East Lancashire and Oldham Community Genetics’ Service- Who we are Naz Khan Principle Genetic Counsellor MANGEN Service lead for CGT Community Genetics Team Wahida Pervaiz Anne Edington Aashiya Patel Arjmund Zaheer Commissioned by ELCCG, BwD Public Health , Oldham Public Health and Oldham CCG.

The Community Genetics Team Northwest England not too far from Manchester. We cover the 7 boroughs of Bb East Lancashire and Oldham. The main boroughs ofBB Pendle Hyndburn Burnley and Oldham were chosen as target areas for our initial project as they have the highest levels of infant mortality and long term disability due to genetic conditions.

Community genetics service objectives Provide advice and support to families affected with genetic conditions who are blood related mainly in S.A com affected with recessive conditions. Help families understand genetic advice so they are better informed for future decisions. Provide cascade screening within the extended family. Overall to reduce infant mortality and morbidity rates and inform families of options available to them WE KNOW THAT RESEARCH HAS SHOWN THAT EAST LANCS AND OLDHAM AREA OVER LAST 20 YEARS HAS HAD A HIGH INFANT MORTALITY AND MORBIDITY RATE AND ONE OF THE FACTORS WHICH HAS CONTRIBUTED TO THAT IS THE RECESSIVE CONDITIONS. Raise awareness of service by integrating genetic education into mainstream health, education and statutory services Working with health professionals/community and voluntary groups inc Children’s Centre's/CDCs - Community paediatrics to identify and refer families to Genetics

CONSANGUINITY Consanguinity means of the same blood and it is marriage between blood relatives, ie, cousin marriage 20% of the worlds population live in communities that favour consanguineous marriage E.G Pakistan, Bangladesh, Middle East, some Indian, Irish Travellers, some Refugee Groups. Why- social/tradition/caste 25% of cousin marriages in the UK are among white majority population 85-90% of cousin marriages go on to have healthy children. However 10-15% of consanguineous couples are at risk of having an affected child SETTLEMENT OF FAMILIES FROM TRADITIONAL VILLAGE BACKGROUNDS

Recessive inheritance In each pregnancy there is a 25% chance of an affected child when parents are both carriers of the same faulty gene In each pregnancy there is a 50% chance that a child will be a carrier of the same faulty gene and parents will not be affected COUPLES ARE HEALTHY CARRIERS – MISCONCEPTIONS WITHOUT THIS INFO FAMILIES STRUGGLE TO UNDERSTAND: RECURRENCE RISK – 2 OR 3 CHILDREN AFFECTED WITH SAME CONDITIONS – NEWFIELD care of these children runs into the 1000s so that lack of understanding has a knock on effect on statutory services like health, education and social care. IMPLICATIONS FOR EXTENDED FAMILY – CARRIER TESTS OPTIONS AVAILABLE IN FUTURE PREGNANCIES misconceptions

Testing for Genetic Conditions Who knows about genetics? All families are offered screening for their babies on day 5 of life. Heel prick. Blood spot tests for 9 treatable genetic conditions. Includes some you may have heard of – sickle cell (black african / afro-carribbean) thalassaemia East Mediteranean / West Asia / South East Asia Cystic Fibrosis (1 in 25 White British) All of these are called recessive disorders – before showing how recessive conditions come about useful to look at what genes are all about

HOW DO WE HELP FAMILIES WITH GENETIC CONDITIONS Help families to obtain a diagnosis, understand and benefit from screening tests for the immediate and extended family Offer advice and support to families with genetic conditions when either a child or a parent is affected. This can be done at home when possible or at local hospital clinics. We work closely with other support services which can assist families with a condition. For those with rare conditions and no diagnosis there is a chance to participate in studies such as the 100,000 Genome project which can sometimes identify the gene which has caused the disorder. HOME VISIT – GATHER INFO ON CONDITION/SYMPTOMS, DRAW FAMILY TREES, EXPLAIN RECESSIVE INHERITANCESupport around diagnosis: information sharing Presence on NICU Supporting families through their journey of genetic referral Home visits to explain reason for referral/taking family history/pedigree Upskilling genetic awareness in the nuclear and extended family Reinforcing reasons for early referral in subsequent pregnancies

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