Using assessments of biological
and genetic risk to inform policy
priorities: A practitioner
perspective
Dr Carol Chu
Background
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
Rate of consanguinity in UK Pakistani population 20-
88%
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:
Language/communication
Cultural issues
Health beliefs patients and doctors
Lay beliefs regarding inheritance
Language/communication-
use of translators 1
Translators should be used in Family 1
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
Breast cancer
mastectomy
Patient only realised after surgery
In another family 10 year old
daughter used to translate
Language/communication
– use of translators 2
Even when translators used can
be difficult to get over medical
Family 2
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 Deafness
patient
Language/communication
– use of translators 3
Even if patients and family can Family 3
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 5
Aleena
Need to explain in concepts 22 yrs
applicable to culture e.g. 3 2 2
“chromosomes like prayer beads”
Cultural Issues 1
May be cultural issues Family
4
which need to be
taken into account re
treatment
Family 4 – breast
cancer in Sikh man,
2 3
issues re
chemotherapy and
facial hair loss
Women on ward
wanted to draw 3
curtains round bed to
pray
Cultural issues 2
Stigma associated Family 5
with some conditions
e.g cancer and
mental illness
Family 5 – patient
would not tell anyone
about cancer due to 4 4
fear of stigmatisation
in the community.
Patients daughter did 3
not tell her in-laws
that she was taking
mother to the
hospital
Cultural Issues 3
Medical profession may hold
views that patients from certain Family 6
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 DMD
Cultural issues 4
Culture may determine levels
of distress in families Family 7
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 Cerebral palsy CAH
Health beliefs 1
Health beliefs may make Family 8
counselling difficult
Family 8 patient has HD I:1 I:2
- 2 females in family
with mental health
II:1 II:2 II:3 II:4
problems “possessed by III:1 III:2 III:3 III:4
evil spirits”. Affected ? ? ? ?
men aggressive – macho
IV:1 IV:2 IV:3 IV:4 IV:5 IV:6 IV:7 IV:8
39 yrs 85 yrs 69 yrs 40 yrs 50s 30s
Community shunned
2 ?
V:1 V:2 V:3 V:4 V:5 V:6 V:7 V:8
family due to belief that 2 3 3
patient was drinking
VI:1 VI:2 VI:3 VI:4 VI:5 VI:6 VI:7 VI:8
Health beliefs 2
Health beliefs around Family 9
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
Health beliefs 3 – medical
profession
Genetics is a “new” subject
Knowledge of genetics for Family 10
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.
4
Paternal aunt affected –were
not referred until father also
developed breast cancer
Other daughters cancer
picked up on screening
mammography
Lay beliefs 1
Autosomal recessive
Family 11
inheritance difficult
to understand if no-
one else affected in
family
Family 11 – three
affected children
explanation of
recessive inheritance
rejected by family – 4 3 2
“evil eye”
Lay beliefs 2
In consanguineous
Family 12
families where
autosomal dominant
conditions occur
patients (and
I:1 I:2
doctors) may think II:1 II:2 II:3 II:4
this is due to III:1 III:2 III:3 III:4 III:5 III:6 III:7 III:8 III:9 III:10 III:11
consanguinity IV:1 IV:2 IV:3 IV:4 IV:5 IV:6 IV:7 IV:8 IV:9
3
IV:10
2
IV:11 IV:12 IV:13 IV:14 IV:15
However – increased 4 4 3 3
risks for children and
V:1 V:2 V:3 V:4 V:5 V:6 V:11 V:9 V:10 V:7 V:8 V:13
2 2 VI:6
wider family
VI:4 VI:5 VI:1 VI:2 VI:3
Lay beliefs 3 - disclosure
In genetic conditions other
family members may be Family 13
affected or at risk of
having affected children
May be more than one
recessive condition
running in family that
geneticist may know Yasmin
about
Choices and surveillance
rely on disclosure of
genetic risk to relatives
Conclusion
What does this mean for policy?
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
Dr Mushtaq Ahmed
Gulshan Karbani
Dr Peter Corry
Dr Karl Atkin
Professor Jenny Hewison
Yorkshire Regional Genetic Service
Patients and families
