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突变感知配方:公平全球皮肤美容化妆品的基因组框架。

Mutation-aware formulation: a genomic framework for equitable global dermocosmetics.

作者信息

Rahman Eqram, Webb William Richard, Rao Parinitha, Carruthers Jean D A

机构信息

Research and Innovation Hub, Innovation Aesthetics, London, UK.

Research and Innovation Hub, Innovation Aesthetics, London, WC2H 9JQ, UK.

出版信息

Hum Genet. 2025 Aug 13. doi: 10.1007/s00439-025-02771-9.

Abstract

Despite advances in dermatogenomics, the global skincare industry continues to rely on generalized formulation strategies that overlook population-specific genetic variation. This study introduces a mutation-aware framework that bridges this translational gap through two novel metrics: the Mutation Burden Index (MBI)-which quantifies regional genetic vulnerability across nine core skin function domains-and the Population Compatibility Burden (PCB)-which measures the alignment between current commercial formulations and regional genomic needs. Using a curated database of more than 200 authenticated cosmeceutical products, we mapped ingredient functionality against regional MBI profiles. Results reveal a stark compatibility gap: regions with the highest burden (e.g., Africa, South Asia) receive the least functionally aligned products, with average compatibility scores as low as 0.35. In contrast, Europe-despite lower burden-achieves scores > 0.70. Simulated formulations informed by MBI scores increased compatibility to > 0.80 in underserved regions, demonstrating the potential for 50% gains in biological relevance without individualized genotyping. A machine learning classifier trained on MBI vectors achieved strong performance (F1 = 0.837), and SHAP-based interpretation highlighted barrier and pigmentation pathways as key drivers of product-region mismatch. In contrast to commercial AI platforms offer black-box personalization with minimal genomic input and no interpretability, our model provides transparent, biologically grounded, and reproducible formulation logic. By repositioning personalization from individual-level luxury to population-scale equity, this work establishes a practical foundation for genomically aligned skincare-anchored in functional biology, enabled by AI, and designed for global impact.

摘要

尽管皮肤基因组学取得了进展,但全球护肤品行业仍继续依赖于忽视人群特异性基因变异的通用配方策略。本研究引入了一个突变感知框架,通过两个新指标弥合这一转化差距:突变负担指数(MBI)——量化九个核心皮肤功能领域的区域基因易损性,以及人群兼容性负担(PCB)——衡量当前商业配方与区域基因组需求之间的一致性。我们使用一个包含200多种经认证的药妆产品的精选数据库,将成分功能与区域MBI概况进行了映射。结果显示出明显的兼容性差距:负担最高的地区(如非洲、南亚)获得的功能匹配产品最少,平均兼容性得分低至0.35。相比之下,欧洲尽管负担较低,但得分>0.70。根据MBI评分提供信息的模拟配方在服务不足的地区将兼容性提高到>0.80,表明在无需进行个体基因分型的情况下,生物相关性有50%提升的潜力。在MBI向量上训练的机器学习分类器表现出色(F1 = 0.837),基于SHAP的解释突出了屏障和色素沉着途径是产品与区域不匹配的关键驱动因素。与提供黑箱式个性化、基因组输入极少且无解释性的商业人工智能平台不同,我们的模型提供了透明、基于生物学且可重复的配方逻辑。通过将个性化从个体层面的奢侈品重新定位为人群规模的公平性,这项工作为基于功能生物学、由人工智能驱动且旨在产生全球影响的基因组学对齐护肤品奠定了实用基础。

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