Presentation is loading. Please wait.

Presentation is loading. Please wait.

Models of care for the implementation of Genomic Medicine UKGTN Commissioning Workshop 22 nd November 2012 Dr Trevor Cole Consultant and Honorary Reader.

Similar presentations


Presentation on theme: "Models of care for the implementation of Genomic Medicine UKGTN Commissioning Workshop 22 nd November 2012 Dr Trevor Cole Consultant and Honorary Reader."— Presentation transcript:

1 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

2

3 Sub-committees to identify educational needs Equitable delivery of high quality integrated pathways NHS ill- prepared

4 Patient management Family management Molecular test

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

6 Patient management Family management Molecular test

7 What are we trying to achieve?

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

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

10 Access: success and failure

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

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

13 Making the Diagnosis of Marfan Syndrome ClinicalMolecular ForAgainstForAgainst Its cheap In comfort zone Still some benefit even if wrong aortopathy I just saved £500! Not made a definite diagnosis Not recognised correct aortopathy Life long follow up at risk Precise diagnosis Identify at risk relatives, or exclude. Personalised medicine Additional up- front expense If wrong gene money down the drain! No relatives in my area Worried about consent and sharing confidential information

14 How to encourage most appropriate diagnostic process :– make it part of a required pathway Homocysteinuria – urine adequate only if no other management issues 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” 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 Rare aortopathy – do I need to be aware of these alternative diagnoses and management issues

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

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

17 For “each patient” MDT discussion or agreed protocols to consider appropriate :- Diagnosis (What do I need to achieve 2 &3) Diagnosis (What do I need to achieve 2 &3) Management Management Genetic Cascade 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) “premium for care” in “quality assured pathways” to cover initial expenses but to ensure downstream benefits (central to UKGTN gene dossiers – link from NLMC)

18 Engagement of Public and Professionals (Requirement of the quality assured pathway) HGSG – importance of engagement and education HGSG – importance of engagement and education GMC – medical school requirement GMC – medical school requirement Royal Colleges and NMC – JCMG report Royal Colleges and NMC – JCMG report HEE – ensure part of the “CPD curriculum” for LETB’s – remove the “unknown unknowns” 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 Member of NCB with remit to genomics and promotion of education across the NHS Commissioners only support “QAP” Commissioners only support “QAP”

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

20 More consistency of consent More consistency of consent process More consistency of consent process Increased awareness of equivocal results and interpretation Increased awareness of equivocal results and interpretation Greater support for interpretation of equivocal results Greater support for interpretation of equivocal results Greater emphasis on sharing information for knowledge and family management as norm rather than exception or retrospective Greater emphasis on sharing information for knowledge and family management as norm rather than exception or retrospective

21 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. Rare is common – 3 million people in England have a rare disorder. 80% genetic 80% genetic Many multisystem Many multisystem But many Common enough to be managed in many centres (1 versus >1 per “sector”) 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 Need a lot of local support and input – horizontal integrated care with IT systems to share relevant data and protocol management

22 Inherited cardiac disease Led by clinical genetics Cancer geneticsLed by clinical genetics with pathways integrated into primary and secondary care NeurogeneticsProvided 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 diabetesLed by diabetology with network of specialist nurses

23 Extended family engagement where appropriate Inherited cardiac diseaseLed by clinical genetics Cancer geneticsLed by clinical genetics with pathways integrated into primary and secondary care NeurogeneticsProvided from within neurology Endocrine Genetics ServiceLed by endocrinology with integrated clinical genetics Familial HypercholesterolaemiaStructured multidisciplinary pathway led by lipid clinic clinicians with family cascade service hosted by regional genetics service Single gene diabetesLed by diabetology with network of specialist nurses

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

25 Geleophysic – Acromicric Dysplasia Need to overcome - “Who pays for the test?” Geleophysic – AR due to mutations in ADAMTLS2 gene Geleophysic – AR due to mutations in ADAMTLS2 gene Geleophysic/Acromicric – AD due to mutations in the fibrillin gene Geleophysic/Acromicric – AD due to mutations in the fibrillin gene Prognosis differs across spectrum Prognosis differs across spectrum Fibrillin mutation disorders show evidence of response to anti TGF therapy Fibrillin mutation disorders show evidence of response to anti TGF therapy Recurrence risk 1 in 2, 1 in 4 or very low Recurrence risk 1 in 2, 1 in 4 or very low

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

27 Joint MTC at QEH 19 apparently sporadic MTC presenting to QEH over 2 years A mutation was identified in 3/19 (15.8%) V804M heterozygous43y male V804M homozygous54y female C618S heterozygous30y female Subsequent cascade testing in at risk family members → 18 predictive genetic tests → 13 positive → 11 prophylactic thyroidectomies → 18 predictive genetic tests → 13 positive → 11 prophylactic thyroidectomies

28 Joint MTC at QEH Histology at prophylactic surgery Non neoplastic CCH1 Borderline CCH1 CCH3 MTC5 Await histology1 MTC identified in 5 /11 (~45.5%) at prophylactic surgery C618S familyV804M families 53y female65y female 40y female 36y female 29y female MTC identified in 5 /11 (~45.5%) at prophylactic surgery C618S familyV804M families 53y female65y female 40y female 36y female 29y female

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

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

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

32


Download ppt "Models of care for the implementation of Genomic Medicine UKGTN Commissioning Workshop 22 nd November 2012 Dr Trevor Cole Consultant and Honorary Reader."

Similar presentations


Ads by Google