Department of Clinical & Diagnostic Sciences, University of Alabama at Birmingham, AL 35294, USA.
Department of Preventive Medicine, University of Alabama at Birmingham, AL 35294, USA.
Pharmacogenomics. 2024 Mar;25(4):207-216. doi: 10.2217/pgs-2023-0189. Epub 2024 Mar 20.
The study aim was to determine caregiver interest and planned utilization of pharmacogenomic (PGx) results for their child with Prader-Willi syndrome. Caregivers consented to PGx testing for their child and completed a survey before receiving results. Of all caregivers (n = 48), 93.8% were highly interested in their child's upcoming PGx results. Most (97.9%) planned to share results with their child's medical providers. However, only 47.9% of caregivers were confident providers would utilize the PGx results. Caregivers are interested in utilizing PGx but are uncertain providers will use these results in their child's care. More information about provider comfort with PGx utilization is needed to understand how PGx education would benefit providers and ultimately patients with PGx results.
本研究旨在确定照顾者对其患有普拉德-威利综合征的孩子的药物基因组学（PGx）结果的兴趣和计划利用情况。照顾者同意对其孩子进行 PGx 检测，并在收到结果之前完成了一项调查。在所有照顾者（n=48）中，93.8%的人对其孩子即将获得的 PGx 结果非常感兴趣。大多数（97.9%）计划与孩子的医疗服务提供者分享结果。然而，只有 47.9%的照顾者有信心提供者会利用 PGx 结果。照顾者有兴趣利用 PGx，但不确定提供者是否会将这些结果用于孩子的治疗。需要更多关于提供者对 PGx 利用的舒适度的信息，以了解 PGx 教育将如何使提供者受益，最终使有 PGx 结果的患者受益。
