Rare diseases: People, policy and practice. Dr Caroline Graham Office of Population Health Genomics

Transcription

1 Rare diseases: People, policy and practice Dr Caroline Graham Office of Population Health Genomics

2 Background Rare Diseases: People Policy Practice

3 Rare Diseases: People Policy Practice

4 Rare Diseases Individually a disease affects up to 1 in 2000 Typically complex, multi-systemic, chronically debilitating, life-threatening, incurable, nonpreventable and difficult to diagnose Most have no effective treatments Estimated ~ 5000 to 8000 rare diseases Collectively affect 6-8% of the Australian population >1.2 million people > 400,000 children - similar to the prevalence of diabetes. Significant public health system costs

5 Rare Diseases: People Policy Practice

6 Policies and Guidelines Mandatory reporting of developmental anomalies Paired Kidney Exchange Program Familial Hypercholestrolaemia Cascade Screening Program Developing a national policy framework for newborn bloodspot screening Working to strengthen newborn hearing screening programs in WA and nationally

7 State Rare Diseases Strategy Purpose: to provide a framework for the coordination of WA Health initiatives for RD Aims: 1. To advance RD planning in WA and Australia 2. To promote a person-centred approach throughout WA Health for people living with RD 3. To contribute to a high quality health system for people living with RD 4. To foster world class research on RD Sitting under these aims are 12 objectives and 50+ initiatives

8 Rare Diseases: People Policy Practice

9 Translating evidence and policy into practice Develop national rare disease registries for Australia Link Australian registries internationally Facilitate patient access to international clinical trials Ensure clinical utility of registries and biobanks for Australian clinicians Develop a diagnostic pipeline for clinical genetics to provide a framework for use of next gen sequencing for the diagnosis of rare diseases

10 Guidelines for Biobanks WA guidelines were drafted in 2009 Modified OECD 2008 draft guidelines Open consultation with stakeholders including general public Government operational directive in 2010 Guidelines provide operational transparency and ethical frameworks Guidelines for human biobanks, genetic research databases and associated data. WA Department of Health, 2009

11 Western Australian biobanks Teeth RNA Urine Derived cell lines Saliva Embedded clinical Numerous (> 100 in WA alone) No registry of biobanks Narrow research focus Duplication of effort Access by external researchers occurs infrequently Blood 8 Buffy Coats 9 Serum/Plasma 11 Tissue Samples 15 DNA 55

12 ..is a global infrastructure project that will link up databases, registries, biobanks and clinical bioinfomatics data into a central portal for rare disease researchers world-wide.

13 RD-Connect - Components Critical components: Information exchange Integration of Phenotype, ontology/common data elements Data management processes Data mining tools Portal development (web) EBI to house raw data

14 Translation of research into clinical practice Using 3D facial photography for diagnosis monitoring disease progression and monitoring drug efficacy.

15 The Faces of Rare Diseases mm Non-invasive, non-irradiating deeply precise 3D facial analysis Screening and diagnosis Treatment monitoring Surgical planning and audit Genotype-phenotype correlation Cross-species comparisons Face to text conversion for text mining Gareth Baynam, Clinical Geneticist

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17 Acknowledgements Office of Population Health Genomics Public Health and Clinical Services Division WA Department of Health Director Service Planning Branch Policy & Community Branch Screening Policy Branch Hugh Dawkins Caroline Graham (Manager) Leanne Lamont Wendy Sun Caron Molster (Manager) Debra Urwin Karla Lister (Manager) Selina Metternick-Jones Currently on maternity leave: Sarah Baxendale and Trinity Mahede