Enhanced Genetics Services Project (EGSP)

1. Enhanced Genetics Services Project (EGSP) Denise Williams 14th September 2017

2. Enhanced Genetics Services Project • What was it? • Why did we do it? • How did the project work? • The primary care strand • The clinical strand • The educational strand • What were the benefits? • Evaluation

3. Enhanced Genetics Services Project • What was it? • Why did we do it? • How did the project work? • The primary care strand • The clinical strand • The educational strand • What were the benefits? • Evaluation

4. Enhanced Genetics Services Project What was it? • Three year initiative (2009 – 2012) • Improve awareness of and access to genetic services by black and minority ethnic groups in West Midlands • Based within the Clinical Genetics Unit & National Genetics Education and Development Centre at Birmingham Women’s Healthcare NHS Foundation Trust • Funded by HOBtPCT

5. The Team • Project Lead/Consultant Clinical Geneticist: 2 hrs/week • Project Manager: Full-time • Genetic Counsellor: Full-time • Community Educator: Full-time • Clinical Educator in Genetics: Full-time • Administrator: 3 days/week

6. Enhanced Genetics Services Project • What was it? • Why did we do it? • How did the project work? • The primary care strand • The clinical strand • The educational strand • What were the benefits? • Evaluation

7. Enhanced Genetics Services ProjectWhy did we do it? Infant mortality in Birmingham is nearly twice the national average

8. Table 1 - Infant mortality 3 year average for Birmingham and England and Wales 1999-2008 Table 2 - Perinatal mortality 3 year average for Birmingham and England and Wales 1999-2008

9. Infant and Perinatal Mortality – 3 year Average for Birminghamand England & Wales Between 1999-2008.

10. Genetic Disorders significantly contribute towards high infant mortality • Nationally, 2,300 children born with severe AR disorders annually • 30% born to parents of Pakistani origin • Bundey S et al, 1993 • Gustavson KH, 2005

11. Rare Diseases • Mostly genetic • 75% of rare diseases affect children • 30% of rare disease patients die before the age of five

12. Rare is Common • 1 in 17 people have a rare disease • 3 million people • 6,000 different rare diseases • Rare individually but relatively common when considered collectively as category of illness • Rare diseases affect over 30 million people in Europe

13. Rare is Common • Rare diseases are characterised by a broad diversity of disorders • Symptoms vary not only from disease to disease but also from patient to patient suffering from the same disease. • Relatively common symptoms can hide underlying rare diseases, leading to misdiagnosis.

14. Rare Disease Patients Face Common Problems: • Lack of access to correct diagnosis • Delay in diagnosis • Lack of quality information on the disease • Lack of scientific knowledge of the disease • Heavy social consequences for patients • Lack of appropriate quality healthcare • Inequities and difficulties in access to treatment and care

15. Implications of severe AR conditions in HOBtPCT • 2500 births per annum Pakistani community • 260 cases of severe AR conditions per annum • 130 severe chronic disability • 90 deaths within 5 years

16. BME Groups - Birmingham • IMR higher in all BME groups • Birmingham BME communities 29.6%(England 9.1%) • 50% of under 16 year olds from ethnic minorities • Implication - infant deaths due to genetic disorders will increase in next 10 years • Other determinants of health and health inequalities • Focus on genetic causes of IMR

17. Autosomal Recessive Conditions • More common in consanguineous families • Not about consanguinity per se • Previous harmful messages • 8 – 10% of consanguineous couples at high risk • Remaining 90% at population risk • Prevalence of consanguineous marriages 50-70% • 61% of 5 year olds children on SEN register Asian • British Pakistani children 10 times more likely to have inherited metabolic disorder • Most extended families at risk of AR conditions will already have an affected child • Service targeted at those who will benefit

18. Cost Of Rare Diseases • People with rare diseases are estimated to cost the NHS over £1 million annually in each English health region. • Average cost of care packages for severe learning disability (HoB) – £70,000 • EGSP interventions – potential cost saving £2,000,000 (HoB)

19. Enhanced Genetics Services Project • What was it? • Why did we do it? • How did the project work? • The primary care strand • The clinical strand • The educational strand • What were the benefits? • Evaluation

20. Enhanced Genetics Services ProjectHow will the project work? • Three Approaches To Reducing IMR Due To Genetic Conditions • Primary Care Strand • Clinical Strand • Education strand • External evaluation by the Foundation for Genomics and Population Health (Cambridge)

21. Primary Care Strand • Three GP Practices offered a screening programme for inherited blood disorders. • They were involved in raising awareness of other genetic disorders and identified families appropriate for specialist referral.

22. Clinical Strand • Improving Services for Patients • Review of patients and families and recontact to offer improved access to information, clinical services and carrier testing where appropriate. • Development of new molecular tests for a range of genetic disorders.

23. EGSP – The Conditions Conditions which were: • Relatively common • Early treatment improves prognosis • Molecular diagnosis relatively straightforward • 30 new ‘genes’ over 3 years • Nationally funded • Research funded

24. The conditions

25. Pedigree

26. Cascade screening Diagnosis of a genetic disorder has implications for many family members. • Identifying Patients And Families With, Or At Risk, Of Genetic Conditions • Support groups

27. Education Strand • Improving Understanding of Genetics • community education: working closely with the community and families of affected individuals to improve genetic literacy and access to genetics services • professional education: to enhance genetic literacy amongst appropriate health professionals, increasing confidence, enabling them to recognise and refer patients at risk of inherited conditions • production of educational materials: to support the educational activities of the project

28. Community education • Personal i.e. one-to-one → access to expert genetic counselling service • Mosques • Children’s Centre's • Community events e.g. community health fair, forced marriages event, women’s day event, diabetes awareness event, teenage health • Fathers groups in children’s centre's • Media – concern re adverse publicity

29. Health professional education • Undertake education needs assessment • Set up and deliver educational courses for health professionals • Set up and deliver training for identified link workers for cascade training • Act as educational resource for health professionals in clinical practice • Evaluate all educational materials and delivery • Raise awareness about EGSP → increase referrals particularly from primary care

30. Types and numbers of health professionals attending educational sessions during the first year of the education strand

31. Production of educational materials • Three leaflets in English, Urdu, Bengali and Arabic ‘Understanding genetics and inheritance’ ‘Genetics explained for cousins who are blood relatives’ ‘Sharing genetics information with the family’ • DVD in English and Urdu • www.talkinggenetics.co.uk

32. Our intention was to raise awareness of genetics and the genetics services available in the community. Many new developments that could help families at risk of inherited conditions including: Early Diagnosis Early Treatment Carrier testing Prenatal and Pre implantation genetic diagnosis

33. Enhanced Genetics Services Project • What was it? • Why did we do it? • How did the project work? • The primary care strand • The clinical strand • The educational strand • What were the benefits? • Evaluation

34. Enhanced Genetics Services ProjectWhat were the benefits? • Greater understanding of genetic disorders and options available, throughout affected families. • Improvement in the community level of genetic literacy. • An Increase in health professionals’ understanding of genetics. • Reduce costs of health care • Reduce costs to families • Financial burden of disability and disease • Emotional and physical risks to health of whole families • In the long term, a reduction in mortality and morbidity due to genetic disorders in thosecommunities that are most affected.

35. Enhanced Genetics Services Project • Emotive issue, but if dealt with sensitively conveying accurate risks, need not be controversial • No backlash from the community • Initial level of suspicion did not persist, members of the community valued the service

36. www.phgfoundation.org/egsp-report