| Theme | Genome medicine and novel therapeutic targets of kidney diseases | |
|---|---|---|
| Title | Usefulness of and prospects for comprehensive genetic testing panels for inherited kidney diseases using NGS | |
| Publish Date | 2018/01 | |
| Author | Takayasu Mori | Department of Hemodialysis, Tokyo Medical and Dental University Medical Hospital |
| [ Summary ] | Next Generation Sequencing (NGS) technology defies the common wisdom of DNA sequence analysis using the conventional Sanger sequencing method. NGS does not function within the original parameters of sequencing. This technology is widely used in the field of basic medicine dealing with various 'omics'. Recently, due to decreasing costs and improvements in computer processing capacities, large-scale whole genome sequencing projects have been promoted worldwide. We introduced NGS technology for genetic diagnosis, especially for the field of nephrology. We have developed a comprehensive diagnostic panel which enables genetic screening for more than 160 genes which cause inherited kidney diseases. We have started the clinical implementation. While recognizing the usefulness of comprehensive diagnosis, it is also true that we face many challenges, such as difficulties in interpreting the pathological significance of newly detected variants, and ethical considerations. In this article, we will primarily focus on the topic of panel diagnosis related to various NGS methods, and outline functional problems, as well as future prospects. |
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