Metabolic Pathways Networks of Care Professor Anne Green Lead - PowerPoint PPT Presentation

Metabolic Pathways Networks of Care Professor Anne Green Lead Scientist Metabolic Biochemistry Network www.metbio.net Presentation to RCPath March 2006 National Metabolic Biochemistry Network

National Metabolic Biochemistry Network

Services for Inherited Metabolic Disorders • Individually rare disorders eg PKU, Lys storage, Mitochondrial – ~600 new cases per year – ~ 10 000 cases attend specialist services • Care Pathway – Newborn screening (PKU & MCADD) – Diagnosis – 200 + specialised lab tests – Treatment & Management of complex therapies – Family testing and prenatal diagnosis • Multidisciplinary team care – Integrated lab service (clinics/MDT) National Metabolic Biochemistry Network

Areas of investigation • Epidemiology • Outcomes • Review of laboratory services • Review of clinical services • The nursing role • The specialist dietitian role • Roles and view of the voluntary sector • Specialist commissioning National Metabolic Biochemistry Network

Estimates of shortfall for patients in specialist care Children Adults Estimated number for UK* 12103 6827 Totals reported 6547 3499 Shortfall 5556 3328 *Based on Northwest rates National Metabolic Biochemistry Network

10-fold geographic variation in patients per 100,000 population Adult patients per100,000 Paediatric patients per100,000 National Metabolic Biochemistry Network

Critical mass: implications for clinical governance Number of patients attending the service National Metabolic Biochemistry Network

Summary of recommendations • Strategic advisory group • Explicit commissioning • Clinical networks • Strengthen laboratory and clinical services • Developing shared care arrangements • Manpower planning and education • Close work with voluntary groups National Metabolic Biochemistry Network

Metabolic Biochemistry (Biochemical Genetics) • Review of the Lab services • Issues • Recommendations • How to go forward?/What is needed National Metabolic Biochemistry Network

Formation of MetBioNet • National Lab Network ( MetBioNet ) – context/background – achievements – review of National needs National Metabolic Biochemistry Network

Background – Genetics Agenda • Specialised services definition no 20 – Includes lab biochemical genetics • Genetics White paper monies 2001 National Metabolic Biochemistry Network

Metabolic Biochemistry 2002 – lab services for IMD under pressure • increasing workload • demands for new tests • newborn screening developments • robustness of rare, v rare tests (single providers) • small size and very specialist • vacancies/unable to recruit to CS posts – part of general Clinical Biochemistry & Genetics – no manpower or training plan • retirements & succession planning, need to specialise) – lack of awareness of issues by others/DH National Metabolic Biochemistry Network

DH Genetics Project • Form a network of stakeholder laboratories across UK – Communication – Sharing of information – Common practices • Address key issues – Manpower plan – Training strategy – Service provision – Assay directory – Develop guidelines – Quality initiatives National Metabolic Biochemistry Network

Genetics Development Project • DH project – Oct 2002 - Oct 2004 – extended to April 2006 – Limited funds for 2006/7 • Hosted – Birmingham Children’s Hospital • Lead Scientist – 0.4 wte – A/C support National Metabolic Biochemistry Network

Metabolic Biochemistry Labs in Stakeholders UK National Metabolic Biochemistry Network

Stakeholder Laboratories (n=16) Lab size/ Populations served Size of Population • 4 million or greater 5 • 3 - 3.9 million 2 • 2 - 2.9 million 6 • 1 - 1.9 million 3 • CPA Accreditation – 15/16 accredited National Metabolic Biochemistry Network

Typical Lab • Newborn screening – ~50 – 70 000 newborns pa – 250 000 - 350 000 tests pa • Diagnostic tests (metabolites,enzymes,molecular) – ~ 10 000 – 20 000 pa National Metabolic Biochemistry Network

Outcomes • Manpower survey • Training strategy • Web site • Assay directory • Guidelines • Workshops • Quality & Audit initiatives • Service review (part of the Burton document) National Metabolic Biochemistry Network

Manpower 2004/5 n= 71 Clinical Scientists Number ( wte) Grade Consultant 22 (13.6) (scientist & medical) Principal 24 (19.85) Senior 25 (21.7) National Metabolic Biochemistry Network

Training Outcome • Metabolic Biochemistry – recognised sub modality (HPC) • Lead Trainer ( DH funded for 3 years) – 0.4 wte – June 2004 • Local Trainers ( DH funded for 3 years from 2004) – London for South ( 0.4wte) – Sheffield for North (0.4 wte) – B’ham for Midlands /South West/East Anglia(0.8 wte) • HSTs Clinical Scientists (5 year posts) – 8 new posts from DH Genetics 2004/5 – (3 posts funded WDDs) National Metabolic Biochemistry Network

www.metbio.net National Metabolic Biochemistry Network

View Stakeholder Details National Metabolic Biochemistry Network

Training and Education - Documents National Metabolic Biochemistry Network

Training and Education - Presentations National Metabolic Biochemistry Network

Best Practice Guidelines National Metabolic Biochemistry Network

Metabolic Assay Directory National Metabolic Biochemistry Network

Metabolic Assay Directory - Search National Metabolic Biochemistry Network

Service assessment • Questionnaires – October – Dec 2003 – Manpower- May 2004 – Workload/Diagnoses -Feb 2005 • Lab size • Core test provision • Specialist test provision • Equipment • Turnaround times • Staffing • Training National Metabolic Biochemistry Network

Main laboratory findings • Vulnerability of some tests • Compromised turn around times • No formal out of hours service • Accommodation increasingly inadequate • Urgent need for new and replacement equipment (AA, GCMS) • Need recruitment of 49 new trainee clinical scientist and 46 biomedical scientists over next 5 years • Continuing £ support for the network National Metabolic Biochemistry Network

Laboratory recommendations • Continue and develop as integral part of MDT • Increase workforce resources • Capital investment • Investment in education and training • Review of accommodation • Develop database for IMD diagnoses • Detailed planning for very specialised tests (Current & new) National Metabolic Biochemistry Network

What is needed • Investment/Commissioning for new developments: – Newborn screening (sickle, CF MCADD etc) – Diagnostic services National Metabolic Biochemistry Network

What is needed • Investment/Commissioning for new developments: – Newborn screening (sickle, CF MCADD etc) – Diagnostic services • Sustained investment in training ( current funding ceases 2007) – Trainers (for many health professionals) – Trainees National Metabolic Biochemistry Network

What is needed • Investment/Commissioning for new developments: – Newborn screening (sickle, CF MCADD etc) – Diagnostic services • Sustained investment in training ( current funding ceases 2007) – Trainers (for many health professionals) – Trainees • Funding to continue the network infrastructure – current services – develop data base of disorders National Metabolic Biochemistry Network

What is needed • Investment/Commissioning for new developments: – Newborn screening (sickle, CF MCADD etc) – Diagnostic services • Sustained investment in training ( current funding ceases 2007) – Trainers (for many health professionals) – Trainees • Funding for the network infrastructure – Current services – develop data base of disorders • Metabolic Medicine Training for Adult services – Training fit for purpose ( currently inadequate as I year) – Consultant posts National Metabolic Biochemistry Network

What is needed • Investment/Commissioning for new developments: – Newborn screening (sickle, CF MCADD etc) – Diagnostic services • Sustained investment in training ( current funding ceases 2007) – Trainers (for many health professionals) – Trainees • Funding for the network infrastructure – Current services – develop data base of disorders • Metabolic Medicine Training for Adult services – Training fit for purpose ( currently inadequate as I year) – Consultant posts National Metabolic Biochemistry Network

Acknowledgements • Jim Bonham , Sheffield • Public Health Genetics Unit • Mick Henderson, Leeds – Hilary Burton – Simon Sanderson • Stakeholder Colleagues • DH Genetics • Mary Dowling Birmingham • Birmingham Children’s • ACB Training Committee Hospital • Royal College Pathologists (SAC Clin Biochem & Genetics) • British Inherited Metabolic Disorders Group (BIMDG) National Metabolic Biochemistry Network