Identifying Outcomes of Clinical Genetic Services: Qualitative Evidence and Methodological Considerations

Abstract

Extensive research into the tangible and intangible implications of Clinical Genetic Services (CGSs) has confirmed the relevance of a multidimensional outcome of benefit conceptually linked to perceived control. This paper aims to report qualitative findings from one small study aiming to add to the evidence pool confirming the relevance of such an outcome to participants from one UK clinical genetics center. Data were collected using focus groups and individual interviews with 22 service users from the following conditions: Hereditary Breast and Ovarian Cancer (HBOC), von Hippel Lindau disorder (VHL), Duchenne and Becker muscular dystrophy (DBMD), cystic fibrosis (CF) and tuberous sclerosis (TS). Transcripts were analyzed using thematic analysis and four dimensions of benefit were identified relating to cognitive, behavioral, social and emotional consequences. These dimensions related to an overarching conceptual outcome described as Perceived Familial Control. Findings are discussed to illustrate the inter-generational and intra-generational familial dimensions of CGSs and reinforce the significance of a familial focus to any genetics-specific outcome measure. The prospect and methodological considerations of a familial composite outcome measure for measuring overall benefit of CGSs is discussed based on current and past findings.