Paper short abstract:

This paper draws on work with British Pakistanis attending a genetics clinic. Clinicians establish genetic risks for health problems. Diagnosis and mutation research is often uncertain. Clients seek cures more than risk assessments and may pursue alternative explanations/treatments.

Paper long abstract:

Enrolment in genetics clinics is now part of the routine surveillance of infertility, birth anomaly and childhood and adult illness. In western biomedicine, a 'genetic' diagnosis is rooted in DNA and is in this sense immutable, despite claims about the prospects for gene therapy, and has implications for the health and reproductive futures of the affected individual and their close kin. Work in clinical genetics involves diagnosis and identifying health and reproductive risks for individuals and families. Lippman describes the assigning of an underlying genetic cause to problems with reproduction and health as 'geneticization' (1993); Rose and Novas suggest the enrolment in these processes is re-shaping the public consciousness of illness-causality, risk and responsibility to others (2005)

This paper draws on Wellcome Trust-funded fieldwork with British Pakistanis attending a genetics clinic in the UK. British Pakistanis have been identified as at elevated risk of recessive genetic disorders because of the practice of consanguineous marriage, a finding that has generated considerable policy debate. Most referrals in this study's sample of 69 families concerned rare recessive or 'probably recessive' disorders. This paper explores the degrees and limits of both clinicians' and clients' engagements in genetic diagnosis and risk assessment.

Clinicians are professionally committed to investigating a possible genetic aetiology for reproductive and health problems and estimating reproductive risks, but diagnostic processes are frequently marked by uncertainty, especially for rare recessive disorders. Genetic research, will, in theory, enable more accurate risk assessment, but enrolment in research raises complex issues of research interest and client consent, and may conflict with what clinicians regard as useful clinically for clients.

Clients' referral to clinical genetics is routine, but client engagement in clinical genetic processes is usually motivated more by a desire for treatment or cure than for risk assessment. Clinical diagnostic uncertainty may be mediated by a family's hopes regarding research, gene discovery, therapy and cure, but it also constitutes grounds for scepticism and uncertainty about genetic research. All of those enrolled via their DNA samples in genetic research had considered and sometimes actively pursued alternative explanations and treatments for their problems, although individuals differed in their views of the reliability of genetic science versus other systems of knowledge.

By identifying two slightly different agendas at work in how clients and how clinicians participate in genetic diagnostic processes, both of which contain elements of ambivalence, the paper questions straightforward assertions about how 'geneticization' occurs through clinical engagement. Nevertheless, a degree of co-operation and co-participation in clinical processes and in genetic research is necessary for the pursuit of these rather different goals.