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

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

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

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

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

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

Enhanced Genetics Services Project Why did we do it? Infant mortality in Birmingham is nearly twice the national average

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

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

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

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

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

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.

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

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

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

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

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)

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

Enhanced Genetics Services Project How 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)

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.

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.

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

The conditions

Pedigree

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

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

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

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

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

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

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

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

Enhanced Genetics Services Project What 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 those communities that are most affected.

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

www.phgfoundation.org/egsp-report