HoB tPCT PEC
November 2008 - Enclosure 7
HEART OF BIRMINGHAM TEACHING PRIMARY CARE TRUST
SUMMARY OF REPORT TO THE PROFESSIONAL EXECUTIVE COMMITTEE
SUBJECT:
REPORT BY:
AUTHOR:
A targeted approach to reducing infant mortality and disability due to
recessive genetic disorders in the Pakistani Community. Provision of a
complete package from primary to secondary care.
Jacky Chambers, Annette Williamson, Tom Fowler
KEY ISSUES FOR COMMITTEE CONSIDERATION AND DECISION:
A concern for the PCT is the higher rate of genetic disorders leading to excess infant death
and disability in families of Pakistani origin. Previous attempts to address this have been
largely unsuccessful. A new model (estimated efficacy: 50% reduction of death/ disability
over a 10 year period) is proposed which identifies affected families and through them
extended families at risk and provides information on individual genetic risk information.
IMPLICATIONS: ()
Financial:

Human Resources:
Healthcare:

National Policy/
Legislation:
Annual Health Check:
Local Delivery Plan:
Diversity Impact:
Patient and Public
Involvement/Consultation:
Other:
RECOMMENDATIONS:
 Funding for the research project to develop appropriate and validated tools for
communicating genetic risk to high risk families of Pakistani origin is supported
 Funding for improving genetic literacy in the British Pakistani community through
opportunistic screening of Thalassemia, based in GP practices is supported
 Funding for extending current genetics services to create an at risk register of
families and to undertake carrier testing to provide individualised genetic risk is
supported
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Heart of Birmingham Teaching Primary Care Trust
Report to the PEC
Subject: A targeted approach to reducing infant mortality and disability due to rare genetic recessive
disorders in the Pakistani Community
th
Date:
17 October 2008
Author:
Jacky Chambers, Annette Williamson, Tom Fowler
Background
Genetic causes of infant mortality and congenital disorders have been a cause for concern in the
West Midlands for many years. A key area is the substantially increased prevalence of problems in
the Pakistani community (Table1), particularly those in consanguineous marriages. Nationally, of
the estimated 2,300 children born annually with severe recessive disorder at least 690 (30%) are
born to parents of Pakistani origin. About a third of the affected children die before five years of
age. Most of the survivors suffer chronic disability, and are cared for by community or specialist
paediatric services.
Table 1 Early Neonatal Deaths (END) (i.e. death in first week of life) due to Congenital
Abnormality and other cases by Ethnicity (HOBtPCT)
Average Annual (20022004)
No New Births
Total no of END due to all
causes
No of END due to
Congenital anomaly
Total excess no of END
due to all causes (c/f
European rate)
Excess no of END due to
Congenital anomaly (c/f
European rate)
European
Indian
Pak/Ban
Bca/Baf
Other
Total
717
1.3
469
2.3
2535
19.6
495
9.0
594
4.0
4810
41.0
0.3
0.7
10.3
1.3
1.0
13.7
-
1.5
10.5
8.1
2.9
32.1
-
0.4
9.2
1.1
0.7
11.4
Attempts to address this issue locally, has been hampered by the lack of an overarching strategic
approach incorporating primary care and specialised services, appropriate materials with which to
improve genetic literacy and explain risk (both to those at highest risk and to health care
professionals) and fully resourced and integrated genetic services to provide specialised support.
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Key Facts: The Problem

Previous work in the Birmingham area (Birmingham Birth Study) suggests the prevalence of
congenital and genetic disorders is 4.3% in North European children and 7.9% among British
Pakistani children (almost double). This difference in risk is almost entirely due to greater
prevalence of recessive-inherited disorders.

Couples at risk for recessive disorders (i.e. both carriers) have a 1-in-4 risk of an affected child
in each pregnancy, meaning 8-10% of consanguineous couples are at high (1 in 4) risk, while
the remaining 90% are at general population risk.

61% of 5 year old children on SEN register in Birmingham are of Asian origin.

British Pakistani children in Birmingham are 10 times more likely to have an inherited
metabolic disorder than North European children. Collectively they are more prevalent than
Down syndrome in the West Midlands.

Local surveys suggest the prevalence of consanguineous marriages in mothers giving birth
from the Pakistani community currently is around 50-70%.
Rational for Multidisciplinary Strategy

Only certain families are at risk above the general population level but these are at very high
risk and it is most appropriate to target them

Due to the historic patterns of marriage within these extended families (Biraderis) there is an
increased risk in all consanguineous marriages, not just 1st cousin marriages. Interventions
must address the whole extended family otherwise it is likely that people who marry within
their Biraderis but not their immediate cousins can still be at substantially elevated risk.

Evidence suggests that individuals do respond to information on individual genetic risk (if
possible carrier status) and this does change behaviour (e.g. average number of pregnancies is
reduced to 2 healthy children). Individuals do not respond to population risk.

Most British Pakistani families where the problem is present will have had an affected child
within the UK extended family. This allows
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
The identification of families whom it would be appropriate to target

The ability to access the extended family through the immediate family of the affected child
who, evidence shows, will often act as a champion to encourage uptake of genetic services and
change of behaviour.
Impact of the proposed Multidisciplinary strategy
Table 2 illustrates the estimated impact of the multidisciplinary approach. It is estimated this
approach will lead to a 50% reduction over a 10 year period in infant death/disability that is
attributable to rare recessive genetic disorders.
The approximate average cost per annum of care packages for Severe Learning Disability is
£70,000. These are ongoing cost, suggesting the intervention is likely to be Cost Saving in the longterm due to its impact on Severe Learning Disabilities alone (potential annual saving £2,000,000).
Additional benefit:
Increased genetic literacy of healthcare professionals will likely lead to greater utilisation and more
appropriate referral to services of all individuals (Pakistani origin and other) for recessive single
gene disorders and other genetic counselling services (e.g. familial cancer).
Key Facts: Cultural Sensitivity
Recent qualitative work in British Pakistani community residents of Springfield ward
(Understanding Inter-Generational Attitudes towards Consanguineous Marriages in Birmingham),
commissioned by the Health and Well Being Partnership, strongly suggests that the model of
identifying families through affected children is likely to be most effective. Findings included:

Considerable lay confusion regarding the role of genetics in inherited diseases.

A general belief that still births and disabilities are not significantly higher among the
British Pakistani community compared to other ethnic groups and a suspicion of contrary
evidence.
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Table 2 Expected rates and costs of infant death and disability due to consanguineous
marriages in HOBtPCT
Outcome
British Pakistani Births
Yearly Rate per 1000 Births
0.21
Yearly reduction
in affected
children due to
intervention
(assuming 50%
efficacy)
0.1
5.9
12.1
6.1
7.5
4.8
9.8
4.9
49.9
41.3
27.3
56.0
28.0
15.8
15.8
0
0.0
0.0
105.5
77.1
38.1
78.1
39.1
Total
Genetic abortion 4
4
Excess
attributable to
consanguineous
marriage
0.1
Death 1st month
21.9
8.5
Death 1 month5yrs
Severe Chronic
Disability
Corrected
congenital
malformations
Total
13.9

Attributable
to Congenital/
Genetic
Yearly
Number
attributable to
consanguineous marriages
Strong value placed on the benefits of arranged marriages, including consanguineous
marriages, alongside feelings that the debate around the issue represents a cultural attack.

A perceived need and enthusiasm for more information regarding genetic risk in a format
that is culturally sensitive and does not pathologies cousin marriages
Any programme focusing on improving genetic literacy and providing specific information on
genetic risk targeted at those families identified as being at high risk is likely to avoid the backlash
that may occur by solely addressing the issue of cousin marriages at the community level.
Research Proposal
Currently a well validated bilingual communication tool does not exist. As a lead member of a
collaboration with Bradford and Kirklees PCTs it is proposed that HoBtPCT commission from
leading experts in the field such a tool (Dr Daar, Honorary Senior Research Fellow, Institute for
Health Research Bradford Hospitals Trust and Professor Modell, Professors Emeritus of
Community Genetics, UCL). On completion this will enable the delivery via the web of:

a method for health professionals to accurately inform families of their genetic risk,
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
a method for familes to convey this inforamation to relatives who may also be at risk

a system to aid in the empowering of families to make informed choices
Access to a paper based version as part of the piloting and development of the tool will also allow
instant application of the expertise in this area to HobtPCT residents.
Next Steps and Action Points
The resident population of HobtPCT is one of the most affected by the issue in the UK.
By funding the research propopsal in conjuction with Braford and Kirklees PCTs it can be both the
National Lead and provide the tools to address the problem locally.
Total Cost: £80,000
However provision and development of the tools alone will not be enough to significantly address
the problem.
The following multidisplinary strategy is recommended
1.Indentifying affected families through improving Current Specialised Services
The technology to identify rare resessive geneotypes has greatly improved over the last 5 years (e.g.
provision of mutation analysis). Information on specific genetic risk has a greater impact on
behaviour change. The WMRGS Molecular Genetics Laboratory (the largest genetics laborotory in
Europe) represent key local resources that can be accessed to provide these services.
It is recomended that an at risk register of families is created and that where possible specific
genetic risk information alongside genetic couselling support is provided to these families.
Quick wins
It is recommended that families previously known to genetics services are recontacted and offered
the improved services. Funding would also cover additional families identified through other
outreach work (see below)
Long term sustainability
It is recomended that parrrellel to this a more sustainable system of identification of affected
families which will involve building links with relevent health care professionals, particularly GPs
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and Peadiatricians is created. As part of this process it is recomended that some genetic counselling
services are offered within GP practices where this is appropriate and is requested by the practice.
Three year total
£1,070,000
2.Improving primary care provision
Funding is allocated initially to 2 practices (with the potential to roll the service out to other
practices once proof of concept has been achieved) to take local clinical lead on the issue and to
offer opportunistic screening for thalassemia and use this as a vehicle for giving genetics advice
and family education on risks of marriage to close relatives and what actions can be taken/services
are available to ameliorate risks.
Three Year Total
£350,000
3.Training for professionals
The presence of the National Genetic Education and Development Centre (created by the White
paper “Our inheritance our future”) in Birmingham allows us to access national expertise on the
education of healthcare professionals. It is recommended that this is incorporated into the
programme for identifying affected families and initially focuses on GP and paediatricians. (costs
are included in section 1).
4. Communication Strategy
As part of the development of the specialised services a requirement is included for a
communications strategy to be put forward that covers the main issues likely to arrise from this
work. This should include a position statement developed in conjuntion with relevent PCTs
(specifically BEN, Bradford and Kirklees PCTs).
5.Evaluation
Evaluation costs have been built into the costings presented. Due to the specialised nature of the
service it is recomended that evaluation is conducted by an professional/organisation with expertise
in genetics.
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Recommendations

The PEC supports the funding by the PCT of the development of targeted genetic
counselling programme for high risk families and extended families (focused on the British
Pakistani community but open to all ethnic groups requiring help) commissioned through
the West Midlands Regional Genetic Service. Such a programe would require the training
and improvement of genetic literacy of health care professionals in contact with affected
families.

The PEC supports the PCT in giving priority to and commisioning the provision of more
comprehensive genetics services provided though primary care aimed at improving genetic
literacy in the population and allowing people to make informed choices regarding their
genetic risk.

The PEC supports the PCT developing a communications strategy and position statement in
conjunction with other PCTs likely to be affected by this issue (specifically Kirklees and
Bradford PCTs).

The PEC supports the PCTs funding of the research proposal by Dr Daar and Professor
Modell, in conjunction with BEN, Kirklees and Bradford PCTs, so as to ensure that the
necessary tools for implementation of a multidisciplinary strategy are available.

The funding for this initiative, at a total costs over a 3 year period of circ. £1,500,000 is
endorsed.
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