Age-related macular degeneration (AMD) is a complex disease with multiple genetic and environmental risk factors. In the age of molecular genetics, many investigators have established a link between genes and development or progression of the disease. This later evolved to determine whether phenotypic features of AMD have distinct genetic profiles. Molecular genetics have subsequently been introduced as factors in risk assessment models, increasing the predictive value of these tools. Models seek to predict either development or progression of disease, and different AMD-related genes aid our understanding of these respective features. Several investigators have attempted to link molecular genetics with treatment response, but results and their clinical significance vary. Ocular and systemic biomarkers may interact with established genes, promising future routes of ongoing clinical assessment. Our understanding of AMD molecular genetics is not yet sufficient to recommend routine testing, despite its utility in the research setting. Clinicians must be wary of misusing population-based risk models from genetic and biomarker associations, as they are not necessarily relevant for individual counseling. This review addresses the known uses of predictive genetics, and suggests future directions.

中文翻译：

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AMD的预测遗传学：炒作，并寄希望于基于遗传学的治疗和预防策略。

年龄相关性黄斑变性（AMD）是一种具有多种遗传和环境危险因素的复杂疾病。在分子遗传学时代，许多研究人员已经在基因与疾病的发展或进程之间建立了联系。后来演变为确定AMD的表型特征是否具有独特的遗传特征。随后将分子遗传学作为风险评估模型中的因素，从而增加了这些工具的预测价值。模型试图预测疾病的发展或进展，不同的AMD相关基因有助于我们对这些各自特征的理解。一些研究者试图将分子遗传学与治疗反应联系起来，但结果及其临床意义各不相同。眼部和全身生物标记物可能与已建立的基因相互作用，进行临床评估的有希望的未来途径。尽管我们对AMD分子遗传学的了解尚不足以推荐进行常规检测，但尽管它在研究环境中很有用。临床医生必须警惕滥用遗传和生物标记协会提供的基于人群的风险模型，因为它们不一定与个人咨询有关。这篇综述阐述了预测遗传学的已知用途，并提出了未来的方向。