Genetic Counseling and Testing for FMR1 Gene Mutations

Centers offering population screening should ensure that they have the resources available to provide pre‐ and post‐test genetic counseling that supports the psychosocial and clinical needs of the patient and family. In light of widespread FMR1 testing among women without known risk factors, genetic counselors should anticipate seeing patients who did not receive any pre‐test information, have no prior knowledge of FMR1‐associated disorders, and are unprepared to learn that they have an FMR1 mutation.