Department of Depression and Anxiety, Aarhus University Hospital Psychiatry, Aarhus, Denmark.
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Clin Transl Sci. 2020 Jul;13(4):798-806. doi: 10.1111/cts.12768. Epub 2020 Mar 29.
Pharmacogenetics (PGx) aims to improve drug therapy using the individual patients' genetic make-up. Little is known about the potential impact of PGx on the population level, possibly hindering implementation of PGx in clinical care. Therefore, we investigated how many patients use actionable PGx drugs, have actionable genotypes or phenotypes and which patients could benefit the most of PGx testing. We included PGx recommendations from two international PGx consortia (Clinical Pharmacogenetics Implementation Consortium (CPIC) and Dutch Pharmacogenetics Working Group (DPWG)). Using data from publically accessible sales information drawn from the Danish Register of Medicinal Product Statistics (MEDSTAT), we identified the number of users of actionable prescription PGx drugs among the total Danish population in 2017. We estimated actionable genotypes or phenotypes based on reported frequencies from literature. We identified 49 drug-gene interactions related to 41 unique prescription drugs. The estimated median frequency of actionable genotypes or phenotypes among prescription drug users was 25% (interquartile range 7-26%). Six of 41 drugs were used more than twice as much in women. Actionable PGx drugs were most frequently used by 45-79 year old patients (62%), followed by 25-44 year old patients (18%). Almost half of the actionable PGx drugs (19/41) were psychotropics (i.e., antidepressants, antipsychotics, or psychostimulants). PGx testing can have a substantial impact on the population, as one in four prescription drug users has an actionable genotype or phenotype and could thus benefit from PGx testing. We advocate for prospective panel-based PGx testing at the time of the first PGx drug prescription ("as needed"), with PGx results ready prior to start of the first, and all future, therapies.
药物遗传学（PGx）旨在利用个体患者的基因构成来改善药物治疗。对于 PGx 对人群水平的潜在影响知之甚少，这可能阻碍了 PGx 在临床护理中的实施。因此，我们研究了有多少患者使用可操作的 PGx 药物、具有可操作的基因型或表型，以及哪些患者最能从 PGx 测试中受益。我们纳入了来自两个国际 PGx 联盟（临床药物遗传学实施联盟（CPIC）和荷兰药物遗传学工作组（DPWG））的 PGx 建议。使用从丹麦药品统计登记处（MEDSTAT）公开获得的销售信息数据，我们确定了 2017 年丹麦总人口中使用可操作处方 PGx 药物的人数。我们根据文献报道的频率估计可操作的基因型或表型。我们确定了 49 种与 41 种独特处方药相关的药物-基因相互作用。处方药使用者中可操作基因型或表型的估计中位数频率为 25%（四分位距 7-26%）。在 41 种药物中，有 6 种药物在女性中的使用量是男性的两倍多。45-79 岁患者（62%）是最常使用可操作 PGx 药物的人群，其次是 25-44 岁患者（18%）。近一半的可操作 PGx 药物（19/41）是精神类药物（即抗抑郁药、抗精神病药或精神兴奋剂）。PGx 测试可以对人群产生重大影响，因为四分之一的处方药使用者具有可操作的基因型或表型，因此可以从 PGx 测试中受益。我们提倡在首次开具 PGx 药物处方时（“按需”）进行前瞻性基于面板的 PGx 测试，并在开始首次治疗之前和所有未来治疗之前准备好 PGx 结果。
