Expanding opportunities and emerging challenges: broadening the scope of genetic testing in nephrology

机遇拓展与挑战涌现:肾脏病学基因检测范围的扩大

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Abstract

Massively parallel sequencing technologies such as exome sequencing are increasingly applied across medicine. Connaughton et al. report a high diagnostic yield of exome sequencing among adults with hereditary nephropathy or nephropathy of unknown cause. Their findings support broader use of genomic sequencing in nephrology and highlight key associated questions, including how to identify those patients for whom testing is indicated, pinpoint pathogenic variants, and balance the resultant health care benefits and clinical follow-up burden.

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