Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.
Curr Opin Pediatr. 2023 Dec 1;35(6):615-619. doi: 10.1097/MOP.0000000000001260. Epub 2023 May 23.
There are thousands of different clinical genetic tests currently available. Genetic testing and its applications continue to change rapidly for multiple reasons. These reasons include technological advances, accruing evidence about the impact and effects of testing, and many complex financial and regulatory factors.
This article considers a number of key issues and axes related to the current and future state of clinical genetic testing, including targeted versus broad testing, simple/Mendelian versus polygenic and multifactorial testing models, genetic testing for individuals with high suspicion of genetic conditions versus ascertainment through population screening, the rise of artificial intelligence in multiple aspects of the genetic testing process, and how developments such as rapid genetic testing and the growing availability of new therapies for genetic conditions may affect the field.
Genetic testing is expanding and evolving, including into new clinical applications. Developments in the field of genetics will likely result in genetic testing becoming increasingly in the purview of a very broad range of clinicians, including general paediatricians as well as paediatric subspecialists.
目前有数千种不同的临床基因检测。由于多种原因，基因检测及其应用仍在迅速变化。这些原因包括技术进步、关于检测的影响和效果的累积证据，以及许多复杂的财务和监管因素。
本文考虑了与当前和未来临床基因检测状态相关的一些关键问题和方面，包括靶向检测与广泛检测、单基因/孟德尔检测与多基因和多因素检测模型、对高度怀疑遗传疾病个体的基因检测与通过人群筛查确定遗传疾病、人工智能在基因检测过程的多个方面的兴起，以及快速基因检测的发展以及新的遗传疾病治疗方法的日益普及等发展可能如何影响该领域。
基因检测正在不断扩展和发展，包括新的临床应用。遗传学领域的发展可能导致基因检测越来越多地属于非常广泛的临床医生的范畴，包括普通儿科医生和儿科专家。
