Sulieman Lina, McCoy Allison B, Sama Lipika, Peterson Josh F
Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN.
Department of General Internal Medicine, Harvard Medical School, Boston, MA.
Yearb Med Inform. 2024 Aug;33(1):168-174. doi: 10.1055/s-0044-1800738. Epub 2025 Apr 8.
Objective: Precision medicine uses individualized patient data, including genomic and social determinants of health SDoH), to provide optimized personalized patient treatment. In this scoping review, we summarize studies published in the last two years that reported on implementation of precision medicine in clinical decision support (CDS) related to precision medicine.
We searched PubMed for manuscripts published in 2022 and 2023 to retrieve publications that included CDS and precision medicine keywords and Mesh terms. We reviewed the abstracts and full texts to apply the inclusion criteria that the study must have described the implementation of precision medicine related CDS within electronic health records. We extracted the domain, type of data used in CDS, target population included in the implementation from the final set of included manuscripts.
Our search retrieved 285 manuscripts and papers. Sixteen (16) papers met inclusion criteria after manual review of the full text. Eight of the reviewed papers studied the successful implementation of pharmacogenomics in CDS, four studies investigated the implementation of disease risk, and only one paper described the implementation of CDS integrating social determinants of health.
Our scoping review of recent literature highlighted several findings. Pharmacogenomics is the most implemented precision medicine intervention based on published studies. Few reports describing disease risk and polygenic risk scores were found and no study addressed CDS for continuous biometric monitoring. Despite the increasing attention to social determinants of health as a key predictor of health outcomes, only one CDS incorporating SDoH have been publicly reported. Regular updates to scoping reviews can investigate barriers to implementation and identify solutions.
精准医学利用个体化的患者数据，包括基因组数据和健康的社会决定因素（SDoH），以提供优化的个性化患者治疗方案。在本范围综述中，我们总结了过去两年发表的关于精准医学在与精准医学相关的临床决策支持（CDS）中实施情况的研究。
我们在PubMed上搜索了2022年和2023年发表的手稿，以检索包含CDS和精准医学关键词及医学主题词的出版物。我们审查了摘要和全文，以应用纳入标准，即研究必须描述在电子健康记录中实施与精准医学相关的CDS的情况。我们从最终纳入的手稿集中提取了CDS中使用的数据领域、数据类型、实施中包括的目标人群。
我们的搜索检索到285篇手稿和论文。在对全文进行人工审查后，有16篇论文符合纳入标准。其中8篇综述论文研究了药物基因组学在CDS中的成功实施，4项研究调查了疾病风险的实施情况，只有1篇论文描述了整合健康社会决定因素的CDS的实施情况。
我们对近期文献的范围综述突出了几个发现。根据已发表的研究，药物基因组学是实施最广泛的精准医学干预措施。发现描述疾病风险和多基因风险评分的报告很少，且没有研究涉及连续生物特征监测的CDS。尽管健康的社会决定因素作为健康结果的关键预测因素越来越受到关注，但仅有一项纳入健康社会决定因素的CDS被公开报道。定期更新范围综述可以调查实施的障碍并确定解决方案。
