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Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease
Journal article   Peer reviewed

Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease

Laura Davids, Yuxian Sun, Reneé H. Moore, Emily Lisi, Angela Wittenauer, William R. Wilcox and Nadia Ali
Molecular genetics and metabolism, v 134(01-02), pp 20-28
Sep 2021
DOI: https://doi.org/10.1016/j.ymgme.2021.09.001
PMID: 34602357
Featured in Collection :   UN Sustainable Development Goals @ Drexel

Abstract

Infantile-onset Pompe disease Late-onset Pompe disease Newborn screening Pompe disease
The addition of Pompe disease (PD) and other conditions with later-onset forms to newborn screening (NBS) in the United States (US) has been controversial. NBS technology cannot discern infantile-onset PD (IOPD) from later-onset PD (LOPD) without clinical follow-up. This study explores genetic health care practitioners’ (HCPs) experiences and challenges providing NBS patient care throughout the US and their resultant opinions on NBS for PD. An online survey was distributed to genetic counselors, geneticists, NBS follow-up care coordinators, and nurse practitioners caring for patients with positive NBS results for PD. Analysis of 78 surveys revealed the majority of participating HCPs support inclusion of PD on NBS. Almost all HCPs (93.3%) feel their state has sufficient resources to provide follow-up medical care for IOPD; however, only three-fourths (74.6%) believed this for LOPD. Common barriers included time lag between NBS and confirmatory results, insurance difficulties for laboratory testing, and family difficulties in seeking medical care. HCPs more frequently encountered barriers providing care for LOPD than IOPD (53.9% LOPD identified ≥3 barriers, 31.1% IOPD). HCPs also believe creation of a population of presymptomatic individuals with LOPD creates a psychological burden on the family (87.3% agree/strongly agree), unnecessary medicalization of the child (63.5% agree/strongly agree), and parental hypervigilance (68.3% agree/strongly agree). Opinions were markedly divided on the use of reproductive benefit as a justification for NBS. Participants believe additional education for pediatricians and other specialists would be beneficial in providing care for patients with both IOPD and LOPD, in addition to the creation of evidence-based official guidelines for care and supportive resources for families with LOPD.

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10 citations in Web of Science
6 citations in Scopus

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UN Sustainable Development Goals (SDGs)

This publication has contributed to the advancement of the following goals:

#3 Good Health and Well-Being

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Collaboration types
Domestic collaboration
International collaboration
Web of Science research areas
Endocrinology & Metabolism
Genetics & Heredity
Medicine, Research & Experimental
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