Section of Psychiatry, Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.
Unit of Clinical Psychiatry, University Hospital Agency of Cagliari, 09124 Cagliari, Italy.
Int J Mol Sci. 2023 Mar 1;24(5):4776. doi: 10.3390/ijms24054776.
The term severe mental illness (SMI) encompasses those psychiatric disorders exerting the highest clinical burden and socio-economic impact on the affected individuals and their communities. Pharmacogenomic (PGx) approaches hold great promise in personalizing treatment selection and clinical outcomes, possibly reducing the burden of SMI. Here, we sought to review the literature in the field, focusing on PGx testing and particularly on pharmacokinetic markers. We performed a systematic review on PUBMED/Medline, Web of Science, and Scopus. The last search was performed on the 17 September 2022, and further augmented with a comprehensive pearl-growing strategy. In total, 1979 records were screened, and after duplicate removal, 587 unique records were screened by at least 2 independent reviewers. Ultimately, forty-two articles were included in the qualitative analysis, eleven randomized controlled trials and thirty-one nonrandomized studies. The observed lack of standardization in PGx tests, population selection, and tested outcomes limit the overall interpretation of the available evidence. A growing body of evidence suggests that PGx testing might be cost-effective in specific settings and may modestly improve clinical outcomes. More efforts need to be directed toward improving PGx standardization, knowledge for all stakeholders, and clinical practice guidelines for screening recommendations.
严重精神疾病(SMI)这一术语涵盖了那些对患者及其所在社区造成最高临床负担和社会经济影响的精神障碍。药物基因组学(PGx)方法在实现治疗选择和临床结果的个体化方面具有巨大的潜力,可能会减轻 SMI 的负担。在这里,我们旨在对该领域的文献进行综述,重点关注 PGx 检测,特别是药代动力学标志物。我们在 PUBMED/Medline、Web of Science 和 Scopus 上进行了系统综述。最后一次搜索是在 2022 年 9 月 17 日进行的,并通过全面的珍珠生成策略进一步增强。总共筛选了 1979 条记录,在去除重复项后,至少有 2 名独立审查员筛选了 587 条独特的记录。最终,有 42 篇文章纳入了定性分析,其中包括 11 项随机对照试验和 31 项非随机研究。PGx 检测、人群选择和测试结果缺乏标准化,限制了对现有证据的总体解释。越来越多的证据表明,PGx 检测在特定环境下可能具有成本效益,并可能适度改善临床结果。需要进一步努力提高 PGx 的标准化、所有利益相关者的知识以及用于筛选建议的临床实践指南。