The practice of precision medicine is quickly accepted and popularized as a new frontier for genetic disease diagnosis and management, particularly in diagnosing rare diseases, especially, genetic diseases and birth defects.The variety of mutation types associated with rare diseases include the protein coding sequence variations, the noncoding variations or the copy number variations, some of which are rare or de novo, in a broad mutation spectrum. Based on various case analyses, this paper shows the challenge and the importance of an accurate genetic variant interpretation and the standard follow-up genetic counseling service in providing the precision medicine for patients of rare diseases.

precision medicine  /  rare disease  /  variant interpretation  /  genetic counseling