Abstract:

The advent of the era of precision medicine has opened up a new diagnosis and treatment model for rare disorders，and the development of multi-omics technology has also promoted the research and clinical application of precise phenotypes of rare disorders. The rapid development of genetic testing technology has improved the diagnostic efficiency of rare disorders and provides a molecular biological basis for their subsequent precision treatment. How to seize this opportunity to promote the development of rare disorder diagnosis and treatment，how to make genetic testing technology more efficiently in the clinic，benefit rare disorder patients and families，and achieve early diagnosis and treatment of rare disorders，deserve attention. Starting with the difficulties in the diagnosis and treatment of rare disorders and the application prospects of genetic testing technology in the diagnosis and treatment of rare disorders，this paper focuses on the challenges in the application process and proposes a popular application model.

Key words: Rare disorder, Genetic testing, Whole-genome sequencing