Document Type

Article

Publication Date

1-10-2025

Publication Title

J Pers Med

Keywords

JGM

JAX Source

J Pers Med. 2025;15(1):25.

Volume

15

Issue

1

ISSN

2075-4426

PMID

39852217

DOI

https://doi.org/10.3390/jpm15010025

Abstract

Background/Objectives: Next-generation sequencing (NGS) can explain how genetics influence morbidity and mortality in children. However, it is unclear whether health providers will perceive and use such treatments. We conducted a discrete choice experiment (DCE) to understand Italian health professionals’ preferences for NGS to improve the diagnosis of paediatric genetic diseases. Methods: The DCE was adminis- tered online to 125 health professionals in Italy. We documented attributes influencing professionals’ decisions of NGS, including higher diagnostic yield, shorter counselling periods, cost, turnaround time, and the identification of fewer variants of unknown sig- nificance. Results: Results show that factors such as higher diagnostic yield, shorter counselling periods, lower costs, and faster turnaround times positively influenced the adoption of NGS tests. Willingness to pay (WTP) estimates varied from EUR 387 (95% CI, 271.8–502.9) for 7% increase in the diagnostic yield to EUR 469 (95% CI, 287.2–744.9) for a decrease of one week in the turnaround time. Responders would reduce diagnostic yield by 7% to decrease the turnaround time by one week in both the preference and the willingness to trade (WTT) spaces. Respondents prioritised diagnostic yield (RI = 50.36%; 95% CI 40.2–67.2%) compared to other attributes. Conclusions: therefore, health profes- sionals value NGS for allowing earlier, more accurate genetic diagnoses.

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