Precision medicine is a medical paradigm founded on individual genetic information amalgamated with extensive clinical data to offer patients precise diagnoses and treatments. Genetic testing forms the cornerstone of accurate diagnosis, and skilled professionals in fields like clinical medicine, molecular biology, and bioinformatics play a crucial role in realizing the potential of precision medicine. This paper presents reference suggestions for the continuing education approach for relevant technical personnel. The main emphasis is on conducting routine face-to-face and hands-on training to enhance theoretical knowledge and professional skills. Secondly, there is a need to modify the training approach by reinforcing molecular biology, bioinformatics, and other courses, enhancing assessment methods, gradually implementing specialized training in precision medicine subspecialties, and ensuring effective clinical practice and management of precision medicine.
Heritable aortic disease (HAD) is characterized by thoracic aortic aneurysm/dissection with strong genetic predisposition and high clinical phenotypic heterogeneity. HAD is one of the main causes of sudden death. Early diagnosis of this disease is difficult because of atypical clinical symptoms, leading to the deterioration of disease with the development of aortic aneurysm, aortic dissection or sudden death. Genetic testing plays an important role in the early diagnosis, standardized follow-up, screening of family members, genetic counseling and individualized treatment of HAD. This review was focused on the application of genetic testing in the standardized diagnosis and treatment of HAD.
In recent years, the application of the long read single-molecule sequencing technology in clinical genetics testing has been increasingly widespread. Due to its sequencing process not requiring amplification and its characteristic of single-molecule sequencing and long reads, it has unique advantages compared to traditional molecular genetics testing such as Sanger sequencing, next-generation sequencing and chromosomal microarray. In this article, its application in the detection of chromosomal structural abnormalities, monogenic diseases, and preimplantation genetic testing for monogenic diseases were discussed. Along with a comparative analysis of the advantages and disadvantages of the long read single-molecule sequencing technology in these areas compared to traditional molecular genetics testing techniques. This article preliminarily explores the application prospects and value of the long read single-molecule sequencing technology in clinical genetics testing.