A Technical Report to be published simultaneously in the journals Pure and Applied Chemistry (PAC) and Clinical Chemistry and Laboratory Medicine (CCLM), describing the models and (examples of) the set of definitions.