Genotyping of Patients with Adverse Drug Reaction or Therapy Failure: Database Analysis of a Pharmacogenetics Case Series Study

Figures & data

Figure 1 Overview about the 6-steps study procedure of the pharmacogenetics (PGx) case series. Adapted from Stäuble CK, Jeiziner C, Bollinger A et al. A Guide to a Pharmacist-Led Pharmacogenetic Testing and Counselling Service in an Interprofessional Healthcare Setting. Pharmacy. 2022;10(4):86. Creative Commons.²⁰

Notes: Step 1 – Patient referral: Patients are selected by physicians (general physician or medical specialist) and referred to the appropriate participating study pharmacy (ambulatory setting or hospital setting). Step 2 – First patient visit: After patients have given their written informed consent, further necessary data is collected (eg, the medication history, self-medication data, family history). A buccal swab as well as blood samples are collected. Step 3 – PGx analysis: The buccal swab sample is shipped to the commercial provider Stratipharm^® (humatrix AG, Pfungstadt, Germany), where the PGx panel test is conducted. Additional genetic variants are tested with the blood samples in the Biopharmacy Laboratory of the University of Basel. Step 4 – Medication review: The PGx test results (available after 1–3 weeks) are evaluated, in particular in context of the previously suspected drugs, for potential DGI. A medication review including PGx information is conducted. If available, other factors like DDI, adherence or comorbidities are considered. Step 5 – Second Patient visit: PGx testing results and compiled recommendations for medication optimization are explained to the patient. A written report is forwarded to the treating physicians. Step 6 – Follow-up: After 6 months, a follow-up interview is conducted via telephone to assess the implementation of medication changes based on PGx information.

Abbreviations: PGx, pharmacogenetics; DGI, drug-gene-interaction; DDI, drug-drug-interaction.

Figure 2 Number of DGI suspicions (≥ 5) per substance group, categorized according to the 3rd level of therapeutic and pharmacological subgroup of the ATC classification.

Notes: A02B: Drugs for peptic ulcer and gastro-oesophageal reflux disease; A07E: Intestinal anti-inflammatory agents; A10B: Blood glucose lowering drugs, excl. insulins; C07A: Beta blocking agents; C08C: selective calcium channel blockers with mainly vascular effects; C09C: Angiotensin-II-Receptor Blockers (ARBs), plain; C10A: Lipid modifying agents, plain; H02A: Corticosteroids for systemic use, plain; L04A: Immunosuppressants; M01A: Anti-inflammatory and antirheumatic products, non-steroids; N02A: Opioids; N02B: Other analgesics and antipyretics; N03A: Antiepileptics; N05A: Antipsychotics; N06A: Antidepressants; N06B: Psychostimulants, agents used for ADHD and nootropics; R05D: Cough suppressants, exclusive combinations with expectorants.

Abbreviations: ATC, anatomical therapeutic chemical; DGI, drug-gene-interaction.

Figure 3 Number of confirmed DGI in proportion to number of suspicions for DGI (cf Figure 2), categorized according to the 3rd level of therapeutic and pharmacological subgroup of the ATC classification.

Notes: A02B: Drugs for peptic ulcer and gastro-oesophageal reflux disease; A07E: Intestinal anti-inflammatory agents; A10B: Blood glucose lowering drugs, excl. insulins; C07A: Beta blocking agents; C08C: selective calcium channel blockers with mainly vascular effects; C09C: Angiotensin-II-Receptor Blockers (ARBs), plain; C10A: Lipid modifying agents, plain; H02A: Corticosteroids for systemic use, plain; L04A: Immunosuppressants; M01A: Anti-inflammatory and antirheumatic products, non-steroids; N02A: Opioids; N02B: Other analgesics and antipyretics; N03A: Antiepileptics; N05A: Antipsychotics; N06A: Antidepressants; N06B: Psychostimulants, agents used for ADHD and nootropics; R05D: Cough suppressants, exclusive combinations with expectorants.

Abbreviations: ATC, anatomical therapeutic chemical; DGI, drug-gene-interaction.

Table 1 Number of DDI Caused by Substance Groups, Categorized According to the 3rd Level Therapeutic and Pharmacological Subgroup of the ATC Classification

ATC-Group, 3rd Level	DDI (N)
A02B: DRUGS FOR PEPTIC ULCER AND GASTRO-OESOPHAGEAL REFLUX DISEASE	6
C01E: OTHER CARDIAC PREPARATIONS	3
C07A: BETA BLOCKING AGENTS	3
C09A: ACE INHIBITORS, PLAIN	4
H02A: CORTICOSTEROIDS FOR SYSTEMIC USE, PLAIN	4
M01A: ANTIINFLAMMATORY AND ANTIRHEUMATIC PRODUCTS, NON-STEROIDS	12
N02A: OPIOIDS	8
N03A: ANTIEPILEPTICS	3
N05A: ANTIPSYCHOTICS	18
N05B: ANXIOLYTICS	4
N06A: ANTIDEPRESSANTS	53
N06B: PSYCHOSTIMULANTS, AGENTS USED FOR ADHD AND NOOTROPICS	3

Abbreviations: ATC, anatomical therapeutic chemical; DDI, drug-drug-interaction.

Stäuble CK, Jeiziner C, Bollinger A, et al. A guide to a pharmacist-led pharmacogenetic testing and counselling service in an interprofessional healthcare setting. Pharmacy. 2022;10(4):86. doi:10.3390/pharmacy10040086

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Data Sharing Statement

The patient data including genetic data presented in this study are available on request from the corresponding author. The data are not publicly available for ethical and privacy reasons.