Cousin Margot A, Matey Eric T, Blackburn Patrick R, Boczek Nicole J, McAllister Tammy M, Kruisselbrink Teresa M, Babovic-Vuksanovic Dusica, Lazaridis Konstantinos N, Klee Eric W
Center for Individualized MedicineMayo ClinicRochesterMinnesota.
Department of Health Sciences ResearchMayo ClinicRochesterMinnesota.
Mol Genet Genomic Med. 2017 Mar 19;5(3):269-279. doi: 10.1002/mgg3.283. eCollection 2017 May.
We characterized the pharmacogenomics (PGx) results received by diagnostic odyssey patients as secondary findings during clinical whole exome sequencing (WES) testing as a part of their care in Mayo Clinic's Individualized Medicine Clinic to determine the potential benefits and limitations to this cohort.
WES results on 94 patients included a subset of PGx variants in ,, and if identified in the patient. Demographic, phenotypic, and medication usage information was abstracted from patient medical data. A pharmacist interpreted the PGx results in the context of the patients' current medication use and made therapeutic recommendations.
The majority was young with a median age of 10 years old, had neurological involvement in the disease presentation (71%), and was currently taking medications (90%). Of the 94 PGx-evaluated patients, 91% had at least one variant allele reported and 20% had potential immediate implications on current medication use.
Due to the disease complexity and medication needs of diagnostic odyssey patients, there may be immediate benefit obtained from early life PGx testing for many and most will likely find benefit in the future. These results require conscientious interpretation and management to be actionable for all prescribing physicians throughout the lifetime of the patient.
我们将诊断过程曲折的患者在临床全外显子组测序（WES）检测中作为次要发现获得的药物基因组学（PGx）结果进行了特征分析，该检测是梅奥诊所个性化医疗诊所为他们提供的护理的一部分，以确定该队列的潜在益处和局限性。
94例患者的WES结果包括PGx变异的一个子集，若在患者中鉴定到，则为 ， 。从患者医疗数据中提取人口统计学、表型和用药信息。一名药剂师根据患者当前的用药情况解读PGx结果并提出治疗建议。
大多数患者年龄较小，中位年龄为10岁，疾病表现有神经系统受累（71%），且目前正在用药（90%）。在94例接受PGx评估的患者中，91%至少报告了一个变异等位基因，20%对当前用药有潜在的直接影响。
由于诊断过程曲折的患者疾病复杂且有用药需求，早期进行PGx检测可能会立即给许多患者带来益处，而且大多数患者未来可能会从中受益。这些结果需要审慎解读和管理，以便在患者的整个生命周期内对所有开处方的医生都具有可操作性。
