Prof Phil Beales of the Institute of Child Health presents the proposed new national NHS service for ciliopathies

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.

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

6. Ciliopathy Patient Management System - Certus

7. Ciliopathy Patient Management System - Certus

8. Ciliopathy Patient Management System - Certus

9. Ciliopathy Patient Management System - Certus

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

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

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