Inherited metabolic disease: needs assessment and review of services in the United Kingdom

1. Inherited metabolic disease: needs assessment and review of services in the United Kingdom Hilary Burton Public Health Genetics Unit Cambridge November 2005 General presentation

2. Purpose of the review PHGU commissioned by the Joint Committee on Medical Genetics to: • Undertake a health needs assessment and service review • Make recommendations based on the findings Important to: • Develop ownership of process and findings to enable implementation

3. Consultants from IMD services Dr Anupam Chakrapani Dr Patrick Deegan Dr Godfrey Gillett Dr Philip Lee Professor James Leonard Dr Peter Robinson Dr Graham Shortland Dr John Walter Dr Clodagh Loughrey Metabolic biochemistry network Professor Anne Green Nursing Mrs Alison Cousins Dietetics Ms Paula Hallam Mrs Marjorie Dixon Voluntary organisations Mr Alastair Kent Mrs Ann Phillips Mr Steve Hannigan Commissioning Mrs Sue Mather Mr Simon Griffith Workforce development Mrs Debbie Hilder PHGU Dr Mark Kroese Dr Hilary Burton (Chairman) Dr Simon Sanderson Stakeholder group Thanks to Joint Committee on Medical Genetics for commissioning this work and Department of Health for providing funding

4. Current relevance • A major subset of genetic disease • Substantial mortality and morbidity • Large requirement for testing • Metabolic biochemistry laboratories • Molecular genetic tests • Rapidly developing area for diagnosis and treatments • Increasing survival to adulthood – need for adult services • Some expensive treatments funded through NSCAG • A national screening programme (PKU) and one further pilot (MCADD) for early detection

5. Main 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

6. What is IMD? • A large group of inherited diseases each caused by deficient activity in a single enzyme in intermediary metabolism • Cause multiple problems because of deficiency of essential products or build-up of unwanted or toxic products • Examples include phenylketonuria, Gaucher disease, disorders of mitochondria and peroxisomes

7. Amino acid (eg PKU) Urea cycle Carbohydrate Organic acid Glycogen storage Lysosomal storage Purine and pyrimidine Fatty acid oxidation Peroxisomal Mitochondrial Metals Lipids and steroids Porphyrin and haem Others Disorders of metabolic pathways involved in IMD

8. At least 500 disorders- • Complexity and variability of classification • Many subgroups of each of these main areas • Genetic heterogeneity • Disease definitions and diagnostic criteria not standardised -depending on whether you are a “lumper” or a “splitter”

9. How many new cases per year? From literature • About 900 per year New epidemiological research • From UK laboratory diagnoses • 500-600 per year • From new diagnoses in West Midlands over a 5 year period • About 1 in 800 live births • About 800 per year in UK

10. Facts and figures from epidemiology • Over 500 inherited metabolic disorders • Individually rare but collectively common (birth prevalence 1 in 2,500-5,000 live births) • Little data specific to UK; data needs to be interpreted carefully • Estimate 1,087 new cases per year (excluding ADD and FH) • Estimate 200 deaths per year with IMD as primary cause • 40% of deaths occur in children under 14 years • The lack of a national register seriously hampers research and service planning

11. Main outcomes sought from specialist services • Decrease in mortality • Decrease in morbidity • Reduction in disability • Prevention of harm to family members • Prevention of damage to the unborn child • Reproductive choice • Overall quality of life (reduction of handicap)

12. Can we make a difference? • Phenylketonuria Women who do not maintain strict diet control during pregnancy are at risk of severe damage to unborn child • OCT* deficiency Women need strict control and availability of ICU during childbirth because of risk of metabolic crisis Dietitians at GOS teach teenagers about PKU diet *Ornithine carbamyl transferase deficiency (a urea cycle disorder)

13. Why are specialist services required? • Large group of rare conditions – need for special knowledge and access to international support • Complex lifelong treatments – need for dietitians, nurses psychologists, systems for long term follow-up and shared care arrangements • Many acute episodes requiring intensive care – need for 24 hour access • Patients and families cope with severe difficulties and disabilities – need for good liaison with voluntary organisations and other agencies, patient information

14. A quick look at “specialist” services in UK • Where are they? • Do they have comprehensive clinical teams? • Clinical provision in relation to population size • Critical mass of patients • Importance of laboratory services

15. Northeast Newcastle adult Newcastle child Northwest Manchester IMD service Willink Manchester Liverpool Yorkshire and Leeds Humber Bradford Sheffield adult Sheffield children East Midlands West Midlands Birmingham Eastern Cambridge adult Cambridge children London & London Guys Southeast London Royal Free London GOSH London UCH Southwest Bristol Royal Bristol Southmead Wales Cardiff Scotland Edinburgh Glasgow Aberdeen Dundee N Ireland Belfast Listing of specialist services

16. Clinical teams are very patchy Medical Nursing Dietitians Whole time equivalents

17. Ten-fold regional variation in total clinical workforce per million population Total clinical workforce (wte) per million population

18. Average number of out-patient sessions per week Number of sessions

19. Comparisons of regional rates of out-patient provision Average weekly out-patient sessions per million population

20. Critical mass: implications for clinical governance Number of patients attending the service

21. Workforce Out-patient provision Adult and paediatric services Integration with laboratory services Outreach services Links with other specialist services Number of patients Patient database Audit Regional provision Formal commissioning arrangements 30 point scale 2 services had almost full rating 21-28 points – 5 services 11-20 points – 7 services 0-10 points – 6 services Note 4 regions only middle category service 2 regions only a bottom category service or no service Parameters for comprehensive services Pages 20 and 21 of overview document

22. The specialist dietitian role • Roles in IMD feeding regimes (therapeutic dietary treatment, emergency regimens and nutritional support) • Long term follow up and adjustment • Referral to other professionals • Education for patients, families and carers • Counseling and emotional support • Education, support and liaison with health professionals • Dietitian led clinics • Development, evaluation, protocols, guidelines, audit and research

23. Dietitian workforce in IMD Wholetime equivalents

24. Dietitians duration in current post • Some very experienced practitioners • However, for those with less experience particularly there is a need for formal education and training

25. Dietitians: main recommendations • Establish dietitians in every centre with consideration of staffing mix • Adequate resources to support peripheral services and undertake education, developmental work and research • Working party to develop and implement educational programmes and training placements • New MSc module • Training rotations • Support for training days and other less formal education

26. Nursing: main roles • Information, practical and emotional support in acute phase and over long period • Specialist expertise to other teams • Managing acute crises • Multidisciplinary work • Familial aspects • Clinical trials • Managing misdiagnosis • Education, coordination, telephone advice, • Nurse led service • Administration

27. Specialist nursing whole time equivalents Ten services have more than 1 WTE: Ten services have no specialist nursing input at all

28. Nurses: duration in current post • Only 21 per cent have more than five years experience • There is a great need for formal education and training programmes

29. Nursing: main recommendations • Clinical nurse specialist/s in every centre • Extensive roles recognised and developed and adequately resourced • Working party integrated with Workforce Development to plan a programme for development of specialist nurses on national basis • Development of formal education and training programmes and rotations

30. 10-fold geographic variation in patients per 100,000 population Paediatric patients per100,000 Adult patients per100,000

31. Estimates of shortfall for patients in specialist care *Based on Northwest rates

32. Unmet needs – arising from service review Measured • 831 adults looked after in paediatric clinics Expressed • Lack of clinical resources for MDT • Provision of regional service and network • Lack of nursing and dietetic support • Difficulty dealing with patients diagnosed from new screening programmes • No resources to develop shared care, education, protocols and support to families • Education programmes for nurses and dietitians • Little time for staff development • PKU patients “turning up” in pregnancy

33. Assessment of quality • Effectiveness: 9,000 patients not in specialist care • Efficiency: services too thinly spread, lack of critical mass • Accessibility: long distances, no systems for shared care • Equity: geographical, disease and age related inequalities • Relevance: services have never been properly planned • Acceptability: services thought deficient by patients and professionals; no formal education for nurses and dietitians; emergency care on goodwill basis; 831 adults attend children’s clinics

34. Main laboratory findings • Vulnerability of some tests • No formal out of hours service • Accommodation increasingly inadequate • Urgent need for new and replacement equipment • Need recruitment of 49 new trainee clinical scientist and 46 biomedical scientists over next 5 years • Continuing support for laboratory network

35. 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 • Detailed planning for very specialised tests

36. Voluntary sector view on unmet need (1) • Better awareness to make diagnosis (health and other services) • Need better communication with patients around time of diagnosis • Lack of information from primary/first contact health professionals • Initial services poor, more harm than good • Non-specialists do not have experience in management and cannot advise families. May be reluctant to refer • Local health professionals do not seek specialist advice

37. Voluntary sector unmet need (2) • Less than half of patients looked after by specialist services (CLIMB) • Long journeys or no services for people living at distance from specialist services • Specialist services are very vulnerable • Emergency services can be difficult and traumatic • Services for young adults • Ongoing support – patient is left with little or no advice • Long term care: poor support, respite care, financial assistance, incontinence services etc • Lack of knowledge by education services

38. Voluntary organisation recommendations • Increase profile of services for rare disorders • Disease registers established and supported • Programme of education for health professionals and commissioner • Mechanisms and materials developed to support non specialist professionals involved in patient care • Comprehensive and specialist services available to all patients • Voluntary organisations to promote importance of specialist services with their membership • Care pathways to be developed • Accessibility to PGD • Health services to work with other agencies to improve long term support

39. Review of commissioning Variation in commissioning of specialised services and so difficult to develop a coherent national approach Need to: • Ensure adequate access to appropriate services • Ensure adult and transitional services • Develop clinical networks and multi-disciplinary teams • Support training and education of key staff • Provide funding for enzyme replacement therapy • Have information to support the commissioning process (eg numbers of patients, where treated, costs, quality and outcomes)

40. Provisional recommendations on commissioning to DH, national bodies and commissioners • Raising the profile of inherited metabolic disease • Enabling the commissioning processes (eg supra SCG network) • Providing support for specialist commissioners by: • Education about IMDs • Developing information to support the commissioning processes • Supporting developing services by • National register for IMD • Working party on workforce

41. 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

42. Overall recommendations:organisational • Commissioning of comprehensive services • Development of a national register/database • Development of a framework of service provision, a strategy for service development and a continuing overview of provision throughout the UK • Development of formal education and training programmes for all professions and support for education (working groups) • Cooperation to develop educational resources for use with patients and other professionals • Cooperation to develop and formalise professional roles, protocols, audits etc

43. Requirements for clinical networks • Coordinated and integrated paediatric, adult and laboratory services • Services to handle workload from newborn screening • Critical mass of MDT to provide 24 hour care • Formal arrangements with supporting tertiary specialties • Support to district general hospitals • Education and training for professionals • Clinical and laboratory databases for monitoring and audit • Supporting information for commissioners

44. Development of manpower and education • A problem for all laboratory and clinical professionals • Laboratory programmes need to be planned beyond current cohort • Need an expansion of medical education – planning for specialties • Need formal courses and training placements to be developed for nurses and dietitians • Need to work through Workforce Development programme for small specialties • Need working groups to plan and take forward

45. Resource implications Areas for increased resources: • To develop infrastructure • To increase clinical workforce (approximately double) • To ensure adequate laboratory provision • To develop education and training programmes The minimum estimated extra annual investment required for UK to develop IMD services is approximately £7 million

46. In conclusion • “Professionals and patient groups have worked together to produce a detailed review that brings together scientific evidence on the epidemiology of inherited metabolic disease with a careful assessment of services for patients • We now have a framework for looking at how we organise services … • The review provides the impetus for the IMD community to work towards improving the delivery of services .. and ultimately the quality of life and outcome for our patients” Graham Shortland Chairman of the British Inherited Metabolic Disease Group