A Proposal for A National Ciliopathy Diagnosis and

Management Service Dr Richard ScottProf Phil Beales

Great Ormond Street Hospital for Children

BackgroundThere 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.

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

Ciliopathy Patient Management System - Certus

Ciliopathy Patient Management System - Certus

Ciliopathy Patient Management System - Certus

Ciliopathy Patient Management System - Certus

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)

A ‘tiered’ structure of care in the new service• Tier 1

oGenetic diagnostic service only

• Tier 2oGenetic diagnostic service and disease-specific care plans

• Tier 3oGenetic diagnostic service and assessment at central MDToPredominantly local follow-up and patient-tailored care plan from MDT

• Tier 4oGenetic diagnostic service and assessment at central MDToOngoing follow-up at central MDT and patient-tailored care plant from MDT

A ‘tiered’ structure of care in the new service• Tier 1

oGenetic diagnostic service only

• Tier 2oGenetic diagnostic service and disease-specific care plans

• Tier 3oGenetic diagnostic service and assessment at central MDToPredominantly local follow-up and patient-tailored care plant from MDT

• Tier 4oGenetic diagnostic service and assessment at central MDToOngoing follow-up at central MDT and patient-tailored care plant from MDT

Local care only

A ‘tiered’ structure of care in the new service• Tier 1

oGenetic diagnostic service only

• Tier 2oGenetic diagnostic service and disease-specific care plans

• Tier 3oGenetic diagnostic service and assessment at central MDToPredominantly local follow-up and patient-tailored care plant from MDT

• Tier 4oGenetic diagnostic service and assessment at central MDToOngoing follow-up at central MDT and patient-tailored care plant from MDT

Attend central MDT

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

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

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

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

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