Despite the routine nature of comparing sequence variations identified during clinical testing to database records, few databases meet quality requirements for clinical diagnostics.
To address this issue, The Royal College of Pathologists of Australasia (RCPA) in collaboration with the Human Genetics Society of Australasia (HGSA), and the Human Variome Project (HVP) is developing standards for DNA sequence variation databases intended for use in the Australian clinical environment.
Their Project paper, titled “Quality standards for DNA sequence variation databases to improve clinical management under development in Australia” was published in the Inaugural Issue of Applied & Translational Genomics in September 2014.
One of the issues discussed in the paper was the challenge of gaining international consensus and commitment to consistent standards in medical testing.
One mechanism for achieving this outcome is the Human Variome Project, an international initiative to integrate the routine and responsible sharing of genetic variation information into standard clinical practice.
The Human Variome Project is a consortium of researchers, diagnosticians and health-care professionals committed to the free and open sharing of genetic variation information generated during clinical testing, thereby leading to better patient outcomes and more accessible genetic health services.
The Project is working towards establishing globally acceptable Standards and Guidelines for the collection, curation, interpretation and sharing of genomic knowledge and enabling the sustainable development and operation of a harmonized and federated global knowledge sharing network.
A key aspect of this work is harmonizing national and regional efforts around regulatory frameworks and governance of electronic data repositories and knowledge sharing infrastructure. The Project, through its Variant Database Quality Assessment Working Group has specified guidelines for quality parameters that should be assessed in a quality accreditation scheme (in press).
In addition to The Human Variome Project global initiatives, Australia is well represented in the Global Alliance for Genomics and Health, with Alliance partners including the Human Variome Project, National Health and Medical Research Council (NHMRC), Australian Genome Research Facility, Garvan Institute of Medical Research, Melbourne Genomics Health Alliance and other highly regarded groups.
The paper concluded that regulating the quality, accuracy, and relevance of DNA sequence variation databases and the data held within them through the implementation of standards will reduce the risk of aberrant or uninformative variants being reported, promote the sharing of clinical quality sequencing, and accelerate the delivery of accurate, actionable, and efficient clinical reports to improve patient management and outcomes.
One of the co-authors of the paper Vanessa Tyrrell, Senior Project Manager: DNA Sequencing Project from The Royal College of Pathologists of Australasia, will be speaking at the upcoming Genomics in Healthcare Conference, taking place on 13th November at Swissotel in Sydney. She will be speaking on the topic “Medicare funding of Genomics” at the event.
Join Vanessa and many other industry experts at this topical one-day event to discuss all the latest on the policy, economics, legal and social aspects of genomics. View the detailed agenda and register at the Genomics in Healthcare Conference website.