Patient Perspectives, Unmet Needs and Dilemmas in Repro ductive Decision-making for Genodermatoses: A Qualitative Interview Study

Impact on quality of life due to inherited skin diseases (also known as genodermatoses) may lead to reproductive dilemmas for affected couples or individuals considering parenthood. Currently, little is known about reproductive decision-making (RDM) for those affected by or at-risk of genodermatoses. Couples/individuals' perspectives with genodermatoses were qualitatively explored by focusing on (i) the impact of these diseases on the desire to have children, (ii) the knowledge of different reproductive options and personal considerations and, (iii) experiences with reproductive counselling. Semi-structured interviews were conducted with participants aged ≥16 years, diagnosed with a genodermatosis, and an active, (un)fulfilled or future desire to have children and analysed using a reflexive thematic content approach. Thirty participants were interviewed until saturation. Two main themes and 9 subthemes were identified. Participants preferred wanting to avoid passing on their genodermatosis to offspring, thereby complicating RDM. This preference was influenced by negative experiences with the disease, resulting in fear and uncertainty about severe manifestations in offspring. Positives and shortcomings in clinical practice were expressed, particularly the lack of reproductive counselling as a standard part of care. This study highlights the substantial impact of genodermatoses in RDM and the importance of routine reproductive counselling for those affected by or at-risk of genodermatoses.