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

Date: July 2017

This article is 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 (eg, diagnosis of late-onset Pompe disease before the appearance of symptoms) and the impact and implications associated with a diagnosis (eg, 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.