Scodellaro Sierra, Cohn Ronald D, Cohn Iris
Division of Clinical Pharmacology and Toxicology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Program in Translational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Paediatr Child Health. 2023 Jun 6;28(4):205-245. doi: 10.1093/pch/pxad003. eCollection 2023 Jul.
In the past decade, there have been tremendous advancements in the field of genomics that have led to significant progress in redefining the concept of precision medicine. Pharmacogenetics (PGx) is one of the most promising areas of precision medicine and is the 'low hanging fruit' of this individualized approach to medication dosing and selection. Although a variety of regulatory health agencies and professional consortia have established PGx clinical practice guidelines, implementation has been slow given numerous barriers faced by health care professionals. Many lack the training needed to interpret PGx and there are no paediatric specific guidelines. As the field of PGx continues to grow, an emphasis on collaborative inter-professional education, coupled with ongoing efforts to increase accessibility to advancing testing technology are necessary to translate this branch of precision medicine from the bench to the bedside.
在过去十年中，基因组学领域取得了巨大进展，这在重新定义精准医学概念方面带来了重大进步。药物遗传学（PGx）是精准医学最有前景的领域之一，也是这种个体化药物剂量确定和选择方法的“低垂果实”。尽管各种监管卫生机构和专业联盟已经制定了PGx临床实践指南，但鉴于医疗保健专业人员面临众多障碍，实施进展缓慢。许多人缺乏解读PGx所需的培训，而且没有针对儿科的特定指南。随着PGx领域的不断发展，强调跨专业协作教育，同时持续努力提高先进检测技术的可及性，对于将这一精准医学分支从实验室转化到临床床边是必要的。
