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Dr Trevor Cole Consultant and Honorary Reader in Clinical and Cancer Genetics

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 Trevor.cole@bwhct.nhs.uk. NHS

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Dr Trevor Cole Consultant and Honorary Reader in Clinical and Cancer Genetics

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  1. Models of care for the implementation of Genomic MedicineUKGTN Commissioning Workshop22nd November 2012 Dr Trevor Cole Consultant and Honorary Reader in Clinical and Cancer Genetics West Midlands Regional Genetics Service Birmingham Womens Hospital Trevor.cole@bwhct.nhs.uk

  2. NHS ill- prepared Sub-committees to identify educational needs www.geneticseducation.nhs.uk Equitable delivery of high quality integrated pathways

  3. Molecular test Family management Patient management

  4. Management could mean :- • Diagnosis • Patient Treatment (personalised medicine) • Pre-symptomatic testing • Surveillance Maximise to obtain most clinical benefit and utility

  5. Molecular test Family management Patient management

  6. What are we trying to achieve?

  7. What are we trying to achieve?Optimisation of each of the Steps

  8. What are we trying to achieve?Optimisation of each of the Steps and Extended family engagement where appropriate

  9. Access: success and failure

  10. Access success – simple!! (If only) • Educated and engaged public • More aware profession and easier access to pathways (know when to refer) • Commissioning process that encourages early intervention for the “well” – primary and secondary care

  11. Illustration of Diagnostic Process Deliberations and Consequences :- Is it? • Marfan syndrome • Rare aortopathy • Homocysteinuria

  12. Making the Diagnosis of Marfan Syndrome

  13. How to encourage most appropriate diagnostic process :– make it part of a required pathway • Homocysteinuria – urine adequate only if no other management issues • Marfans – is a clinical diagnosis adequate to answer “all the other medical issues” to the benefit of “the whole NHS” • Rare aortopathy – do I need to be aware of these alternative diagnoses and management issues

  14. Use SCN and NHSCB through CRG to :- • Promote commissioning of MDT working • Optimise pathway • Support most appropriate clinical involvement (egMarfans – expert cardiology, cardiothoracic surgeons, ophthalmology, clinical geneticists, nurse specialist/ genetic counsellors, orthopaedics, physiotherapy etc)

  15. What are we trying to achieve?Optimisation of each of the Steps and Extended family engagement where appropriate

  16. 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)

  17. 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”

  18. Encourage engagement of Pharma and Biotechnology • Smaller number of collaborators for more patients enrolled • More consistent cohorts • More consistent evaluations • More cost effective research

  19. 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

  20. 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 multisystem But 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

  21. Extended family engagement where appropriate

  22. Alcohol Drugs Viral Non Geneitc HOCM, Fabry Disease DMD Haemochromatosis Genetic Smoking Obesity Cholesterol Diabetes Hypertension Drugs Metabolic Obesity (Leptin) Cholesterol (FH) Diabetes (MODY) Hypertension (GRBP) LQT / Channelopathies Metabolic Myotonic Dystrophy Age Hypertension Smoking Marfans Ehlers Danlos Non Syndromic familial aortopathies

  23. 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

  24. Multiple Endocrine Neoplasia type 2 (MEN 2) • MEN 2A MTC Phaeochromocytoma Hyperparathyroidism • MEN 2B MTC Phaeochromocytoma Marfanoid habitus Mucosal neuroma Ganglioneuromatosis gut • Familial MTC ≥4 MTC No phaeochromocytoma No hyperparathyroidism

  25. Joint MTC at QEH 19 apparently sporadic MTC presenting to QEH over 2 years A mutation was identified in 3/19 (15.8%) V804M heterozygous 43y male V804M homozygous 54y female C618S heterozygous 30y female Subsequent cascade testing in at risk family members • → 18 predictive genetic tests → 13 positive→ 11 prophylactic thyroidectomies

  26. Joint MTC at QEH • MTC identified in 5 /11 (~45.5%) at prophylactic surgeryC618S familyV804M families53y female 65y female 40y female36y female29y female

  27. Indications for using DNA testing :-genetic management • Cascade screening • Prevention of unnecessary intervention • Appropriate surveillance for at risk individuals • Is presymptomatic diagnosis and intervention going to change the outcome? • Does knowing the genetic basis change the management – (Germline) Warfarin dosage, PARP inhibitors, PTC124. (Somatic - oncology) Herceptin, Gleevac and Iressa

  28. Renal Failure Heart Disease Hypertension Osteoporosis Diabetes Melitus Most Types of Cancer All can be single gene or multifactorial All amenable to intervention Surveillance is often very simple Genetic testing maybe difficult and expensive Taking a family history is very easy and cheap! Some genetic testing is very beneficial Common Disease with a Major Genetic Component

  29. Indications for genetic testingor (How to persuade your commissioners!) • Diagnosis (avoidance of unnecessary investigations) • Management (most appropriate follow up and treatment) • Genetic follow up (identification of gene carriers and exclusion of population risk follow up) • Ensure you get the maximum clinical utility from you test (a no brainer???)

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