Determining the disease-specific knowledge gaps in patients, family members, and caregivers living with lysosomal diseases

There is a lack of information about knowledge gaps in the lysosomal storage disease (LSD) population, which limits the capacity for proper genetic counseling. This is the first study to discern these gaps and assesses if online information can fill them. This study consists of a pre-survey, a research period, and a post-survey. The pre-survey collects demographic information, tests knowledge, and determines participants’ questions. Questions are split into current and initial questions (from the time of diagnosis). Participants are then directed to ThinkGenetic.com, a source for accurate and current genetic information, for research at their leisure. The post-survey determines if knowledge scores improved and if questions were answered. 100 participants were recruited from the Emory University Lysosomal Storage Disease Clinic. 34 participants achieved perfect scores (5) on both surveys. Scores changed for 34 participants, in which all but 4 increased. The median increase was 1. All decreased scores lowered by 1 point. The majority of initial and current questions pertained to treatment. Initial questions also focused on daily living and general knowledge of the disease. Current questions also focused on daily living. 51 participants reported finding answers to their initial questions, whereas only 33 participants reported finding answers to their current questions. Participants reported that questions remained about treatment, research studies, and daily living, indicating that this is where their knowledge gaps lie. The data suggests that accurate online information can answer questions at the time of diagnosis. However, as they live longer with the disease, participants accumulate questions that may require further research. The small increase in knowledge scores is attributed to the small number of knowledge questions and the high baseline knowledge of the cohort. We will continue this study with more LSD patients, family members, and caregivers.