Division of Clinical Pharmacology and Toxicology, Section of Rheumatology, Children's Mercy Hospital, Kansas City, Missouri, USA.
Curr Opin Rheumatol. 2012 Sep;24(5):541-7. doi: 10.1097/BOR.0b013e3283556d13.
Despite major advancements in therapeutics, variability in drug response remains a challenge in both adults and children diagnosed with rheumatic disease. The genetic contribution to interindividual variability has emerged as a promising avenue of exploration; however, challenges remain in making this knowledge relevant in the clinical realm.
New genetic associations in patients with rheumatic disease have been reported for disease modifying antirheumatic drugs, antimetabolites and biologic drugs. However, many of these findings are in need of replication, and few have taken into account the concept of ontogeny, specific to pediatrics.
In the current era in which we practice, genetic variation will undoubtedly contribute to variability in therapeutic response and may be a factor that will ultimately impact individualized care. However, preliminary studies have shown that there are many hurdles that need to be overcome as we explore pharmacogenomic associations specifically in the field of pediatric rheumatology.
尽管在治疗学方面取得了重大进展，但在诊断为风湿性疾病的成人和儿童中，药物反应的可变性仍然是一个挑战。个体间变异的遗传贡献已成为一个有前途的探索途径；然而，在将这一知识应用于临床领域方面仍然存在挑战。
风湿性疾病患者的疾病修饰抗风湿药物、抗代谢物和生物药物的新遗传相关性已被报道。然而，这些发现中有许多需要复制，并且很少考虑到儿科特有的个体发生概念。
在我们目前实践的时代，遗传变异无疑将导致治疗反应的可变性，并且可能成为最终影响个体化治疗的一个因素。然而，初步研究表明，在我们专门探索儿科风湿病领域的药物基因组学相关性时，还有许多障碍需要克服。
