The Role of Genetic Counseling in Pompe Disease After Patients Are Identified Through Newborn Screening (NBS)

This article is a closed-access publication. It was derived from expert consensus from the Pompe Disease Newborn Screening (NBS) Working Group, and is intended to help guide genetic counseling efforts and provide a clear understanding of the role for families or carriers of Pompe disease identified through NBS; explain special considerations (e.g., diagnosis of late-onset Pompe disease before the appearance of symptoms) and the impact and implications associated with a diagnosis (e.g., determination of genetic risk and carrier status and preconception counseling); and provide health care teams caring for patients with a framework for a standardized approach to genetic counseling for patients and at-risk family members.

Atherton, A., & Day-Salvatore, D. (2017). The role of genetic counseling in pompe disease after patients are identified through newborn screening. Pediatrics, 140(1), S46-S50. 10.1542/peds.2016-0280F