Kara Anstett, MS, CGS, from NYU Langone Health, discusses the genetics of Pompe disease at the Muscular Dystrophy Association Engage Pompe Symposium in July 2020. The role of genetics and enzyme levels in various types of Pompe disease, testing options for diagnosis and carrier screening, and family planning are discussed. According to Ms Anstett, women with Pompe disease should discuss considerations for pregnancy, their specific risks, and a plan for their individual care.