Transcript Clinical perspective – ethnicity and genetics

Using assessments of biological and
genetic risk to inform policy
priorities: A practitioner perspective
Dr Carol Chu
Background
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Yorkshire Regional Genetics Service
– 3.6 million population
Bradford, Airedale, North Kirklees
high ethnic minority population
mainly South Asian
First genetic counselling service to
employ Asian counsellor
Now 3 full time Asian counsellors
with 2 more posts imminent
Presentation of some of the issues
around counselling in families
Consanguinity and autosomal
recessive disorders
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Rate of consanguinity in UK Pakistani population 2088%
Increased risk of abnormalities 3% - more if complex
consanguinity
1 in 100 babies from Pakistani community die of
lethal malformations
Non-lethal disorders 4X higher in Pakistani population
in Bradford than indigenous white
More than 136 recognisable AR conditions described
in Bradford with more presently un-named
Genetic testing only available for small proportion of
cases
Clinical experience –issues in
counselling
Definition of genetic counselling: a
communicative process which deals
with the human problems associated
with the occurrence or risk of
occurrence of a genetic disorder in a
family.
Some genetic counselling issues and
difficulties common to all ethnic
groups but some particular issues in
minority ethnic groups:
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Language/communication
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Cultural issues
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Health beliefs patients and doctors
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Lay beliefs regarding inheritance
Language/communication- use
of translators 1
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Translators should be used in
consultations with patients who do
not speak English. However,
practically difficult to arrange at
short notice and family members
often still used
Family 1 – patient with breast
cancer, did not speak English
Daughter went to surgical
appointments. Did not tell mother
that surgeon had suggested
mastectomy
Patient only realised after surgery
In another family 10 year old
daughter used to translate
Family 1
Breast cancer
Language/communication –
use of translators 2
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Even when translators used can be
difficult to get over medical
concepts unless translator is trained
Family 2- patient deaf and used
BSL, mother did not speak English
but could use some sign language,
father spoke English but did not
sign
Sign language interpreter needed
instruction about genetics before
she could explain to patient, Asian
counsellor explained to mother and
geneticist to father and via sign
language interpreter to patient
Family 2
Deafness
Language/communication –
use of translators 3
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Even if patients and family can
speak English difficult concepts
sometimes require own language
Family 3 – wife at high risk of
breast cancer. Husband spoke good
English but wanted counsellor to
explain in Urdu as well
No word for chromosome or cancer
in Urdu
Need to explain in concepts
applicable to culture e.g.
“chromosomes like prayer beads”
Family 3
5
Aleena
22 yrs
3
2
2
Cultural Issues 1
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May be cultural issues
which need to be taken
into account re
treatment
Family 4 – breast
cancer in Sikh man,
issues re chemotherapy
and facial hair loss
Women on ward wanted
to draw curtains round
bed to pray
Family 4
2
3
3
Cultural issues 2
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Stigma associated with
some conditions e.g
cancer and mental
illness
Family 5 – patient
would not tell anyone
about cancer due to
fear of stigmatisation in
the community. Patients
daughter did not tell her
in-laws that she was
taking mother to the
hospital
Family 5
4
4
3
Cultural Issues 3
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Medical profession may hold views
that patients from certain cultures will
not accept treatments e.g prenatal
diagnosis
Timescales involved e.g. ensoulment
at 120 days – problem in antenatal
screening
Family 6 had boy affected by DMD,
they requested PND for the next
pregnancy and had a girl
From 1990-1995 survey of PND in
Leeds 75% South Asian patients took
up offer of PND
Family 6
DMD
Cultural issues 4
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Culture may determine levels of
distress in families
Family 7 - 2nd girl born with
cliteromegaly (mild)
Family ashamed would not tell
anyone in extended family,
wouldn’t allow anyone else to
look after her, wanted to move
house
Worried that child might not look
male or female – Hijra
Would have preferred a disabled
child
Family 7
Cerebral palsy CAH
Health beliefs 1
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Health beliefs may make
counselling difficult
Family 8 patient has HD - 2
females in family with
mental health problems
“possessed by evil spirits”.
Affected men aggressive –
macho
Community shunned family
due to belief that patient
was drinking
Family 8
I:1
II:1
I:2
II:2
III:1
?
?
IV:1
39 yrs
IV:2
II:3
III:2
II:4
III:3
III:4
?
IV:3
?
IV:4
85 yrs
IV:5
69 yrs
IV:6
40 yrs
IV:7
50s
2
V:1
V:2
2
3
VI:1
VI:2
IV:8
30s
?
V:3
V:4
V:5
V:6
V:7
VI:4
VI:5
VI:6
VI:7
VI:8
3
VI:3
V:8
Health beliefs 2
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Health beliefs around cancer
may mean patients do not
believe genetic explanation
Family 9 – increased risk in
Jewish population due to
Jewish diet
Other beliefs that it may be
“catching” or prevented by
breast feeding
Family 9
Health beliefs 3 – medical
profession
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Genetics is a “new” subject
Knowledge of genetics for most
doctors is poor
Many doctors believe that breast
cancer cannot be passed on
through male line
Family 10 – daughter died breast
cancer at young age. Paternal
aunt affected –were not referred
until father also developed
breast cancer
Other daughters cancer picked
up on screening mammography
Family 10
4
Lay beliefs 1
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Autosomal recessive
inheritance difficult to
understand if no-one
else affected in family
Family 11 – three
affected children
explanation of recessive
inheritance rejected by
family – “evil eye”
Family 11
4
3
2
Lay beliefs 2
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In consanguineous
families where
autosomal dominant
conditions occur
patients (and doctors)
may think this is due to
consanguinity
However – increased
risks for children and
wider family
Family 12
I:1
II:1
III:1
IV:1
IV:2
4
4
V:1
V:2
III:2
IV:3
III:3
IV:4
III:4
IV:5
IV:6
3
V:3
V:4
I:2
II:2
II:3
III:5
IV:7
III:6
IV:8
III:7
IV:9
II:4
III:8
III:9
3
2
IV:10
IV:11
IV:12
IV:13
3
V:5
V:6
V:11
V:9
V:10
2
2
VI:4
VI:5
V:7
V:8
V:13
VI:6
VI:1
VI:2
VI:3
III:10
III:11
IV:14
IV:15
Lay beliefs 3 - disclosure
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In genetic conditions other
family members may be
affected or at risk of having
affected children
May be more than one
recessive condition running
in family that geneticist may
know about
Choices and surveillance rely
on disclosure of genetic risk
to relatives
Family 13
Yasmin
Conclusion
What does this mean for policy?
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Need better education about genetics for health care
professionals
Cultural sensitivity in dealing with genetic/biological
risk (not cultural stereotyping)
Antenatal screening policy-makers need to be aware
timing of screening important
Use of trained translators/counsellors will aid equity
of access
Good information in suitable format needs to be
available
Resources required for optimal culturally sensitive
services
Acknowledgements
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Dr Mushtaq Ahmed
Gulshan Karbani
Dr Peter Corry
Dr Karl Atkin
Professor Jenny Hewison
Yorkshire Regional Genetic Service
Patients and families