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					 Exploring communication about genetic risk:
          British Pakistani families

Alison Shaw, Department of Public Health, University of
                      Oxford




   “Negotiating risk: British Pakistani experiences of
               genetics” (forthcoming)

      Thanks: The Wellcome Trust Project grant
     Dr. Jane Hurst, Dept. Clinical Genetics, Oxford.
             Genetic Risk
• Diagnosis necessarily implicates other kin
• Approx 50% DNA shared with sibs, parents
  children etc
• “it runs in the family”: old idea
• Diagnostic improvements, new mutations
• New emphasis on kinship?
• “We have never seen this thing before”
             Diagnostic Work
•   Family tree and clinical investigations
•   Diagnosis
•   Assessment of reproductive risk for parents
•   Implications for other relatives (carriers)
                  Disclosure
• “Proband” encouraged to share
  information/encourage others to seek counselling
• Assume proband will do this (sometimes aunt,
  uncle, siblings are present in clinic)
• Important because genetic carrier, predictive and
  pre-natal tests are increasingly available (although
  treatment remains remote)
• but sometimes they say they can’t/won’t
                Clinical Issues
• Confidentiality versus duty to warn
• Is genetic information “exceptional”? (Shared
  substance distinguishes family so confidentiality should be
  overruled)
• This presupposes “family”
• What is the family that is to be informed?
                  Family
• Context dependent, cross-culturally/socially
  variable
• Constructed in genetics clinic
• Definitions of close relationships vary:
  memory, audience etc
• Are those deemed clinically at risk those the
  proband perceives as at risk?
What is communicated, to whom?
• Problematic, even where “disclosure” is
  assumed to have occurred: White British
  families (CF & range of disorders)
• Contradicts idea that genetic information
  brings families together
• Some may prefer clinicians to inform kin
• Debates about “right not to know”
How might these issues differ for
     British Pakistanis?
• Focus has been on British or Euro-American
  families
• Two hypotheses about “difference”:
• “A positive resource” (Darr 1997) consanguinity =
  mutations shared by people likely to marry and
  close family structure facilitates communication
• Patrilineal inheritance may conflict with
  biogenetic theory (Mendelian genetics)
            Study population
• 2001: 9,703 Pakistanis High Wycombe district
  (6%)
• Northern Pakistan/Mirpur Azad Kashmir.
• Some professionals, many poor, run-down estates
• 2 Referrals per month.
• Over 4 years 40 families recruited to project.
• Majority but not all “recessive” diagnosis.
• Elevated risk because of consanguinity
                Inheritance
• Same range of ideas about family characteristics:
  “sides”, gendered, skipping generations as among
  English,
• Some ideas about paternal contributions being
  stronger, but also strong views about importance
  of maternal contribution
• Experience can challenge prior theories
                  Communication
• Ikra
• Many English parents of children with recessive
  conditions understand their own reproductive risk
  (1/4) but not risk that others might be carriers
  (which has particular implications for marriages in family)
• It’s not just about education
• Bilaal’s mum
• Focus is on the child and immediate reproductive
  risk
     Privacy in extended families
• Ikra’s brother
• “Non disclosure” of test results common in genetics
  (e.g. Huntington’s 5%)
• Many reasons including fear such knowledge will
  prove divisive
• In Pakistani context “competitive fertility”: stigma
  of compromised fertility/childlessness e.g. conceal
  from brother
• May seek to conceal evidence of actual or potential
  reproductive failure e.g. real insecurity for daughter
  in law
 female


  male

deceased

affected
           3   4   2   5   1



divorced

 female


  male

deceased

affected

				
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posted:7/15/2013
language:English
pages:14