Clinical Pharmacogenetics Laboratory

Üsküdar University, Medical Genetics and Molecular Diagnosis Laboratory conducts genotyping studies to determine the pharmacogenetic profiles of individuals. Our laboratory has been designed in accordance with the studies to be carried out at the molecular level and a Medical Genetics and Molecular Diagnosis laboratory with the necessary machinery and equipment has been established.

In our laboratory, DNA/RNA isolation is performed from blood or any tissue sample taken from patients for genotyping. These samples can then be used for genotyping or determination of expression levels. For genotyping studies, conventional PCR (polymerase chain reaction, PCR), restriction enzyme restriction fragment analysis (RFLP) and sequence analysis studies are carried out. In addition, more sensitive analyzes are performed with Real-time PCR in our laboratory.

Genotyping studies complement phenotypic studies in some cases and lead them in others. By ensuring genotype-phenotype correlation, patients receive a more effective treatment program in a shorter time and with minimized side effects. Genotypic analysis of CYP2D6, CYP2C9, CYP2C19, CYP1A2 and CYP3A4 groups, 5HTT and COMT polymorphism are the main genotyped genes.

What does the Clinical Pharmacogenetics Laboratory do?

Pharmacogenetics within the scope of 'Personalized Treatment' examines the changes in people's responses to drugs due to variations in their genetic structure. Differences in genetic structures that are involved in the metabolism of drugs or are active in the functioning of the mechanism can affect the usefulness and/or harmful effects of the drug in some people. Today, some genetic tests can detect unnecessary drugs or drugs with high side effects in advance.

What is Pharmacogenetic Testing?

Pharmacogenetic tests are genetic tests that help predict the effects of drugs on the body and develop personalized treatments by examining the genetic structure of individuals. These tests aim to identify specific genetic variations associated with the metabolism, mechanism of action and side effects of drugs. Pharmacogenetic testing can help determine the most effective and safest treatment for the patient and can help minimize side effects. Today, two main methods are used in the treatment of diseases:

1. Trial and error method: The drug is administered until it takes effect.
2. Protocol Method: First the diagnosis is made. Drugs are given according to the decision scheme in the protocol.

Pharmacogenetic studies have two main applications in the clinic:

1. Evaluation of Response to Drugs: It is determined which patients will respond well to certain drugs and who will not. In this way, effective treatment processes are personalized.
2. Prevention of Side Effects: Patients in whom medicines may cause side effects are identified in advance. This reduces the risk of side effects and increases the safety of medicines.

Laboratory tests are used for these purposes. Therapeutic drug blood level monitoring (TDM) monitors the effects of drugs and determines genetic profiles. Phenotyping is also performed using "probe drugs". The science of pharmacogenetics predicts drug responses, interactions and side effects according to the genetic structure of patients and contributes to the development of a personalized treatment approach.

In our country, drug blood level measurements are limited and performed by non-specific methods. However, pharmacogenetics aims to improve the efficacy and safety of drug therapy by developing a personalized treatment approach. Advances in this field can contribute to better management of diseases and improve response to treatment.

For What Purposes Are Pharmacogenetic Tests Used?

Pharmacogenetic tests are genetic tests that help predict the effects of drugs on the body and develop personalized treatments by examining the genetic makeup of individuals. These tests are used for the following purposes:

Predicting Drug Response: Pharmacogenetic tests help determine whether a drug is appropriate for a person's genetic profile. Drugs may work differently in each individual and these tests can help predict how a drug will respond to a person's disease.

Adjusting Drug Dosage: Genetic differences between individuals can have an impact on the metabolism of medicines. Pharmacogenetic testing can be critical in determining the appropriate dose of a drug. Adjusting the dosage according to the individual's genetic profile can improve treatment efficacy and reduce side effects.

Reducing Side Effects: Side effects of some medicines can occur due to genetic variations in individuals. Pharmacogenetic testing can predict which side effects are at risk and help make treatment safer.

Examination of Treatment Resistance Cases: Some patients may be resistant to certain medicines. Pharmacogenetic testing can help identify the cause of this resistance and alternative treatment options can be suggested.

Evaluation of Drug Interactions: Pharmacogenetic testing can help assess how multiple drugs used at the same time will interact in the body. This is important for the safety and effectiveness of drug combinations.

Drug Development and Drug Selection: Pharmacogenetic studies are used in drug development processes and to determine whether new drugs are suitable for patients with specific genetic profiles. This can help design more targeted therapies.

Booklet: Personalized Treatment

Click here to download the booklet "Personalized Treatment; Clinical Pharmacogenetics, Genetically Appropriate Treatment Options".

TDM MOLECULE LIST
S.No	Active Ingredient	Drug Half-Life (t 1/2)(Hour-Day)	Therapeutic Interval	Alarm Level	Recommended Drug Use Sequence for TDM
1.	Alprazolam	12-15 hours	20-40	100 ng/ml	3
2.	Acomprosate	3-33 hours	250-700	1000 ng/ml	3
3.	Amisulpiride	12-20 hours	100-320	640 ng/ml	1
4.	Amitriptyline + Nortriptyline	10-28 hours + 18-44 hours	80-200	300 ng/ml	1
5.	Aripiprazole	60-80 hours	100-350	1 000 ng/ml	2
6.	Asenapine	13-39 hours	1-5	10 ng/ml	4
7.	Atomoxetine	2-5 hours	200-1000	2 000 ng/ml	3
8.	Bupropion + Hydroxybupropion	1-15 hours + 17-47 hours	850-1500	2 000 ng/ml	2
9.	Buspirone	1-5 hours	1-4	30 ng/ml	3
10.	Carbamazepine	10-20 hours	4-12	20 µg/ml	1
11.	Carbamazepine 10-11Epoxide	-	0.4-4	4 µg/ml	-
12.	Chlorpromazine	15-30 hours	30-300	600 ng/ml	2
13.	Citolopram	38-48 hours	50-110	220 ng/ml	1
14.	Clomipramine	16-60 hours	230-450	450 ng/ml	1
15.	Clonazepam	19-40 hours	4-80	100 ng/ml	3
16.	Clozapine+Norclozapine	12-16 hours	350-600	1 000 ng/ml	1
17.	DDTC_ME ( Disulfiram Diethylthiomethylcarbamate-methyl ester )	6-9 hours	270-310	500 ng/mL	3
18.	Diazepam	24-48 hours	100-2500	3000 ng/ml	4
19.	Donepezil	70-80 hours	50-75	75 ng/ml	2
20.	Duloxetine	9-19 hours	30-120	240 ng/ml	2
21.	Escitalopram	27-32 hours	15-80	160 ng/ml	2
22.	Fluoxetine	4-6 days	120-500	1 000 ng/ml	3
23.	Flupentixol	20-40 hours	0.5-5	15 ng/ml	2
24.	Fluphenazine	16 hours	1-10	15 ng/ml	1
25.	Fluvoxamine	21-43 hours	60-230	500 ng/mL	2
26.	Gabapentine	5-7 hours	2-20	25 µg/ml	3
27.	Haloperidol	12-36 hours	1-10	15 ng/ml	1
28.	Imipramine + Desimipramine	11-25 hours + 15-18 hours	175-300	300 ng/ml	1
29.	Lacosamide	10-15 hours	1-10	20 µg/ml	3
30.	Lamotrigine	14-104 hours	1-15	20 µg/ml	2
31.	Levetiracetam	6-8 hours	20-40	50 µg/ml	4
32.	Lorazepam	12-16 hours	30-100	300 ng/ml	4
33.	Maprotiline	20-58 hours	75-130	220 ng/ml	2
34.	Memantine	60-100 hours	90-150	300 ng/ml	3
35.	Metformin	6.2 hours	1-2	5 µg/ml	-
36.	Methylphenidate	2 hours	6-26	50 ng/ml	3
37.	Mianserine	14-33 hours	15-70	140 ng/ml	3
38.	Milnacipran	5-8 hours	100-150	300 ng/ml	2
39.	Mirtazapine	20-40 hours	30-80	160 ng/ml	2
40.	Moclobemide	2-7 hours	300-1000	2 000 ng/ml	3
41.	Modafinil	10-12 hours	100-1700	3 400 ng/ml	3
42.	Naltrexone + 6β-naltrexol	2-5 hours + 7-13 hours	25-100	200 ng/ml	2
43.	Olanzapine	30-60 hours	20-80	100 ng/ml	1
44.	Opipramol	11 hours	50-500	1000 ng/ml	3
45.	Oxcarbamazepine (Oxcarbazepine 10-hydroxycarbazepine)	10-20 hours	10-35	40 µg/ml	2
46.	Paliperidone (9-hydroxyrisperidone)	17-23 hours	20-60	120 ng/ml	2
47.	Paroxetine	12-44 hours	20-65	120 ng/ml	3
48.	Pimozide	23-43 hours	15-20	20 ng/ml	3
49.	Pramipexole	8-12 hours	0.4-1.2	15 ng/ml	3
50.	Pregabaline	5-7 hours	2-5	10 µg/ml	3
51.	Quetiapine	6-13 hours	100-500	1 000 ng/ml	2
52.	Reboxetine	13-30 hours	60-350	700 ng/ml	3
53.	Risperidone + 9-hydroxy-risperidone	2-4 hours + 17-23 hours	20-60	120 ng/ml	2
54.	Rivastigmine	1-2 hours	8-20	40 ng/ml	3
55.	Sertindole	55-90 hours	50-100	200 ng/ml	2
56.	Sertraline	22-36 hours	10-150	300 ng/ml	2
57.	Sulpiride	8-14 hours	200-1000	1 000 ng/ml	2
58.	Tianeptine	2.5-3 hours	30-80	160 ng/ml	3
59.	Topiramate	19-23 hours	2-10	16 µg/ml	3
60.	Trazodone	4-11 hours	700-1000	1 200 ng/ml	2
61.	Trifluoperazine	-	1-2.3	-	-
62.	Venlafaxine + O-desmethylvenlafaxine (ODV)	14-18 hours + 10-17 hours	100-400	800 ng/ml	2
63.	Valproic acid	17-30 hours	50-100	120 µg/ml	1
64.	Vortioxetine	57-66 hours	10-40	80 ng/ml	2
65.	Ziprasidone	4-8 hours	50-200	400 ng/ml	2
66.	Zolpidem	1-4 hours	80-160	320 ng/ml	4
67.	Zuclopenthixol	15-25 hours	4-50	100 ng/ml	3