Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester, UK; Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.
Clin Exp Ophthalmol. 2014 Jan-Feb;42(1):65-77. doi: 10.1111/ceo.12159. Epub 2013 Aug 21.
Genetic testing is of increasing clinical utility for diagnosing inherited eye disease. Clarifying a clinical diagnosis is important for accurate estimation of prognosis, facilitating genetic counselling and management of families, and in the future will direct gene-specific therapeutic strategies. Often, precise diagnosis of genetic ophthalmic conditions is complicated by genetic heterogeneity, a difficulty that the so-called 'next-generation sequencing' technologies promise to overcome. Despite considerable counselling and ethical complexities, next-generation sequencing offers to revolutionize clinical practice. This will necessitate considerable adjustment to standard practice but has the power to deliver a personalized approach to genomic medicine for many more patients and enhance the potential for preventing vision loss.
遗传检测在诊断遗传性眼病方面具有越来越大的临床应用价值。明确临床诊断对于准确估计预后、促进遗传咨询和管理家族以及未来指导特定基因的治疗策略都很重要。通常，由于遗传异质性，对遗传性眼科疾病进行精确诊断很复杂，而所谓的“下一代测序”技术有望克服这一难题。尽管存在相当大的咨询和伦理复杂性，下一代测序技术有望彻底改变临床实践。这将需要对标准实践进行相当大的调整，但它有能力为更多患者提供基因组医学的个性化方法，并增强预防视力丧失的潜力。
