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

Laura Davids1, Yuxian Sun2, Reneé H Moore3

  • 1Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, United States of America.

Molecular Genetics and Metabolism
|October 4, 2021
PubMed

Insights

Genetic health care practitioners largely support Pompe disease (PD) on newborn screening (NBS). However, challenges exist in follow-up care for later-onset PD (LOPD) compared to infantile-onset PD (IOPD).

Area of Science:

  • Medical Genetics
  • Public Health Screening
  • Pediatric Care

Background:

  • Newborn screening (NBS) for Pompe disease (PD) is controversial, particularly regarding later-onset forms (LOPD).
  • Current NBS technology cannot distinguish infantile-onset PD (IOPD) from LOPD without clinical follow-up.
  • Understanding healthcare practitioners' (HCPs) experiences is crucial for evaluating PD inclusion in NBS.

Purpose of the Study:

  • To explore genetic HCPs' experiences and challenges in providing NBS patient care for PD in the US.
  • To assess HCPs' opinions on the inclusion of PD in NBS programs.
  • To identify barriers and facilitators in managing patients identified through NBS for PD.

Main Methods:

  • An online survey was distributed to genetic counselors, geneticists, NBS follow-up care coordinators, and nurse practitioners.
  • The survey targeted HCPs caring for patients with positive NBS results for PD.
  • Analysis included responses from 78 participating HCPs across the US.

Main Results:

  • The majority of HCPs support including PD in NBS.
  • Most HCPs believe states have adequate resources for IOPD follow-up, but fewer (74.6%) feel this for LOPD.
  • Common barriers include delays in results, insurance issues for testing, and family difficulties accessing care, with more barriers reported for LOPD.

Conclusions:

  • HCPs perceive significant challenges in managing LOPD identified through NBS, including psychological burden and unnecessary medicalization.
  • There is a need for enhanced education for pediatricians and specialists, evidence-based guidelines, and family support resources for LOPD.
  • While supporting PD on NBS, concerns about LOPD care necessitate targeted improvements in healthcare infrastructure and family support.

Keywords:
Infantile-onset Pompe diseaseLate-onset Pompe diseaseNewborn screeningPompe disease

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