Diagnosis of genetic skin disease: beyond targeted sequencing

초록

Focus3: 정밀의학과 유전자 치료 세션 Title: Diagnosis of Genetic Skin Disease: Beyond Targeted Sequencing A wide variety of inherited skin disorders exist, and many syndromic genetic disorders are often accompanied by skin manifestations. Skin manifestations of genetic disorders are characterized by genetic heterogeneity, where genetic variants in different genes can lead to similar phenotypic outcomes, and to overcome this, next-generation sequencing methods that can examine multiple genes at once are widely used for diagnosis. Currently, popular methods focus on targeting the exome regions of disease-related genes. However, these approaches have limitations as they cannot detect genetic variants of non-coding region, structural variations, etc., potentially leading to misdiagnoses in a significant number of cases. Recent advances in genomic analysis technologies have enabled various genomic technologies to be utilized for the diagnosis of genetic diseases. These new approaches go beyond targeted sequencing and enable comprehensive analysis of genetic diseases. In this lecture, we will review whole genome sequencing and other current next-generation sequencing technologies that can help in the accurate diagnosis of inherited skin diseases and discuss their features and limitations. By utilizing these cutting-edge technologies, we are poised to usher in a new era of precision medicine where individuals suffering from these challenging genetic skin diseases can be treated with personalized interventions.