Transcript genetic conditions in asian families ppt

Blackburn with Darwen CCG
Protected Learning Time Event
18th June 2015
Pendle Suite
Dunkenhalgh Hotel
Welcome
Dr Stephen Gunn
Clinical Lead for Primary Care
Care.Data
Dr Hereward Brown
Clinical Lead for IT and Information
Contact Details:
Jeanette Pearson:
Engagement Lead for the CCG – 07810413402
Helen Sanderson Walker:
Comms Lead for the CCG – 07880476109
Janet King:
NHSE Regional Head of Intelligence – 07876851841
Justine Banks:
HSCIS Project Co-ordinator – 07909093044
Email: [email protected]
Housekeeping:
Agenda
12.30 – 13.20
Registration and lunch
13.20 – 13.30
Welcome and Introduction
Dr Stephen Gunn
13.30 – 15.15
PREVENT Training
Marie Gibbons
15.15 – 15.45
Refreshment Break and Networking Session
15.45 – 16.45
Genetics Outreach Project
16.45
Close
Naz Khan
Prevent and the NHS
• Marie Gibbons
• Regional Prevent Coordinator
• NHS England (North West)
 Gordon Mc Geechan
 Prevent Sergeant Lancashire Constabulary
Blackburn with Darwen
CCG
18th June 2015
Contest
UK Counter Terrorism Strategy
Prevent
Pursue
Protect
Prepare
Section number
8 NHS | Presentation to [XXXX Company] | [Type Date]
Learning Outcomes……….
Making the Link………
• Recognise
• Respond
• Refer
• Report
9 NHS | Presentation to [XXXX Company] | [Type Date]
Beware of assumptions
• There is no single profile of a terrorist – there
is no checklist to measure someone against
• This is not about race, religion or ethnicity we are here to consider the exploitation of
vulnerable people
10 NHS | Presentation to [XXXX Company] | [Type Date]
Prevent in context
• Counter terrorism and security Act February 2015 is
intended to deal with multiple aspects of the terrorist
threat ……….
• Ideology –what happens on social media-work with
social media to remove /counter narratives
• Disrupt /delay travel –intended to protect the vulnerable
• Support individuals at risk of being drawn into
radicalisation
Prevent Objectives………..
• Prevent individuals from being drawn into
terrorism and ensure that they are given
appropriate advice and support;
• Respond to the ideological challenge of terrorism
and the threat from those who promote it;
• Work with a wide range of institutions and
sectors (including social care, health, HE/FE and
faith communities) to address risks of
radicalisation
12 NHS | Presentation to [XXXX Company] | [Type Date]
Prevent Duty 2015
Aim:Ensure common and higher standards across organisations
ensuring that Prevent and Channel processes are effective
3 key themes …………
Leadership –
• Understand risk of radicalisation
• Ensure staff understand & build capability to deal with it
• Communicate and promote the importance of the duty
• Ensure implementation
Prevent duty
Working in partnership
• Effective partnership working
• Demonstrate compliance with the duty
• Demonstrate evidence of productive co-operation
Capabilities
• Understand radicalisation
• Help available and how to access it
• Have appropriate awareness /training
Twin towers
9/11
London Buses
ATTACK
COMMUNITIES
Fundraising
Radicalisation
PLANNING
Recruitment
Vulnerable People within our community
16
Current risks and threats
Blackburn with Darwen ……….
18 NHS | Presentation to [XXXX Company] | [Type Date]
Susceptibilities / Vulnerablities…..?
19 NHS | Presentation to [XXXX Company] | [Type Date]
External
Internal
Foreign Policy
Domestic Policy
Employment
Opportunities
Group Identity
20
Identity
Social Exclusions
Drug/Alcohol
Distrust of Civil society
Low self esteem
Mental Health issues
Religion – lack of
theological resilience
Links to criminality
Changed
situation/circumstances
Bereavement
Rejection
Change in appearance
Media
Propaganda
Internet availability
Extremist/Terrorist
ideology
Peer Pressure
Availability of
travel
Your role………..?
• NHS Key partner
• Identified Prevent Lead / Support network
• Policy and Procedure
• Training & Awareness raising
• Sharing concerns – having a conversation!
Safeguarding is everyone’s business
Procedure for staff to follow………..
• Concern identified
• Share concern with Prevent/Safeguarding Lead (adhere to
internal Prevent policy/procedure)
• Prevent Lead to have conversation with CCG Prevent Lead
• Consider referral to Police Prevent Team for consideration at
Channel Panel
In event of suspicion of imminent or actual harm to
individual(s). Do not hesitate contact the police on 101 or 999
22
In Summary
• Be vigilant
• Who is your prevent lead?
• Share your concerns with a “conversation”
• Use common sense
• Act on your concerns
Thank you
• Marie Gibbons
Regional Prevent Lead (north west) NHS England
Telephone office – 01138 248 938
Mobile – 07896717647
• Gordon McGeechan
Telephone – 01254 353541 / 01772413366
[email protected]
24 NHS | Presentation to [XXXX Company] | [Type Date]
Refreshments
and Networking
Genetic and Social Implications of
Consanguineous Marriage
Naz Khan
June 2015
Objectives of training
• To understand the Genetic and Social implications of
consanguineous marriage
• Presentation of local data on autosomal recessive disorders
• The impact of genetic disorders on infant and childhood
mortality/morbidity locally
• Intervention strategies in East Lancashire
• Feedback on evaluation of the service development post and
lessons learnt
• Develop confidence in initiating discussions about issues
relating to marrying close relatives
• To be able to identify families for referral
• How to make appropriate referrals to the enhanced genetic
service
• Familial cancer in South Asian communities
BWD Population
•
2011 census - BWD: 26.4% south Asian (12.1 Pakistani 13.4 Indian)
•
Growing population - 2001 census 19% South Asian
•
Average UK towns and cities 4.7%
•
•
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27% Muslim in BWD (4.8% average in UK)
63% of Pakistani’s In Blackburn were born in Pakistan
•
25% of deliveries in East Lancashire were to women of Pakistani/Indian
Heritage (based on local figures from ELHT trust 2013/2014
•
BWD 17th most deprived local authority area in the Country (DCLG 2014)
Ref 2011 Census/ONS
Measuring mortality in the early years
• Measures of mortality relating to early life are critical
indicators of the general health of a community
• IMR used by organisations including the WHO
• Included in NHS Outcomes Framework, Health &
Wellbeing Strategies
• Allows comparisons between regions
• Can be used to track improvements over time
Definitions
• Infant Mortality Rate (IMR) is the number
of deaths of infants under one year of age per
1,000 live births.
• e.g. In 2012 there were 2300 live births in BwD
and 10 deaths in infants < 1 year IMR=4.3 per
1000 live births
• Neonatal mortality rate is the number of deaths
of infants under 28 days per 1000 live births
• e.g. In 2012 of the 10 deaths under 1 year in
BwD. 7 were infants < 28 days NMR= 3.0 per
live births
IMR= _10_ x 1000 = 4.3 deaths per 1000 live births
2300
NMR= _7__ x1000= 3.0 deaths per 1000 live births
2300
Infant mortality rates-by country
Source: OECD health data and WHO Global Health Observatory]
Category
Deaths by Category
in BwD
Following the review by
CDOP a category for cause
of death is assigned to each
case.
30/71 (42%) cases were
due to either:
Chromosomal, genetic and
congenital anomalies
26/71 (37%)
Perinatal/neonatal events
6/71 (8%) cases were due
to SUDI
Name & description of category
No of cases
1
Deliberately inflicted injury, abuse or
neglect
*
2
Suicide or deliberate self-inflicted
harm
*
3
Trauma and other external factors
*
4
Malignancy
*
5
Acute medical or surgical condition
*
6
Chronic medical condition
*
7
Chromosomal, genetic and congenital
anomalies
30 (42%)
8
Perinatal/neonatal event
26 (37%)
9
Infection
10
Sudden unexpected, unexplained
death
*
6 (8%)
Blackburn
• Infant Mortality 2013-2014 : 6.5 per
1.000 significantly higher than national
and North West average of 4.3 and 5.0.
• Childhood mortality 2013-2014: 16.6
higher than the national average of 12
Consanguineous marriage
• Consanguineous means of the same blood
• Consanguineous marriage is marriage between blood relatives
• 20% of the worlds population live in communities that favour
consanguineous marriage
• 8.5% of all births are to parents who are consanguineous
• 25% of cousin marriages in the UK are among white
Source: World Health Organization
majority population
1985
Advisory
Group on Hereditary Diseases. Community
approaches to the control of hereditary
diseases.
Unpublished
WHO
document:
HMG/WG/85.10.
Available at:
http://whqlibdoc.who.int/hq/198586/HDP_W
G_
85.10.pdf
Genetics Communication Diversity
Customs governing first cousin marriage
(GP Murdock, Ethnographic Atlas, 1967)
Latitude
Consanguineous marriage
• Customary in many parts of the World Pakistan,
Bangladeshi, Middle East, Some Indian, Irish travellers,
Some Refugee groups.
• Pakistani Heritage have the highest rate of cousin
marriage (at least 55%)
• In BwD, 95% of Asian parents with an affected child
were in a consanguineous marriage
• Integral Cultural and social practice
• Associated with Islam but neither encouraged nor
discouraged by Islam
Reasons why people consider
consanguineous marriage
• Cultural
• Strengthens family ties and support systems; keeping connections
• Ease of finding a more suitable match and having more stable
marriages
• Maintains a woman’s status within the family hierarchy
• Maintains family lineage
• Preserves culture and tradition
• Financial benefits
• Obligation to kin
• Economic / Immigration
Health Issues associated with
Consanguinity
• Increased risk of genetic disorders
• High infant mortality and childhood
morbidity
• Limited engagement with Health Services
• Lack of awareness of inherited disorders
• Stigmatisation
• Communication issues
Cousin marriage and inherited/genetic
disorders
• Does not influence chromosomal abnormalities, sex
linked or dominantly inherited disorders
• Impacts exclusively on recessively inherited disorders
• Populations where partner choice is random A.R
disorders random and scattered
• Communities that practice consanguinity AR disorders
cluster within extended family groups
Genetics
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•
•
•
•
•
•
•
•
Our bodies are made up of millions of cells.
Cells contains genes
2 copies of every single gene
One copy inherited from mother, one copy inherited
from father
30,000 genes
Most people are carriers for a at lease 1-2 recessive
disorders
Carriers healthy
Population risks of being a carrier for some
conditions
Rare recessive disorders
Autosomal recessive disorders
•
•
•
•
•
2-3,000 known autosomal recessive disorders
Phenylketonuria (PKU)
Congenital adrenal hyperplasia
Spinal Muscular atrophy
Many biochemical/metabolic disorders
Unrelated couples: chance of a recessive
disorder
Couple 1st cousins: chance of a recessive
disorder
What to do?
10-15% of consanguineous couples are at risk
85-90% of consanguineous couples are not at
risk
• Discourage consanguineous marriage at the
population level?
• Try to identify and inform those at risk?
Try to identify and inform those at risk?
(A family-centred approach)
• In families transmitting a disorder, an affected child will be born
once around 12+ cousin marriages
• Paediatric and genetic counselling services are aware of all
diagnosed affected children
So,
Start with the affected person
WHO
Draw up an extended family tree
recommen
Offer information to all family members
ded
approach
Offer carrier testing to all members
Aim for married couples & children & young people
Provide information and long-term support
Dr Benson’s Study (2002)
Two Part Study:
• The Range and Prevalence of Recessive
disorders in the Blackburn population.
• Health Perceptions and families response to
Genetic Information
Results of Dr Benson Study
• Incidence of definite recessive disorders in the Asian
population was 12 times that of the incidence in the
white population.
• 83 different recessive disorders diagnosed.
• Where data recorded 95% of Asian parents were
consanguineous.
• 13 recessive disorders per 1000 Asian births
• Several Asian families with 3 or more affected children
Service development Bid
• DOH under the Genetic White paper (2003)
• To improve the clinical service available to South Asian origin who
have children affected by A.R disorders.
• To reach extended family members in consanguineous families so
that they understand their own risk of having affected children and
can make informed reproductive choices including arranging future
marriages within/without the family.
Evaluation
• Of the 72 questionnaires distributed, 46
were completed. The questionnaires were
analyzed using SPSS. Overall the service to
families has been received very positively
Elements of the service valued by users
100
Percentage indicating the element as useful
90
80
70
60
50
40
30
20
10
0
Yes
Information on
the condition
Having
information in
own language
Having a local
contact
97.1
45.2
74.2
Information
Information
provided on how provided on risk
the condition is
to
64.5
Elem ent
77.4
Information on
pre-natal
diagnosis
Information on
risk of extended
family being
51.6
83.9
Multidisciplinary strategy
Regional Genetic service
Genetic services
Clinical
Laboratory
(Cytogenetics, Molecular and Biochemical )
Based at St Mary’s Hospital in
Manchester
(with some clinics in DGHs)
Covers NW region
(population of approx. 5 million)
~250 people in team
Doctors (consultants and Registrars)
Counsellors (MSc Genetics)
Clinical scientists &
Admin
Enhanced Genetic service BwD
Clinical service:
Local, hospital-based (RBH) clinical genetic service established
for families of South Asian heritage who have children affected
with autosomal recessive disorders
Proactive service follow up extended family members
East Lancashire service
Community engagement project:
Working with 3rd sector: Health and Well being
Consortium/Home start to employ a Genetic Outreach worker,
to liaise directly with families and community based health and
support services (BWD and Pendle)
Training Front line Health Professionals
• Understand the genetic and social implications
of consanguineous marriage
• Understand their own role in the community
genetics infrastructure
• Be clear about their professional responsibility
and boundaries
• Be aware of health services that people can be
referred to for further help
• Speak with confidence about issues relating to
marrying close relatives
Role of Genetic Outreach worker
• Identify families in the community who will benefit from
additional support
• Set up open access groups in children centres to make
genetic information accessible to everyone
• Take family histories and explaining AR inheritance
• If families unsure of referral to genetics genetic outreach
worker can work with family in own home
Challenges
• Primary care is route for access to genetics
services
• To develop an approach which is feasible within a
consultation (or 2)
• Screening questions (EMIS)
• To ensure patients / couples have consistent
information
• Which is non-judgemental and will maximise
engagement
Challenges in engaging families
• Family dynamics / non-disclosure of
information
• Concept of genetic counselling
• Large number of potential conditions, each
individually rare
• Attitudes to termination of pregnancy
• Attitudes to consanguinity
Families to consider referring
• Have an affected child – diagnosed/undiagnosed
• Known A.R Genetic disorder in the family
• Several individuals affected- similar clinical
phenotype
• Pregnancies ascertaining family history
• Diagnosis through New-born Screening
• Disability/affected individuals in the family
• Adult who is affected with a condition themselves
• Sibling affected with a AR disorder
Exclusions
• Thalassaemia and sickle cell refer to
thalassemia and sickle cell centre unless
they are a carrier couple
• Eczema, haemachromatosis, Alpha1
antitrypsin, cystic fibrosis carriers.
• Child developmental delay see Paediatircian
first for initial work up
Cancer and South Asian Families
• Cancer not considered genetic
• Families do not reveal family history or
request referral to genetics
• Underrepresented in cancer referrals to the
dept.
• If cancer at young age consider referral to
genetic
• Ask specific questions re family history
Cancer referrals
• Early on-set cancer <50 years
• Breast cancer <50 years refer family history clinic
initial assessment
• Bowel cancer or multiple bowel polyps >10
<50years refer to Genetics
• High grade serous ovarian cancer <60years refer to
genetics
• Unusual cancer at young age <50 years refer to
genetics
• If unsure phone/MANGEN website referral
guidelines
Key Messages
• GPs can identify families at high risk
• Family first point of contact is with the GP
• GP- ask about family health
-Know families
- assessment of the genetic risk in
the family
- refer to RGS or seek advice from RGS
Simplistic messages alienate and confuse
This person
thinks it is wrong
to marry in the
family and is
blaming us
But I know lots of
people who are
married to their
cousins and have
healthy kids
Your child is disabled because you are
married to your cousin
But we
already have
a healthy
child
But I know people
who are not
married to their
cousins whose
children are
disabled
Advances in Technology
• Genetic testing available for an increasing number of
conditions
• Micro array
• Testing through Panels
• Exomes
• Genome England study
• NIPD
• FFDNA
• PGD
Key messages to share and pass on
around genetic inheritance
• Genetics affect us all, the more we understand the issues and
the risks, the more we will be able to make informed choices
Referring Families
Naz Khan Genetic Counsellor
Genetic Medicine
6th Floor
St Mary’s Hospital
Oxford Road
Manchester M13 9WL
Tel: 0161 276 6285 /Fax 0161 276 6145
Email: [email protected]