- World Health Organisation
- Global Alliance for Genomics and Health (GA4GH)
- Human Genome Organisation
- Human Genome Variation Society
- International Federation of Human Genetics Societies
- IUPAC Properties & Units in Clinical Molecular Biology and Genetics
- Royal College of Pathologists of Australasia (RCPA) - Development of Standards for DNA Sequence Variation Databases Project
World Health Organisation
WHO is the directing and coordinating authority on international health work, and responsible for providing leadership on global health matters, shaping the health research agenda, setting norms and standards, articulating evidence-based policy options, providing technical support to countries and monitoring and assessing health trends. Unfortunately, the World Health Organisation has historically not maintained an active focus on genetics, genomics and global health.
Since its inception in 2006, the Human Variome Project has been working with WHO to raise the profile of genetics and genomics within national health ministries. The WHO was a co-sponsor of the inaugural meeting of the Human Variome Project in 2006. In 2011, members of the Human Variome Project International Coordinating Office staff were asked by WHO to assist in the undertaking of the WHO Grand Challenges in Genomics and Public Health Project and served on the Executive Committee. This relationship led to a joint research project between Human Variome Project International Limited, the PHG Foundation and WHO to map global activity in genetics, genomics and global health in 2012.
WHO is now seeking to become more involved in the area of genomics in global health and has established a programme to re-stimulate genomics in global health inside and outside of WHO.
WHO and HVPI have agreed on the language of a Memorandum of Understanding that sets out a programme of collaborative activities and projects that will set the global direction of genomics in global health. This work will involve facilitating discussion among the international medical genetics and genomics community and coordinating international consultations on genetics and genomics integration into health systems, with the overarching aim of improving the provision of genetics and genomics health service deliver, particularly in low-resource setting and low- and middle-income countries. We expect this MOU to be executed in the coming weeks.
The main objective of the United Nations Educational, Scientific and Cultural Organisation (UNESCO) is to contribute to peace and security in the world by promoting collaboration among nations through education, science, culture and communication and information. Established in 1945, UNESCO is the sole agency in the UN System having a unique mandate for the sciences, the “S” in UNESCO. The Organization acts as an advocate for science, as a platform for sharing ideas and standard setting, and promotes dialogue between scientists and policy makers.
It empowers and catalyses innovative initiatives in the field of international cooperation in science, in particular through networks and capacity building activities.
HVPI is an NGO official partner of UNESCO, maintaining a close working relationship with the Natural Sciences Sector of the International Basic Sciences Programme. HVPI is the only Australian-based scientific NGO with this status. HVPI and UNESCO work together on activities in the life sciences that focus on human capacity building to promote international scientific cooperation and to bridge the scientific and technological differences existing between developed and developing countries. The major aim is the development of endogenous national and regional research capacities in the biological sciences and biotechnology in keeping with rapid scientific advances.
HVPI also works closely with the UNESCO Bioethics Programme. Both the wider Human Variome Project and UNESCO recognise that progress in genetics and genomics is giving people new power to improve health. Concerns about the social, cultural, legal and ethical implications of such progress have led to one of the most significant debates of the past century. Bioethics addresses and encompasses these concerns.
Global Alliance for Genomics and Health (GA4GH)
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.
Human Genome Organisation
Human Genome Organisation (HUGO) is the 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. From a 42 scientists of 17 countries membership association, HUGO has increased its membership base to over 1,800 members, both established and aspiring of 87 countries after two decades. HUGO has, over the years, played an essential role behind the scenes of the human genome project. With its mission to promote international collaborative effort to study the human genome and the myriad issues raised by knowledge of the genome, HUGO has had noteworthy successes in some of the less glamorous, but nonetheless vital, aspects of the human genome project.
As a truly international organisation, HUGO is entering its 25th year of its history by making an inflection in its direction – seeking the biological meaning of its information content. 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. The most notable of these is the joint HGVS/HVP/HUGO Sequence Variant Description Committee. The three organsiations have formed a collaborative group to update and mainain the internationally accepted Sequence Variant Nomenclature (the HGVS Nomenclature).
Human Genome Variation Society
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, finacnes, 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.
International Federation of Human Genetics Societies
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.
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.
A number of grand challenges are being addressed through collaborative actions to reach these2020 goals such as:
- establishing and providing access to harmonized data and samples,
- performing the molecular and clinical characterization of rare diseases,
- boosting translational, preclinical and clinical research,
- and streamlining ethical and regulatory procedures.
IUPAC Properties & Units in Clinical Molecular Biology and Genetics
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.
Royal College of Pathologists of Australasia (RCPA) - Development of Standards for DNA Sequence Variation Databases Project
A national project for the development of standards for DNA sequence variation databases was initiated by the RCPA in September 2013 in collaboration with the Human Genetics Society of Australasia (HGSA), and The Human Variome Project (HVP). The project is being funded through the Department of Health’s Quality Use of Pathology Program.
With the growing integration of emerging genetic technologies into diagnostic molecular genetic laboratories, there is a rapidly increasing volume of genetic tests, with increasing complexity becoming available as feasible investigative options for clinicians. These tests are producing an increasing quantity of genetic data requiring analysis and interpretation, which forms a substantial proportion of the workload associated with the test.
Historically, there has been the development of online mutation databases that are disease specific or locus specific (Locus Specific Databases – LSDB), often by research groups focused on the specific area. The existing databases are often inconsistent with variable quality due to variant call errors, and or inaccurate data submission. The quality of the interpretative aspects is often found wanting, with the pathogenicity of variants often incorrectly assigned. While the databases in existence have proved to be valuable research tools, there is a significant lack of appropriate databases that meet the robustness, reproducibility and stringent accuracy demanded of the clinical diagnostic environment. In addition to this, accessibility and sharing of the submitted data remains variable across databases. More widespread sharing of variants and associated phenotypes in a secure environment to protect the privacy of individual’s data, will allow the value of cumulative variant/phenotype information to be realised; accelerating the delivery of accurate, actionable, and timely clinical reports.
While there are several initiatives across the globe dedicated to the development and management of DNA data repositories, all are in early stages of evolution. There are currently no standards or an equivalent mechanism to accredit DNA sequence variation databases to ensure the accuracy and quality of data in any central repository meets the needs of the clinical diagnostics environment. Thus, the RCPA aims to develop standards in alignment with global initiatives that are workable standards in the rapidly changing genomics testing environment.