Newborn screening for pompe disease? a qualitative study exploring professional views

Area of Science:

• Medical Genetics
• Public Health
• Neonatal Care

Background:

• Pompe disease, a progressive muscle disorder, presents a diagnostic challenge due to its broad-spectrum phenotype, ranging from lethal infantile forms to later-onset milder cases.
• Current screening methods cannot distinguish between these disease forms, complicating decisions about adding it to newborn screening panels.
• Enzyme replacement therapy advancements have prompted discussions on including Pompe disease in neonatal screening programs.

Purpose of the Study:

• To explore professional perspectives on the pros and cons of implementing neonatal screening for Pompe disease.
• To understand the decision-making process and the weight given to different arguments in screening evaluations.
• To analyze the dilemmas associated with screening for broad-spectrum phenotype disorders.

Main Methods:

• Conducted 24 semi-structured interviews with diverse healthcare professionals, including medical, laboratory, insurance, and screening specialists, as well as patient organization leaders.
• Explored initial reactions to Pompe disease screening, followed by detailed discussions on potential benefits, harms, and necessary screening requirements.

Main Results:

• Identified advantages such as improved health outcomes via early intervention, reduced diagnostic odyssey, reproductive planning opportunities, and enhanced knowledge of disease natural history and treatment.
• Noted disadvantages including high treatment costs, uncertainty regarding treatment efficacy and timing for later-onset cases, and the psychological impact on patients and families.
• Highlighted concerns about the burden of prior knowledge and the implications of reproductive choices.

Conclusions:

• Professionals' views on Pompe disease neonatal screening vary, influenced by personal and professional perspectives, with a general expectation of benefits, particularly for early-onset cases.
• Some professionals support screening for later-onset Pompe disease, emphasizing the need for robust support systems for pre-symptomatic individuals and families.
• Others express reservations due to psychological burdens and treatment uncertainties, suggesting these factors weigh against screening implementation.