Transcript No Slide Title

Inherited metabolic disease:
needs assessment and review of
services in the United Kingdom
Hilary Burton
Public Health Genetics Unit
Cambridge
November 2005
General presentation
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
Stakeholder group
Consultants from IMD services

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
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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
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Ms Paula Hallam

Mrs Marjorie Dixon
Voluntary organisations

Mr Alastair Kent
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Mrs Ann Phillips
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Mr Steve Hannigan
Commissioning
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Mrs Sue Mather
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Mr Simon Griffith
Workforce development
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Mrs Debbie Hilder
PHGU
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Dr Mark Kroese

Dr Hilary Burton (Chairman)

Dr Simon Sanderson
Thanks to Joint Committee on Medical Genetics for commissioning this work and
Department of Health for providing funding
Current relevance

A major subset of genetic disease


Substantial mortality and morbidity
Large requirement for testing
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Metabolic biochemistry laboratories

Molecular genetic tests
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Rapidly developing area for diagnosis and treatments
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Increasing survival to adulthood – need for adult services
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Some expensive treatments funded through NSCAG
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A national screening programme (PKU) and one further pilot (MCADD)
for early detection
Main areas of investigation
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Epidemiology
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Outcomes
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Review of laboratory services
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Review of clinical services
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The nursing role
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The specialist dietitian role
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Roles and view of the voluntary sector
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Specialist commissioning
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
Disorders of metabolic pathways involved in IMD
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Amino acid (eg PKU)
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Fatty acid oxidation
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Urea cycle
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Peroxisomal
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Carbohydrate
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Mitochondrial
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Organic acid
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Metals
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Glycogen storage
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Lipids and steroids
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Lysosomal storage
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Porphyrin and haem
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Purine and pyrimidine
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Others
At least 500 disorders
Complexity and variability of
Category
Condition
Amino acid disorders
PKU
Homocystinuria
Maple Syrup Urine disease
Tyrosinaemia
Urea cycle disorders
Carbamyl synthetase deficiency
Ornithine carbamyl transferase deficiency
Citrullinaemia
Arginosuccinic aciduria
Carbohydrate disorders
Galactosaemia
Fructose disorders
Organic acid disorders
Isovalearic acidaemia
Methymalonic acidaemia
Glutaric acidaemia type I
Methylglutaric acidaemia
Propionic acidaemia
Biotinidase deficiency
classification
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Many subgroups of each of
these main areas
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Genetic heterogeneity
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Disease definitions and
diagnostic criteria not
standardised
-depending on whether you are a “lumper” or a “splitter”
How many new cases per year?
From literature
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About 900 per year
Category
Condition
Amino acid
disorders
PKU
Homocystinuria
Maple Syrup Urine disease
Tyrosinaemia
Total all amino acid¶
Urea cycle
disorders
New epidemiological research
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From UK laboratory diagnoses
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Carbamyl synthetase
deficiency
Ornithine carbamyl transferase
deficiency
Citrullinaemia
Arginosuccinic aciduria
Total all urea cycle
International
incidence
(live births)
1 in 291,000
1 in 185,000
UK incidence
(live births unless specified
otherwise)
UK number of
new cases a year
(denominator UK
793,000 live births;
UK data used if
possible)¶
1 in 12,000
66
1 in 234,000
0 in 494,000
1 in 105,000
1 in 7,500
Wide international
variation
1 in 70,000 Italy
1 in 500,000 Canada
1 in 80,000–500,000
1 in 30,000
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
3
0?
7
105
11
1.6
1.6–10
26
Facts and figures from epidemiology
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Over 500 inherited metabolic disorders
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Individually rare but collectively common (birth prevalence 1 in
2,500-5,000 live births)
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Little data specific to UK; data needs to be interpreted carefully
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Estimate 1,087 new cases per year (excluding ADD and FH)
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Estimate 200 deaths per year with IMD as primary cause
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40% of deaths occur in children under 14 years
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The lack of a national register seriously hampers research and
service planning
Main outcomes sought from specialist services
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Decrease in mortality
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Decrease in morbidity
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Reduction in disability
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Prevention of harm to family members
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Prevention of damage to the unborn child
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Reproductive choice
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Overall quality of life (reduction of handicap)
Can we make a difference?
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Phenylketonuria
Women who do not maintain
strict diet control during
pregnancy are at risk of
severe damage to unborn
child
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OCT* deficiency
Women need strict control and
availability of ICU during
childbirth because of risk of
metabolic crisis
*Ornithine carbamyl transferase deficiency (a urea cycle disorder)
Dietitians at GOS
teach teenagers
about PKU diet
Why are specialist services required?
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Large group of rare conditions – need for special knowledge and
access to international support
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Complex lifelong treatments – need for dietitians, nurses
psychologists, systems for long term follow-up and shared care
arrangements
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Many acute episodes requiring intensive care – need for 24 hour
access
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Patients and families cope with severe difficulties and disabilities
– need for good liaison with voluntary organisations and other
agencies, patient information
A quick look at “specialist” services in UK
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Where are they?
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Do they have comprehensive
clinical teams?
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Clinical provision in relation to
population size
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Critical mass of patients
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Importance of laboratory
services
Listing of specialist services
Northeast
Newcastle adult
Newcastle child
Northwest
Manchester IMD
service
Willink Manchester
Liverpool
Yorkshire and
Humber
Leeds
Bradford
Sheffield adult
Sheffield children
London &
Southeast
London Guys
London Royal Free
London GOSH
London UCH
Southwest
Bristol Royal
Bristol Southmead
Wales
Cardiff
Scotland
Edinburgh
Glasgow
Aberdeen
Dundee
N Ireland
Belfast
East Midlands
West Midlands
Eastern
Birmingham
Cambridge adult
Cambridge children
Clinical teams are very patchy
Medical
Nursing
Dietitians
Whole time equivalents
Ten-fold regional variation in total clinical workforce per
million population
Total clinical workforce (wte) per million population
Average number of out-patient sessions per week
Number of sessions
Comparisons of regional rates of out-patient provision
Average weekly out-patient sessions per million population
Critical mass: implications for clinical governance
Number of patients attending the service
Parameters for comprehensive services
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Workforce
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Out-patient provision
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Adult and paediatric services
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Integration with laboratory services
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30 point scale
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2 services had almost full rating
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21-28 points – 5 services
Outreach services
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11-20 points – 7 services
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Links with other specialist services
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0-10 points – 6 services
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Number of patients
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Patient database
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Audit
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Regional provision
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Formal commissioning
arrangements
Note
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4 regions only middle category
service
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2 regions only a bottom category
service or no service
Pages 20 and 21 of overview document
The specialist dietitian role
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Roles in IMD feeding regimes (therapeutic dietary treatment, emergency
regimens and nutritional support)
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Long term follow up and adjustment
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Referral to other professionals
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Education for patients, families and carers
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Counseling and emotional support
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Education, support and liaison with health professionals
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Dietitian led clinics
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Development, evaluation, protocols, guidelines, audit and research
Dietitian workforce in IMD
Whole time equivalents
Dietitians duration in current post
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Some very experienced
practitioners
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However, for those with less
experience particularly there
is a need for formal
education and training
Dietitians: main recommendations
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Establish dietitians in every centre with consideration of staffing
mix
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Adequate resources to support peripheral services and
undertake education, developmental work and research
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Working party to develop and implement educational
programmes and training placements
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New MSc module
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Training rotations
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Support for training days and other less formal education
Nursing: main roles
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Information, practical and emotional support in acute phase and over long period
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Specialist expertise to other teams
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Managing acute crises
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Multidisciplinary work
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Familial aspects
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Clinical trials
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Managing misdiagnosis
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Education, coordination, telephone advice,
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Nurse led service
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Administration
Specialist nursing whole time equivalents
Ten services have more than 1 WTE:
Ten services have no specialist nursing input at all
Nurses: duration in current post
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Only 21 per cent have more
than five years experience
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There is a great need for
formal education and training
programmes
Nursing: main recommendations
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Clinical nurse specialist/s in every centre
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Extensive roles recognised and developed and adequately
resourced
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Working party integrated with Workforce Development to plan a
programme for development of specialist nurses on national
basis
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Development of formal education and training programmes and
rotations
10-fold geographic variation in patients per 100,000 population
Paediatric patients per100,000
Adult patients per100,000
Estimates of shortfall for patients in specialist care
Children
Adults
12103
6827
Totals reported
6547
3499
Shortfall
5556
3328
Estimated number for UK*
*Based on Northwest rates
Unmet needs – arising from service review
Measured
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831 adults looked after in paediatric clinics
Expressed
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Lack of clinical resources for MDT
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Provision of regional service and network
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Lack of nursing and dietetic support
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Difficulty dealing with patients diagnosed from new screening programmes
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No resources to develop shared care, education, protocols and support to
families
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Education programmes for nurses and dietitians
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Little time for staff development
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PKU patients “turning up” in pregnancy
Assessment of quality
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Effectiveness: 9,000 patients not in specialist care
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Efficiency: services too thinly spread, lack of critical mass
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Accessibility: long distances, no systems for shared care
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Equity: geographical, disease and age related inequalities
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Relevance: services have never been properly planned
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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
Main laboratory findings
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Vulnerability of some tests
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No formal out of hours service
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Accommodation increasingly
inadequate
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Urgent need for new and
replacement equipment
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Need recruitment of 49 new trainee
clinical scientist and 46 biomedical
scientists over next 5 years
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Continuing support for laboratory
network
Laboratory recommendations
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Continue and develop as integral part of MDT
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Increase workforce resources
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Capital investment
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Investment in education and training
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Review of accommodation
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Develop database
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Detailed planning for very specialised tests
Voluntary sector view on unmet need (1)
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Better awareness to make diagnosis (health and other services)
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Need better communication with patients around time of diagnosis
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Lack of information from primary/first contact health professionals
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Initial services poor, more harm than good
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Non-specialists do not have experience in management and cannot
advise families. May be reluctant to refer
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Local health professionals do not seek specialist advice
Voluntary sector unmet need (2)
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Less than half of patients looked after by specialist services (CLIMB)
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Long journeys or no services for people living at distance from
specialist services
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Specialist services are very vulnerable
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Emergency services can be difficult and traumatic
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Services for young adults
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Ongoing support – patient is left with little or no advice
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Long term care: poor support, respite care, financial assistance,
incontinence services etc
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Lack of knowledge by education services
Voluntary organisation recommendations
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Increase profile of services for rare disorders
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Disease registers established and supported
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Programme of education for health professionals and commissioner
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Mechanisms and materials developed to support non specialist professionals
involved in patient care
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Comprehensive and specialist services available to all patients
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Voluntary organisations to promote importance of specialist services with their
membership
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Care pathways to be developed
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Accessibility to PGD
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Health services to work with other agencies to improve long term support
Review of commissioning
Variation in commissioning of specialised services and so difficult to
develop a coherent national approach
Need to:
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Ensure adequate access to appropriate services
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Ensure adult and transitional services
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Develop clinical networks and multi-disciplinary teams
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Support training and education of key staff
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Provide funding for enzyme replacement therapy

Have information to support the commissioning process (eg numbers of
patients, where treated, costs, quality and outcomes)
Provisional recommendations on commissioning to DH, national
bodies and commissioners
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Raising the profile of inherited metabolic disease
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Enabling the commissioning processes (eg supra SCG network)
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Providing support for specialist commissioners by:

Education about IMDs
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Developing information to support the commissioning processes
Supporting developing services by
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
National register for IMD

Working party on workforce
Summary of recommendations
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Strategic advisory group
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Explicit commissioning
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Clinical networks
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Strengthen laboratory and clinical
services
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Developing shared care
arrangements
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Manpower planning and
education

Close work with voluntary groups
Overall recommendations:organisational

Commissioning of comprehensive services

Development of a national register/database
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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
Requirements for clinical networks

Coordinated and integrated paediatric, adult and laboratory
services
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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
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
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
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