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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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