Quality standards for DNA sequence variation databases to improve clinical management under development in Australia

B Bennetts; M Caramins; A Hsu; C Lau; S Mead; C Meldrum; T D Smith; G Suthers; G R Taylor; R G H Cotton; V Tyrrell

doi:10.1016/j.atg.2014.07.002

Quality standards for DNA sequence variation databases to improve clinical management under development in Australia

Appl Transl Genom. 2014 Jul 10;3(3):54-7. doi: 10.1016/j.atg.2014.07.002. eCollection 2014 Sep 1.

Authors

B Bennetts¹, M Caramins², A Hsu³, C Lau⁴, S Mead⁵, C Meldrum⁶, T D Smith⁷, G Suthers⁸, G R Taylor³, R G H Cotton⁷, V Tyrrell⁴

Affiliations

¹ Western Sydney Genetics Program, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia.
² SDS Pathology, North Ryde, NSW 2113, Australia.
³ Genomic Medicine, Department of Pathology, University of Melbourne, Melbourne, VIC 3010, Australia.
⁴ Royal College of Pathologists of Australasia, 207 Albion Street, Surry Hills, NSW 2010, Australia.
⁵ South Eastern Sydney Laboratory Services, Prince of Wales Hospital, Randwick, NSW 2031, Australia.
⁶ Hunter Area Pathology Service, John Hunter Hospital, New Lambton Heights, NSW 2305, Australia.
⁷ Genomic Medicine, Department of Pathology, University of Melbourne, Melbourne, VIC 3010, Australia; Human Variome Project International, Level 5, 234 Queensberry Street, University of Melbourne, VIC 3010, Australia.
⁸ SA Clinical Genetics Service, SA Pathology, Adelaide, SA 5000, Australia; Department of Paediatrics, University of Adelaide, SA 5008, Australia.

Abstract

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. The outputs of this project will be promoted to other health systems and accreditation bodies by the Human Variome Project to support the development of similar frameworks in other jurisdictions.

Keywords: Data quality; Genetic variation databases; Global knowledge sharing; Standards.