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; Nadia Ali

doi:10.1016/j.ymgme.2021.09.001

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

Mol Genet Metab. 2021 Sep-Oct;134(1-2):20-28. doi: 10.1016/j.ymgme.2021.09.001. Epub 2021 Sep 15.

Authors

Laura Davids¹, Yuxian Sun², Reneé H Moore³, Emily Lisi⁴, Angela Wittenauer⁵, William R Wilcox⁵, Nadia Ali⁵

Affiliations

¹ Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, United States of America. Electronic address: laura.davids@emoryhealthcare.org.
² Department of Biostatistics & Bioinformatics, Rollins School of Public Health and Biostatistics Collaboration Core, Emory University School of Medicine, Atlanta, GA, United States of America; Clinical Center on TB, Beijing Chest Hospital, Capital Medical University, Beijing, China.
³ Department of Biostatistics & Bioinformatics, Rollins School of Public Health and Biostatistics Collaboration Core, Emory University School of Medicine, Atlanta, GA, United States of America.
⁴ Graduate School of Arts and Sciences, Biomedical Sciences Division, Wake Forest University, Winston-Salem, NC, United States of America.
⁵ Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, United States of America.

PMID: 34602357
DOI: 10.1016/j.ymgme.2021.09.001

Abstract

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.

Keywords: Infantile-onset Pompe disease; Late-onset Pompe disease; Newborn screening; Pompe disease.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Attitude*
Delivery of Health Care
Glycogen Storage Disease Type II / diagnosis*
Glycogen Storage Disease Type II / genetics
Health Personnel / psychology*
Humans
Infant, Newborn
Late Onset Disorders
Neonatal Screening*