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Ciliopathy Alliance 5th Anniversary Mtg - 19 Oct 2015 - National Ciliopathies Service proposal
1. A Proposal for A National
Ciliopathy Diagnosis and
Management Service
Dr Richard Scott
Prof Phil Beales
Great Ormond Street Hospital for Children
2. Background
There are existing Nationally commissioned services for:
• Primary Ciliary Dyskinesia
• Alstrom syndrome
• Bardet-Biedel syndrome
In 2011, NHS England suggested there was room to develop a service to
cover other rare ciliopathies to result in cohesive Nationally commissioned
services across all ciliopathies.
This proposal has been in gestation since then.
3.
4.
5. Core Ciliopathy Service team
• To support existing services as required (not replace)
• To provide a shared genetic testing facility
• To add a shared database / patient registry
• To add (and keep up to date) disease-specific management guidelines
and patient information
• To add a web portal – to access guidelines, patient information,
information for referrers, a means of referral, a point of contact
10. The new Rare Ciliopathies Service
• Based on the successful models developed in the existing services
• Involvement of patient support groups in service provision
• Both children and adults will be cared for
• A ‘tiered’ structure of care depending on the complexity of needs
• Favouring local care where possible (with support from the Ciliopathy
Service)
11. A ‘tiered’ structure of care in the new service
• Tier 1
oGenetic diagnostic service only
• Tier 2
oGenetic diagnostic service and disease-specific care plans
• Tier 3
oGenetic diagnostic service and assessment at central MDT
oPredominantly local follow-up and patient-tailored care plan from MDT
• Tier 4
oGenetic diagnostic service and assessment at central MDT
oOngoing follow-up at central MDT and patient-tailored care plant from MDT
12. A ‘tiered’ structure of care in the new service
• Tier 1
oGenetic diagnostic service only
• Tier 2
oGenetic diagnostic service and disease-specific care plans
• Tier 3
oGenetic diagnostic service and assessment at central MDT
oPredominantly local follow-up and patient-tailored care plant from MDT
• Tier 4
oGenetic diagnostic service and assessment at central MDT
oOngoing follow-up at central MDT and patient-tailored care plant from MDT
Local care only
13.
14. A ‘tiered’ structure of care in the new service
• Tier 1
oGenetic diagnostic service only
• Tier 2
oGenetic diagnostic service and disease-specific care plans
• Tier 3
oGenetic diagnostic service and assessment at central MDT
oPredominantly local follow-up and patient-tailored care plant from MDT
• Tier 4
oGenetic diagnostic service and assessment at central MDT
oOngoing follow-up at central MDT and patient-tailored care plant from MDT
Attend central MDT
15.
16. New ‘Rare Ciliopathy’ service
Tier 1 or Tier 2
• Meckel syndrome
• Short rib polydactyly syndromes
• Leber’s congenital amaurosis
• Nephronophthisis
• Usher syndrome
• Senior-Loken syndrome
Tier 3 or Tier 4
• Autosomal recessive polycystic kidney disease
• Joubert and Joubert-like syndromes
• Renal-hepatic-pancreatic dysplasia
• Mainzer-Saldino syndrome
• Jeune syndrome
• Oral-facial-digital syndromes
• Cranioectodermal dysplasia
• Acromelic frontonasal dysplasia
• Ellis-van Creveld syndrome
• Biemond syndrome II
17. New ‘Rare Ciliopathy’ service – MDT clinic
• Genetics consultant
• Endocrine consultant
• Renal consultant
• Ophthalmology consultant
• Neurology consultant
• Respiratory consultant
• Orthopaedics consultant
• Cardiology consultant
• Gastroenterology consultant
• Cardiothoracics consultant
• Specialist nurse
• Genetic counsellor
• Patient liaison officer (support group)
• Clinical psychologist
• Dietician
• Speech and language therapist
• Social Work/Child Protection
• Pharmacy
• Available for advice:
• Radiology consultants
• Fetal medicine consultant
• Pathology consultant
18. New ‘Rare Ciliopathy’ service – MDT clinic
• A similar size service to the existing BBS service
• ~500 patients
• Two sites
• Paediatric and adult services at each site
• 10 Paediatric all day clinics each year at each site
• 15 Adult all day clinics each year at each site
• Efficiency in terms of the need for specialists’ time through clustering
of patients with similar needs together
19. Genetic testing
• For many ciliopathies genetic testing has been
very limited until recently:
• Often 1 gene can cause >1 disorder
• Each disorder can be caused by many genes
• Next generation sequencing makes it feasible
now to test all known ciliopathy genes at
reasonable cost.
• This will improve diagnosis
• And with time, and the assistance of a detailed
patient registry, this will allow greater
delineation of the medical problems related to
each gene
• Perhaps we will even have gene-specific
management guidelines
20. Overview
• A new service for rare ciliopathies
• With a ‘tiered’ structure of care
• To complement existing services
• Time/cost savings
• A shared central service for
• genetic testing
• a web portal
• patient registries
• a source of disease-specific care plans and patient information