The Human Variome Project 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.
In doing so, the Human Variome Project takes on four roles:
- establishing and maintaining the standards, systems and infrastructure necessary for the worldwide collection, curation, interpretation and sharing of information across the genome;
- advocating and promoting ethical behaviour in the field of medical genetics and genomics;
- sharing knowledge about our genome and its function in determining health; and
- assisting individuals and nations build their capacity to address the genetic aspects of individual and global health.
Setting Normative Function
Setting normative function refers to the process of developing, communicating and monitoring the implementation and effectiveness of standards for the collection, curation, interpretation and sharing of genetic variation information. Implicit within this activity are initiatives to provide accreditation to data repositories operated by members of the Human Variome Project Consortium based on community developed standards and to articulate and communicate positions on matters of global and public health policy and public interest. The Human Variome Project defines normative function by developing HVP Standards and Guidelines under our Standards Development Process.
HVP Standards and Guidelines unambiguously describe specifications and procedures designed to ensure the reliability, performance and interoperability of systems and processes. An HVP Standard is a system, procedure or technology that the Human Variome Project Consortium has determined should be used by the community. HVP Guidelines are recommendations made by the Human Variome Project Working Groups that offer advice as to what are believed to constitute current "best practices" at a given time and that the Human Variome Project Consortium has determined would be beneficial for the community to adopt.
Normative function is communicated through the Human Variome Project Solution Blueprint, a print and web-based annotated collection of current HVP Standards and Guidelines and relevant Policy Documents.
The Human Variome Project operates in a space that involves the use of information protected by international treaties and legislation overseen by a large number of different national interests. The Human Variome Project must ensure that it and its members are continually improving their ability to deal positively with the full range of ethical, social, legal and cultural issues arising from the practice of medical genetics and genomics, that these issues are integrated into this practice in an appropriate way, and that the Project is seen to be at the forefront of national and international debates of these issues.
Behaving ethically is a necessary part of genomics and medical genetics. All members are confronted with aspects of these issues frequently in their work, whether it is in conducting research, in clinical practice, providing diagnostic and related services or counselling patients and their families. The issues are complex, multi-faceted, and fluid, changing as the field grows.
Being an international organization, the Human Variome Project encompasses the full range of diversity in relation to cultural, gender, ethnicity, disability, and religious differences. This diversity of views and perspectives enriches the debate of issues and can assist in finding better solutions and outcomes in a global world.
Specific legal and policy issues related to intellectual property, regulation, access to services and information, consumer and human rights will arise and need to be addressed in a manner that is proactive and open. There is a need to share good practices and experiences, and to promote transparency both with the Human Variome Project’s network and beyond.
Sharing knowledge is a key priority for the Human Variome Project. The Human Variome Project is committed to the free and open exchange of knowledge that is relevant to the practice of genetic and genomic medicine, within the boundaries of an appropriate ethical framework.
Sharing knowledge amongst members of the Consortium and beyond is critical to the ongoing success of the Human Variome Project. Knowledge can be thought of as comprising three separate categories:
- Technical knowledge This relates to the specific molecular and clinical data that describe genetic variants and their consequences for patients is shared via the Project’s Global Collection Architecture and how this can be efficiently and effectively shared across boundaries
- Collaborative Expertise – how technical and other information and knowledge can be shared across the variety of roles and disciplines, and stakeholders in a collaborative manner, for example how developments in research get translated readily into healthcare delivery; how patients’ needs influence the resources agenda, or how cost-effective approaches developed in low-income settings can influence practices in high-income settings
- Advocacy – the sharing of knowledge to advance the field of genomics and genetic medicine to those who can influence the growth of the field
Techniques and best practice for the collection, curation, interpretation and sharing of genetic variation data must be shared in a variety of ways. The Human Variome Project Solution Blueprint will describe the standards and guidelines developed by the Consortium. But the Project must go further than this and continually seek to improve the learning and training opportunities for Consortium members through knowledge exchange ventures, professional development and training courses.
Beyond the Consortium, the Human Variome Project has a role to play in providing public education initiatives that increase knowledge about the molecular basis of disease and why the availability of data will provide opportunities for research and treatment, and how the public and policy makers can assist the Project by making their information available for use and inclusion in Human Variome Project data repositories.
To develop a more strategic approach to education and training in response to global pressures and expanding need for skills and knowledge in the next 5 to 10 years. Lack of specialized staff is one of the more serious problems facing the field according to many analysts and commentators in recent years.
The development of new approaches to healthcare as a result of genomics and genetic medicine raises several issues in relation to building the skills and knowledge to meet future needs. There are three main areas of focus:
- As with most areas of innovation and change, there is a growing demand for knowledge and expertise but a relatively poor supply of people with these skills; this situation can severely limit the capacity of the field to provide a full range of services to the community and encompasses all the relevant roles including researchers, clinicians, diagnosticians, counsellors
- There is a need to ensure that other fields of medicine and healthcare are kept abreast of developments in the field of genomics and genetics medicine that may impact on them and their work
- The demand for knowledge and understanding from those not directly involved in the field professionally but whose grasp of key issues can influence the growth of the field, including politicians, policy makers, donors, patients and their families, the media and even the general public.
There is a growing divide in access to knowledge and information about developments in genomics and genetic medicine between the developed and the developing world. This has negative consequences for development of good quality services and who has access to them in different parts of the world.
There is increasing emphasis on working in new ways as a result of developments in the field: the use of multidisciplinary teams, collaborative efforts across institutions and across professional and paraprofessional roles are increasingly common. The need to develop the skills necessary to support effective coordination, collaboration and communication are important. As the costs of providing healthcare services continues to rise, there will be increasing pressure to contain costs and redistribute resources in more innovative ways but without sacrificing quality of services in the areas of genomics and genetic medicine.
Many Consortium members are already actively involved in tackling these issues. Indeed many are leading the debate in their countries and regions. As the interconnectedness between countries of the world strengthens as a result of institutional ties, both educational and labour markets are increasingly global. Individuals travel between countries for education, professional development and employment. In response to this Human Variome Project Consortium members need to share best practice and encourage others to contribute to the pool of skills and knowledge in ways that are culturally sensitive and ethically sound with support and assistance from the Human Variome Project itself.