Rare diseases learning from rare cancers — ASN Events
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  3. Rare diseases learning from rare cancers

Rare diseases learning from rare cancers (#3)

Hugh J.S Dawkins 1 2 3 4 , Caron Molster 1 , Caroline E Graham 1 , Karla Lister 1 , Leanne Lamont 1 , Selina Metternick-Jones 1 , Trinity Mahede 1 , Debra Urwin 1 , Jack Goldblatt 1 5 , Gareth S. Baynam 1 5 , Nicholas Pachter 1 5 , Tarun Weeramanthri 6
  1. Office of Population Health Genomics, WA, Australia
  2. Centre for Comparative Genomics, Murdoch University, Murdoch
  3. Centre for Population Health Research, Curtin University of Technology, Bentley
  4. School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands
  5. Genetic Services WA, King Edward Memorial Hospital, Subiaco
  6. Public Health Division, Department of Health, Government of Western Australia, Perth

Department of Health, Government of Western Australia (WA Health) provides health care to all West Australians across the vast geographical area of the State, with particular focus on the health of those people in the community at most need of health care. WA Health has express values that underpin their service delivery models including developing person-centric approaches that help to improve the patient journey.

To meet the emerging, and convergent, genetic and bioinformatic technologies, WA Health established the Office of Population Health Genomics, in 2001, as a specialist policy unit for translation of new genomics knowledge into the public health system. As a result WA Health recognises that genomics, and more particularly, rare diseases issues, while impacting locally require decisions that need to be formulated globally, based on international evidence and experiences. Consequently, WA Health has established strong international networks including: International Rare Diseases Research Consortium (IRDiRC), with aspirational aims to develop 200 new therapies and disease classification code for most rare diseases by 2020; and Global Alliance for Genomics and Health (GA4GH). One example of applying new knowledge locally is the recent endorsement of the WA Rare Diseases Strategic (RD) Framework 2015-2018 and our engagement in the Inherited Cancer Consortium (ICCon). The RD Framework builds on international evidence and experiences and application of this knowledge to create a person centric approach for the translation of genomics knowledge for the benefit of the people of Australia. The experiences of people living with rare diseases, which include 25% of all adult cancers and 100% of all pediatric cancers, are shared. Clinical services dealing with inherited, rare and pediatric cancers have developed very good health pathways, and while more needs to done, provide models of care that can inform the broader rare diseases community. The need for improved, and an on-going, dialogue with Indigenous communities is critical to ensure the Aboriginal people in Australia are not left behind at this crucial time as we apply new genomics knowledge into the public health system. The RD Framework will guide clinical genomic translation into the health services and help to inform the Australian Health Ministers’ Advisory Council agenda item on the need for a National Plan for Rare Diseases in Australia.

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