Models of care for the implementation of Genomic Medicine UKGTN Commissioning Workshop 22 nd November 2012 Dr Trevor Cole Consultant and Honorary Reader in Clinical and Cancer Genetics West Midlands Regional Genetics Service Birmingham Womens Hospital [email protected]
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Models of care for the implementation of Genomic Medicine UKGTN Commissioning Workshop 22 nd November 2012
Models of care for the implementation of Genomic Medicine UKGTN Commissioning Workshop 22 nd November 2012. Dr Trevor Cole Consultant and Honorary Reader in Clinical and Cancer Genetics West Midlands Regional Genetics Service Birmingham Womens Hospital [email protected]. NHS - PowerPoint PPT Presentation
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Models of care for the implementation of Genomic Medicine
UKGTN Commissioning Workshop
22nd November 2012
Dr Trevor ColeConsultant and Honorary Reader in
Clinical and Cancer GeneticsWest Midlands Regional Genetics
What are we trying to achieve?Optimisation of each of the Steps and
Patient access
• Equal access
Diagnostic process
• How• Who• Consent
Personalised medicine
• Education of NHS
• Data collection
• Engagement with pharma and biotech
Extended family engagement where appropriate
For “each patient” MDT discussion or agreed protocols to consider appropriate :-
• Diagnosis (What do I need to achieve 2 &3)
• Management• Genetic Cascade
• “premium for care” in “quality assured pathways” to cover initial expenses but to ensure downstream benefits (central to UKGTN gene dossiers – link from NLMC)
Engagement of Public and Professionals(Requirement of the quality assured
pathway)• HGSG – importance of engagement and
education • GMC – medical school requirement• Royal Colleges and NMC – JCMG report• HEE – ensure part of the “CPD curriculum”
for LETB’s – remove the “unknown unknowns”
• Member of NCB with remit to genomics and promotion of education across the NHS
• Commissioners only support “QAP”
Encourage engagement of Pharma and Biotechnology
• Smaller number of collaborators for more patients enrolled
• More consistent cohorts
• More consistent evaluations
• More cost effective research
More consistency of consent
• More consistency of consent process• Increased awareness of equivocal results
and interpretation• Greater support for interpretation of
equivocal results• Greater emphasis on sharing information
for knowledge and family management as norm rather than exception or retrospective
Should not be “a charter for ivory towers” practice : Criteria should be QAP delivery
• Rare is common – 3 million people in England have a rare disorder.
• 80% genetic • Many multisystemBut many • Common enough to be managed in many
centres (1 versus >1 per “sector”)• Need a lot of local support and input –
horizontal integrated care with IT systems to share relevant data and protocol management
Inherited cardiacdisease
Led by clinical genetics
Cancer genetics Led by clinical genetics with pathways integrated into primary and secondary care
Neurogenetics Provided from within neurology
Endocrine geneticsService
Led by endocrinology with integrated clinical genetics
Familialhypercholesterolaemia
Structured multidisciplinary pathway led by lipid clinic clinicians with family cascade service hosted by regional genetics service
Single gene diabetes Led by diabetology with network of specialist nurses
Patient access
• Equal access
Diagnostic process
• How• Who• Consent
Personalised medicine• Education of NHS
• Engagement with pharma and biotech
Extended family engagement where appropriate
Inherited cardiac disease Led by clinical genetics
Cancer genetics Led by clinical genetics with pathways integrated into primary and secondary care
Neurogenetics Provided from within neurology
Endocrine Genetics Service Led by endocrinology with integrated clinical genetics
Familial Hypercholesterolaemia Structured multidisciplinary pathway led by lipid clinic clinicians with family cascade service hosted by regional genetics service
Single gene diabetes Led by diabetology with network of specialist nurses
Unexplained cardiac collapse
Cardio-myopathy
Myocardial infarct
Aortopathy
Conduction disorder
SmokingObesity
CholesterolDiabetes
Hypertension
Obesity (Leptin)Cholesterol (FH)
Diabetes (MODY)
Hypertension (GRBP)
DrugsMetabolic
AlcoholDrugsViral
AgeHypertensio
nSmoking
MarfansEhlers Danlos
Non Syndromic familial
aortopathies
HOCM, Fabry Disease
DMDHaemochromato
sis
LQT / Channelopathies
MetabolicMyotonic Dystrophy
Non Geneitc
Genetic
Geleophysic – Acromicric DysplasiaNeed to overcome - “Who pays for the
test?”• Geleophysic – AR due to mutations in
ADAMTLS2 gene• Geleophysic/Acromicric – AD due to
mutations in the fibrillin gene• Prognosis differs across spectrum• Fibrillin mutation disorders show
evidence of response to anti TGF therapy
• Recurrence risk 1 in 2, 1 in 4 or very low
Multiple Endocrine Neoplasia type 2 (MEN 2)• MEN 2A MTC
PhaeochromocytomaHyperparathyroidism
• MEN 2B MTCPhaeochromocytomaMarfanoid habitusMucosal neuromaGanglioneuromatosis gut
• Familial MTC ≥4 MTC No phaeochromocytoma No hyperparathyroidism
Joint MTC at QEH
19 apparently sporadic MTC presenting to QEH over 2 years A mutation was identified in 3/19 (15.8%)