III

Pharmacogenetic Assessment
藥物遺傳學評估

Individual responses to medications are complex; the same dose may cure one patient while causing severe side effects in another. Pharmacogenomics (PGx) is the science that studies how your unique genetic makeup determines your body's ability to metabolize, transport, and respond to drugs. By analyzing genetic variations in key metabolic pathways, PGx provides scientific evidence for clinical practice, aiming to minimize drug toxicity and maximize efficacy.

个体对药物的反应错综复杂;同样的剂量可能治愈一位患者,却在另一位患者身上引发严重的副作用。药物基因组学 (PGx) 正是一门研究您的独特基因图谱如何决定身体代谢、转运和响应药物能力的科学。PGx 通过分析关键代谢通路中的基因变异,为临床提供了科学依据,旨在最大程度降低药物毒性并提高疗效。

Reference: Levels of Evidence
證據等級參考

Interactive Guide (互動指南)
Level 2

Actionable PGx (可採取行動)

The label discusses a dose adjustment, contraindication or alternate drug recommendation for patients with a particular genotype. However, the label does not strictly require or recommend genotype testing before using the drug. 標籤討論了針對特定基因型患者的劑量調整、禁忌症或替代藥物建議。然而,標籤並未嚴格要求或建議在使用藥物前進行基因型檢測。 *The criteria for Actionable PGx were updated in August 2024.*

Clinical Implication (臨床意義)

If Tested: Adjust dose or drug if genotype is known.
若已檢測:如果基因型已知,請調整劑量或藥物。

High Priority Clinical Alerts
高優先級臨床警示

These results indicate a non-standard phenotype that likely requires dosage adjustment or alternative medication selection. 這些結果表明存在非標準表型,可能需要調整劑量或選擇替代藥物。

Gene / Genotype
基因/基因型
Phenotype
表型
Evidence Level
證據等級
Clinical Implication
臨床意義
VKORC1
c.-1639G>A (A/A)
High Promoter Activity (高啟動子活性)
Warfarin Sensitive (華法林敏感)
FDA Actionable PGx
CPIC Level A

Greatly increased sensitivity to warfarin. Significantly lower dose requirements expected.
對華法林敏感性顯著增加。預計需要顯著降低劑量。

Source: CPIC, DPWG, FDA
ABCG2
rs2231142 G/T
Decreased Function (功能降低)
Decreased Function (功能降低)
FDA Actionable PGx
CPIC Level A

Reduced transport activity. Increased exposure to Rosuvastatin (statin myopathy risk) and Allopurinol.
轉運活性降低。瑞舒伐他汀(他汀類藥物肌病風險)和別嘌醇的暴露量增加。

Source: CPIC, DPWG
UGT1A1
*1/*28
Decreased Function (功能降低)
Intermediate Metabolizer (中間代謝者)
FDA Actionable PGx
CPIC Level A

Reduced glucuronidation. Increased risk of toxicity with Irinotecan and Atazanavir (jaundice).
葡萄糖醛酸化減少。伊立替康和阿扎那韋(黃疸)的毒性風險增加。

Source: CPIC, DPWG, FDA
CYP3A5
*1/*3
Functional / Non-functional
Intermediate Metabolizer (中間代謝者)
FDA Actionable PGx
CPIC Level A

Expresser of CYP3A5. Requires higher starting doses of Tacrolimus compared to non-expressers (*3/*3).
CYP3A5 表達者。與非表達者 (*3/*3) 相比,需要更高的他克莫司起始劑量。

Source: CPIC, DPWG
Important Note on Interpretation (解讀重要提示)

Genotypes are determined based on specific variant positions detected in the WGS data. "Indeterminate" results may occur when data is unphased (it is unclear which chromosome variants are on). Always consult with a pharmacist or genetic counselor before making changes to medication based on this report.
基因型是根據 WGS 數據中檢測到的特定變異位置確定的。「不確定」結果可能發生在數據未定相時(不清楚變異位於哪條染色體上)。在根據本報告更改藥物之前,請務必諮詢藥劑師或遺傳諮詢師。