Nurchis Mario Cesare, Altamura Gerardo, Raspolini Gian Marco, Capobianco Enrico, Salmasi Luca, Damiani Gianfranco
Department of Life Science, Health and Health Professions, Università degli Studi Link, 00165 Rome, Italy.
Section of Hygiene, Department of Health Science and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
J Pers Med. 2025 Jan 10;15(1):25. doi: 10.3390/jpm15010025.
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. The DCE was administered 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 significance. 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. therefore, health professionals value NGS for allowing earlier, more accurate genetic diagnoses.
下一代测序（NGS）能够解释遗传学如何影响儿童的发病率和死亡率。然而，尚不清楚医疗服务提供者是否会认识并采用此类检测方法。我们开展了一项离散选择实验（DCE），以了解意大利医疗专业人员对于利用NGS改善儿科遗传病诊断的偏好。该DCE通过在线方式对意大利的125名医疗专业人员进行。我们记录了影响专业人员对NGS决策的属性，包括更高的诊断率、更短的咨询时间、成本、周转时间以及鉴定出更少的意义未明的变异。结果表明，更高的诊断率、更短的咨询时间、更低的成本以及更快的周转时间等因素对采用NGS检测产生了积极影响。支付意愿（WTP）估计值有所不同，诊断率提高7%时为387欧元（95%置信区间，271.8 - 502.9），周转时间减少一周时为469欧元（95%置信区间，287.2 - 744.9）。在偏好和交易意愿（WTT）空间中，受访者会将诊断率降低7%以将周转时间减少一周。与其他属性相比，受访者将诊断率列为首要考量因素（相对重要性 = 50.36%；95%置信区间40.2 - 67.2%）。因此，医疗专业人员重视NGS能够实现更早、更准确的基因诊断。
