Hugh J.S Dawkins
Professor Dawkins leads the Office of Population Health Genomics (OPHG) in the development and management of policies, plans and statewide services to minimise the impact of genetic and rare diseases within Western Australia. He provides advice and recommendations on issues relating to genetic testing, screening, gene patents, genetic privacy, stem cell therapy and the translation of new knowledge and technologies to improve public health services. OPHG is currently responsible for leading the Western Australian State strategy for rare diseases and prepared a scoping paper, at the request of the Australian Health Ministers’ Advisory Council (AHMAC) on the need for a National rare disease plan for Australia. Specifically in relation to translation, OPHG is currently leading the development of a national framework for newborn (bloodspot) screening; developing with the Genetic Services of WA a genetic diagnostic pipeline which includes integrating enabling phenotyping tools; and developing a national approach to the incorporation of massively parallel sequencing into clinical diagnostic services. OPHG are also gathering population based epidemiological and social evidence on the impact of rare diseases within the community and across the broader health sector.
Abstracts this author is presenting: