Genetic unexceptionalism: Clinician accounts of genetic testing for familial hypercholesterolaemia

This paper considers the implications of genetic testing in the case of familial hypercholesterolaemia, drawing on twenty semi-structured interviews with general practitioners (family doctors in primary care), nurses and specialists in hospital clinics (secondary care) in the UK. Though these professionals appear aware of and interested in the genetic component of the condition, and DNA testing is underway in at least some centres, their accounts suggest that the genetic test is not having a major impact on clinical work. Instead we find that professionals report that they generally rely on other information when making a diagnosis, especially cholesterol levels understood as a key risk factor, while the results of DNA tests, if used, come late in a much longer series of clinical investigations, judgements and interventions. In addition to elaborating professional views of genetic testing, the research provides a way of understanding other studies that describe lay people as not necessarily privileging genetic explanations of familial hypercholesterolaemia.UK DNA testing Hypercholesterolaemia Cholesterol Heart disease Diagnosis Professionals Genetic exceptionalism