2. 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.

3. 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.

5. 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

6. 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

8. 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

9. 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

10. 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

11. Example of

12. Anne to describe

13. EB