Maddali Manoj V, Oldham Justin M, Moor Catharina C
Division of Pulmonary, Allergy, and Critical Care Medicine.
Department of Biomedical Data Science, Stanford University, Stanford, California.
Curr Opin Pulm Med. 2025 Sep 1;31(5):504-511. doi: 10.1097/MCP.0000000000001199. Epub 2025 Jul 11.
Interstitial lung disease (ILD) presents significant diagnostic and therapeutic challenges due to underlying biological heterogeneity and variable clinical course. Traditional diagnostic and prognostic tools are limited in their ability to capture this heterogeneity or guide personalized treatment. Advances in biological phenotyping have set the stage for precision medicine in ILD, improving diagnosis, prognosis, and therapeutic decision-making in ILD. This review highlights recent advances in biological phenotyping technologies and their potential to reshape ILD care.
Emerging evidence supports the use of genomic, transcriptomic, and proteomic, and metabolomic biomarkers to identify distinct ILD subgroups with prognostic or therapeutic relevance. Several biomarkers are being evaluated prospectively, including TOLLIP genotype and eNose technology. Machine learning enables the integration of high-dimensional multiomics data, offering insights beyond what single biomarkers can provide.
Precision medicine in ILD is advancing rapidly and holds promise for more individualized care. Future efforts should prioritize multimodal integration, prospective validation across diverse ILD subtypes, and translating research into clinical practice. Continued innovation and collaboration will be essential to fully realize the potential of precision medicine in transforming ILD care and research.
由于潜在的生物学异质性和多变的临床病程,间质性肺疾病(ILD)在诊断和治疗上面临重大挑战。传统的诊断和预后工具在捕捉这种异质性或指导个性化治疗方面能力有限。生物学表型分析的进展为ILD的精准医学奠定了基础,改善了ILD的诊断、预后和治疗决策。本综述重点介绍了生物学表型分析技术的最新进展及其重塑ILD治疗的潜力。
新出现的证据支持使用基因组、转录组、蛋白质组和代谢组生物标志物来识别具有预后或治疗相关性的不同ILD亚组。几种生物标志物正在进行前瞻性评估,包括TOLLIP基因型和电子鼻技术。机器学习能够整合高维多组学数据,提供单个生物标志物无法提供的见解。
ILD的精准医学正在迅速发展,有望实现更个性化的治疗。未来的努力应优先考虑多模式整合、跨不同ILD亚型的前瞻性验证,以及将研究转化为临床实践。持续的创新和合作对于充分实现精准医学在改变ILD治疗和研究方面的潜力至关重要。