Sudden death and inherited heart disease: a national plan. Dr Paul Brennan Lead Consultant in Cardiac Genetics Northern Genetics Service, UK

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1 Sudden death and inherited heart disease: a national plan Dr Paul Brennan Lead Consultant in Cardiac Genetics Northern Genetics Service, UK

2 Coronary Heart Disease National Service Framework Chapter Eight : Arrhythmias and Sudden Cardiac Death Quality requirement three: Sudden Cardiac Death When sudden cardiac death occurs, NHS services have systems in place to identify family members at risk and provide personally tailored, sensitive and expert support, diagnosis, treatment, information and advice to close relatives. Markers of good practice Evaluation of families who may have inherited cardiac disease takes place in a dedicated clinic, with staff who are trained in diagnosis, management and support for these families. Genetic counselling and further testing is available if appropriate.

3 Coronary Heart Disease National Service Framework Chapter Eight : Arrhythmias and Sudden Cardiac Death Quality requirement three: Sudden Cardiac Death When sudden cardiac death occurs, NHS services have systems in place to identify family members at risk and provide personally tailored, sensitive and expert support, diagnosis, treatment, information and advice to close relatives. Markers of good practice Evaluation of families who may have inherited cardiac disease takes place in a dedicated clinic, with staff who are trained in diagnosis, management and support for these families. Genetic counselling and further testing is available if appropriate.

4 Scale of the problem 1: sudden cardiac death 100,000 SCD per year in UK: mostly coronary HD 5-10,000 genetic HD diagnoses 400 unexplained SCD : most are genetic HD Most of these affect young adults and teenagers Up to 50% of their relatives are at risk of SCD

5 Scale of the problem 2: inherited diseases affecting the heart minimum estimated prevalence % genetic Hypertrophic cardiomyopathy 1 in 500 >50% Dilated cardiomyopathy 1 in % Long QT syndrome 1 in % Arrythmogenic right ventricular cardiomyopathy Familial hypercholesterolaemia 1 in in % 100% Marfan syndrome 1 in in % at least 1 in 250 people; over a quarter of a million in UK

6 Scale of the problem 3: stakeholders (cooks and broth)

7 Scale of the problem 3: stakeholders (cooks and broth) DoH core SCD/ICC delivery group DoH virtual SCD/ICC delivery group DoH coroners & pathologists working group PHGF cardiac genetics services working group BHF cardiac genetics expert panel BHF cardiac genetics nurse pilot Cardiac networks Support groups etc

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10 Cardiac disease with likely hereditary basis Death explained by cardiac disease with likely hereditary basis Death unexplained Clinical screening in first degree relatives Genetic screening in an affected relative Immediate DNA storage

11 How? Death unexplained Coroner Pathologist GP SCD coordinator Clinical screening in first degree relatives Rapid Comprehensive Complete Expert Genetic screening in an affected relative National centres Immediate DNA storage Consent HTA

12 Relatively rare event Nationally coordinated SCD service Relatively small number of expert hub centres Good links with spoke units and genetics services

13 Cardiac disease with likely hereditary basis Death explained by cardiac disease with likely hereditary basis Referral guidelines Clinical screening in first degree relatives Rapid Comprehensive Complete Expert Genetic screening in an affected relative National centres? National guidelines Genetics in mainstream practice

14 Inherited disease Genetics Mainstream medicine

15 Inherited disease Genetics Mainstream medicine Genetics Mainstream medicine Collaborative working Understand each others roles but keep them separate Care pathways

16 Inherited disease Genetics Mainstream medicine Genetics Mainstream medicine Genetics Mainstream medicine Genetics skills integrated in mainstream practice Networking Appropriate use of skills and knowledge of limitations

17 Genetics National centres Local units Roles and definitions Discrete responsibilities Shared responsibilities

18 Genetics competences for mainstream medicine

19 Genetics competences for mainstream medicine 1. Identify where genetics is relevant in your area of practice 2. Identify individuals with or at risk of genetic conditions 3. Gather multigenerational family history information 4. Use multigenerational family history information to draw a pedigree 5. Recognise a mode of inheritance in a family

20 Genetics competences for mainstream medicine 6. Assess genetic risk 7. Refer individuals to specialist sources of assistance in meeting their health care needs (CHS151) 8. Order a genetic laboratory test 9. Communicate genetic information to individuals, families and other healthcare staff

21 Genetics competences for mainstream medicine Genetic counsellor BHF cardiac genetics nurse Consultant in clinical genetics BHF heart failure nurse Expert cardiologist Arryhthmia coordinator Consultant cardiologist

22 Relatively common event Requires locally integrated services Access to expert hub centres if none exists locally Clear communication

23 Sudden death and inherited heart disease: a national plan This is complicated SCD model may lend itself better to national coordinated service across a number of expert centres. ICC model can t be done like this; instead, networks need to define their own services, based around collaborative relationships between cardiology and genetics. National standards have an important role to play.

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