Nearly 95% of healthcare providers are in favor of the inclusion of Pompe disease in newborn screening, according to a new study published in Molecular Genetics and Metabolism.

However, many clinicians reported encountering barriers to effectively treating patients with newborn screenings indicative of Pompe disease. The most commonly reported barriers were lag time between newborn screening results and confirmatory testing (67.2%), family resistance to seeking care (49.3%), and difficulty obtaining insurance coverage for laboratory testing (46.3%).

When differentiating between infantile-onset PD (IOPD) and late-onset PD (LOPD), 53.9% of providers reported 3 or more barriers for the treatment of LOPD compared to only 31.1% for IOPD, the authors said.

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All survey participants agreed that newborn screening enabled early monitoring of IOPD (80% strongly agree and 20% agree). Participants agreed that it led to better health outcomes for patients with LOPD (61.9%), and 95% agreed that it led to better health outcomes in IOPD.

Genetic testing cannot always predict whether the patient will develop IOPD or LOPD, and newborn screening typically detects LOPD more frequently than IOPD, according to the authors. As a result, there was some concern over the creation of presymptomatic “patients-in-waiting” and the healthcare providers reported that this created a psychological burden.

The psychological effects included burden on the family (87.3%), hypervigilance in parents (68.3%), and an unnecessary medicalization of the children (63.5%), the authors said. Because of the difficulties experienced in treating children with Pompe disease, survey respondents expressed a desire for more education about the disease for pediatricians and other specialists.

The respondents also indicated a desire for more evidence-based guidelines on how to care for children with LOPD and support their families. “The need for education on [Pompe disease] for pediatricians and other specialists, creation of official evidence-based guidelines for care of infants with LOPD, and attention to psychological ramifications for families are particularly highlighted,” the authors said based on the study’s results.

The study included responses from 78 healthcare providers, mostly genetic counselors (42.31%) and geneticists (30.77%), who had worked with patients receiving a positive newborn screening test for Pompe disease. Survey participants were in various locations throughout the US but almost half of them were from the Midwest, where newborn screening for PD had been adopted early.


Davids L, Sun Y, Moore RH, et al. Health care practitioners’ experience-based opinions on providing care after a positive newborn screen for Pompe disease. Mol Genet Metab. Published online September 15, 2021. doi:10.1016/j.ymgme.2021.09.001