P575: Navigating uncertainty: Explorative study of factors influencing carrier testing in siblings of individuals with purine and pyrimidine metabolism disorders

Genetic counseling for rare diseases can be challenging, given the limited literature available and the variable presentation of many rare diseases, including disorders of purine and pyrimidine metabolism (DPPM). Current recommendations from the American College of Medical Genetics and Genomics (ACMG) do not support targeted carrier testing of unaffected minors for recessive conditions. In rare diseases, with medically ambiguous language, limited understanding of natural history, and limited treatment available, parents and family members frequently experience uncertainty.