Genes and geneticization? The social construction of autosomal dominant polycystic kidney disease.
Critics of the new genetics argue that contemporary understandings of health and illness are becoming increasingly 'geneticized.' Salient implications of this critique are explored here within the context of Autosomal Dominant Polycystic Kidney Disease (PKD), a life-threatening genetic disease that causes fluid-filled cysts in the kidneys and progressive loss of renal function. Although PKD is very common, public awareness of the disease remains low and there is little clinical emphasis on hereditary aspects. Drawing upon qualitative interviews with 16 healthcare providers, 13 patients and 15 family members, this paper examines the social construction and clinical management of PKD. In particular, interviewees' perceptions of the role of genetics in PKD and views on presymptomatic testing are considered. Finding little impetus toward early diagnosis and/or presymptomatic identification of mutation carriers, we conclude that careful empirical study of PKD (or other neglected hereditary conditions) contributes new insights into factors mitigating geneticization.
The W. Maurice Young Centre for Applied Ethics, The University of British Columbia, 233-6356 Agricultural Road, Vancouver, British Columbia, Canada V6T 1Z2. suecox@interchange.ubc.ca
Susan M
SM
Cox
Rosalie C
RC
Starzomski
D001291:Attitude of Health Personnel; D001955:British Columbia; D002908:Chronic Disease / Q000523:psychology; D005190:Family / Q000523:psychology; D005817:Genetic Counseling / Q000523:psychology*; D005820:Genetic Testing / Q000523:psychology*; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D007407:Interviews as Topic; D009398:Nephrology; D010361:Patients / Q000523:psychology; D026684:Personal Autonomy; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology* / Q000628:therapy; D012017:Referral and Consultation; D006435:Renal Dialysis / Q000523:psychology