NCARDRS National Congenital Anomaly and Rare Disease Registration Service

1. NCARDRSNational Congenital Anomaly andRare Disease Registration Service Mary Bythell, NCARDRS Head of Rare Disease Registration

2. NCARDRS – key deliverables • support and empower patients and their carers, by providing a national register of their disease or disorder. • provide a resource for clinicians to support high quality clinical practice. • provide epidemiology and monitoring of the frequency, nature, cause and outcomes of these disorders. • support research into congenital anomalies and rare diseases. • inform theplanning and commissioning of public health and health and social-care provision. • Provide a resource to monitor, evaluate and audit health and social-care services, including the efficacy and outcomes of screening programmes. National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) RaDaR September 2019

3. National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) RaDaR September 2019 Presentation title - edit in Header and Footer

4. 40 staff members • Honorary contract holders • 8 offices across England • Established 2015 • Public Health England • National Disease Registration • National Cancer Registration and Analysis Service • National Drug Treatment Monitoring System • National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) NCARDRS National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) RaDaR September 2019

5. Information governance • NCARDRS has Section 251 approval to collect non-consented patient identifiable data • Data sharing agreements (DSAs) with most relevant trusts • NCARDRS has legal basis under GDPR to process both personally identifiable data and special category data • Patients have a right to opt out The National Congenital Anomaly and Rare Disease Registration Service

6. Rare disease registration Cancer NCRAS Rare disease Congenital anomalies NCARDRS Infectious disease HP The National Congenital Anomaly and Rare Disease Registration Service

7. Rare disease registration Rare disease Congenital anomalies The National Congenital Anomaly and Rare Disease Registration Service

8. Rare disease areas of focus • Congenital anomalies • National coverage • Increased granular coding • Improved post-natal diagnosis ascertainment • Molecular diagnostic data • Pilot phase • Newborn blood spot IMDs • Retrospective • Prospective • Later onset conditions • Rare rheumatic disease • Wilsons Disease • Early onset diabetes conditions • Collaborations • Academics • Patient groups • Clinicians & clinical networks • Consented & 251 studies • Other government agencies • Routinely collected data • HES • Mortality data • Other datasets held by PHE National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) RaDaR September 2019

9. Working with NCARDRS Two way data sharing Data requests • External funding (or resource) for staff: • Through PHE • Partnership organisation with honorary contract National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) RaDaR September 2019

10. Questions? mary.bythell@phe.gov.uk The National Congenital Anomaly and Rare Disease Registration Service