Appearance-related stigma and its implications for genetic counselling practice

In an appearance conscious society, individuals with genetic conditions that affect appearance often face unique psychosocial challenges that can shape reproductive decision-making. While research has highlighted the role of stigma in shaping decision-making, little is known about how genetic counsellors perceive and address appearance-related concerns in clinical practice. This study explored the experiences of UK-based genetic counsellors working with individuals affected by congenital conditions that alter appearance, with a focus on reproductive decision-making. Using a qualitative design, six genetic counsellors across different genetic specialties were recruited and interviewed. Data were analysed using reflexive thematic analysis revealing three key themes. The first theme highlighted genetic counsellors' perceptions of how social and emotional factors (particularly guilt, shame and lived experience) influenced reproductive choices, with patients often expressing concern about passing on conditions associated with stigma. The second theme explored a perceived reluctance among patients to discuss appearance-related concerns which in turn made counsellors cautious about raising such topics. The third theme identified a need for more inclusive and accessible information and support, alongside enhanced training for counsellors in addressing appearance-related stigma. Participants emphasised the value of lived experience in shaping practice and called for greater awareness of the genetic counselling role to improve accessibility. These findings inform future training and support within genetic counselling.