Pharmacogenetic Testing of Patients With Unwanted Adverse Drug Reactions or Therapy Failure

Study Overview
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Brief Summary
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Genetic makeup of a patient influences the efficacy and safety profile of a drug. This study is to summarize individual cases, where Pharmacogenetics (PGx) has been applied during pharmaceutical care. The primary objective is the compilation of case reports, where pharmacogenetic testing is applied to determine the hereditable component of the patient's susceptibility to experience therapy failure and/or adverse drug reactions. The experience with the compiled cases will be basis for the development of a reliable standard of procedure for pharmacogenetic testing in the community pharmacy. The cases will be supplemented with information on additional Parameters reported in the literature to affect efficacy or safety of the respective drug.

Detailed Description
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Genetic makeup of a patient influences the efficacy and safety profile of a drug. This study is to summarize individual cases, where Pharmacogenetics (PGx) has been applied during pharmaceutical care. Health-related data of patients experiencing therapy failure (TF) or adverse drug reaction (ADR) is collected and will then be supplemented with pharmacogenetic testing during pharmaceutical care in a study pharmacy. The patient data (diagnoses, medications and results of pharmacogenetic testing) is harmonized in order to generate a compilation of case reports. The primary objective is the compilation of case reports, where pharmacogenetic testing is applied to determine the hereditable component of the patient's susceptibility to experience therapy failure and/or adverse drug reactions. The experience with the compiled cases will be basis for the development of a reliable standard of procedure for pharmacogenetic testing in the community pharmacy. The cases will be supplemented with information on additional Parameters reported in the literature to affect efficacy or safety of the respective drug.

Official Title
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Pharmacogenetic Testing of Patients With Unwanted Adverse Drug Reactions or Therapy Failure

Conditions
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Adverse Drug Reaction, Therapy Failure

Intervention / Treatment
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* Diagnostic Test: Buccal swab
* Diagnostic Test: EDTA Blood sample (4.9mL)
* Diagnostic Test: Serum sample (7.5mL)
* Other: communication of test results
* Other: unstructured interview


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: New medication with known PGx association (preemptive) Current medication with observation of adverse drug reactions probably linked to drugs with known PGx association (reactive) Current medication with observation of therapy failure probably linked to drugs with known PGx association (reactive) Current and/or new medication and a family history of adverse drug reactions/therapy failure probably linked to drugs with known PGx association Signed informed consent Exclusion Criteria: Insufficient German knowledge Not able to personally visit to the study pharmacy

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Diagnostic Test: Buccal swab|Pharmacogenetic panel testing is conducted by Stratipharm with the DNA of the buccal swab. TaqMan® polymerase chain reaction is proceeded to express the genetic information. Stratipharm is a product offered by Humatrix Aktiengesellschaft (AG). It consists of a laboratory analysis of approximately 100 pharmacological relevant genetic variations (polymorphisms) in over 30 different genes, which code for transport proteins, metabolizing enzymes, or drug targets.|
|Diagnostic Test: EDTA Blood sample (4.9mL)|Genetic testing of potentially relevant genetic variants using the DNA extracted from the EDTA blood sample.|
|Diagnostic Test: Serum sample (7.5mL)|blood sample to determine the actual levels of the compound in patients on medication assumed to be associated to an observed ADR (phenotype).|
|Other: communication of test results|Certified study pharmacist evaluates and communicates clinically relevant test results to the subject and to the responsible physician|
|Other: unstructured interview|One and six months after the communication of test results, the study center will make a phone call to the patient for an unstructured interview in order to gather information about potential outcomes|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| pharmacogenetic profile | genotyping by laboratory analysis of approximately 100 pharmacological relevant genetic variations (polymorphisms) in over 30 different genes | single time point assessment at Baseline (=Day 0) | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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pharmacogenetics, single nucleotide polymorphism, absorption, distribution, metabolism and excretion (ADME), genotyping, pharmacogenetic testing