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 cant/wont

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) Its not just about education Bilaals mum Focus is on the child and immediate reproductive risk

Privacy in extended families Ikras brother Non disclosure of test results common in genetics (e.g. Huntingtons 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

divorced female male deceased affected 42315