Clinical recommendations in pharmacogenetics

DNA kit adntro box

Tired of trial and error?
Discover how your body metabolizes medicines, get personalized recommendations and much more with the most complete DNA kit.

Use the coupon BLOG10

Already genotyped? Upload your RAW DNA for free!

Did you know that nowadays, there are many drugs for which a genetic study is recommended and even mandatory?

In recent years, thanks to the development of genomic techniques for massive sequencing and analysis with new bioinformatics tools, many biomarkers have been identified that are associated with how our body reacts to drugs. This is where we must define the concepts of pharmacokinetics and pharmacodynamics. Pharmacokinetics is the process of absorption, distribution, metabolism and excretion (ADME) of a drug and pharmacodynamics refers to the mechanism of action of a drug in the body.

Differences between pharmacokinetics and pharmacodynamics.
Differences between pharmacokinetics and pharmacodynamics..

Many of these processes can be altered or function differently depending on our genetic makeup. This can be directly related to a better response to the same drug in two different people or, in other words, different efficacy in different people. It can also be associated with adverse effects, which may appear in some individuals and not in others.

This is due to the fact that the genes that synthesize the proteins that act during these processes in the organism may present variants, which may even be polymorphisms (genetic variants of normality) and which may cause a differential functioning of these processes. When we refer to the field of pharmacogenetics, the genes mainly associated with drug response are those involved in the ADME processes of the organism, such as the genes of the cytochrome P450 enzyme complex. The genes of this complex are those that are mainly associated with the metabolism of most of the drugs currently used. Within this group we find the genes:

Genes of the P450 complex (cytochrome P450) associated with pharmacogenetic response.
Genes of the P450 complex associated with pharmacogenetic response.

But in addition, there are many other genes that are also associated with drug response: DPYD, NUTD15, HLA-B, CFTR, G6PD, TPMPT, etc....

Personalized medicine in a clinical setting

For this reason, many clinical consultations are starting to include this type of pharmacogenetic studies in those patients who are going to start treatment with a certain drug, for which it is known that there is a clinical recommendation. As we have commented in a previous blog, we know that the drugs used in the field of oncology and neurology are those for which there are a greater number of markers and clinical recommendations.

In order to standardize and normalize clinical recommendations, the international consortium for the clinical implementation of pharmacogenetics (CPIC) has developed guidelines for recommendations to facilitate their applicability in clinical routine. These guidelines are based on a literature review, creation of guidelines, publication in high impact journals, using standardized terminology. For this reason, nowadays they are the most recognized and widespread pharmacogenetic guidelines worldwide, being the one used in most laboratories and diagnostic centers in which pharmacogenetic studies are included.

Pharmacogenetics in ADNTRO

At ADNTRO we have just published your pharmacogenetic results based on CPIC recommendations for 27 different drugs. You can consult this list at the end of the article. However, this number may vary between users according to the SNPs that we have been able to analyze individually in each of the samples.

An example of one of the drugs we have included is Ibuprofen, a widely used drug, which is included in the Nonsteroidal Anti-inflammatory Drugs (NSAIDs). Ibuprofen acts by preventing the synthesis of prostaglandins and other prostanoids, by inhibiting the cyclooxygenase involved in inflammatory processes. Therefore, its main use is for the symptomatic treatment of pain and inflammation of traumatic or degenerative origin. For many people it is unknown that there is a gene associated with the response to ibuprofen, the CYP2C9 gene, which as we have shown in the previous table, is part of the P450 enzyme complex, and metabolizes some drugs including ibuprofen. For this reason, there are alleles associated with normal, intermediate or slow metabolism in this gene when it comes to ibuprofen.

Types of metabolizers - pharmacogenetics

Types of metabolizers - pharmacogenetics
Types of metabolizers that exist at the genetic level in the area of pharmacogenetics. Not all types of metabolizers exist for all drugs.

The determination of these alleles will be associated with the clinical recommendation of the dose with which ibuprofen treatment should be initiated in a person. The recommendations that would be made in each case using ibuprofen as a concrete example are summarized below:

  • CYP2C9 Normal metabolizer: Start treatment with the recommended dose.
  • CYP2C9 Intermediate metabolizerThere are two recommendations depending on the enzymatic activity:
    • Recommendation 1Start treatment at the recommended dose. According to the prescribing information, use the lowest effective dose for duration compatible with each patient's treatment goals.
    • Recommendation 2Start treatment with the recommended dose. Increase the dose up to the maximum recommended dose clinical effect with caution. According to the prescribing information use the lowest effective dose for duration compatible with the patient's goals. Carefully monitor adverse events such as blood pressure and renal function during treatment.
  • CYP2C9 Slow metabolizer: Initiate treatment with 25-50% of the lowest recommended starting dose. Adjust dose to clinical effect or to 25-50% of the maximum recommended dose with caution. Based on the prescribing information, use the lowest effective dose for the shortest possible time, consistent with each patient's treatment goals. The dose should not be increased until steady state has been reached (5 days for ibuprofen). Carefully monitor adverse effects such as blood pressure and renal function during treatment. Alternatively, consider alternative therapy not metabolized by CYP2C9 or not significantly affected by CYP2C9 genetic variants.

Log in and check your personalized pharmacogenetic recommendations within the health section.

List of drugs analyzed by ADNTRO

Amitriptyline, Atazanavir, Azathioprine, Celecoxib, Citalopram, Clomipramine, Desflurane, Doxepin, Efavirenz, Enflurane, Escitalopram, Flurbiprofen, Halothane, Ibuprofen, Imipramine, Isoflurane, Lornoxicam, Meloxicam, Methoxyflurane, Piroxicam, Sertraline, Sevoflurane, Succinylcholine, Tacrolimus, Tenoxicam, Trimipramine, Voriconazole.

In addition to the above-mentioned clinical recommendations, with the dna analysis From ADNTRO we provide information about your genetic risk for increased toxicity or decreased efficiency after taking the following drugs: Hydrocortisone, Chlorpromazine, Azithromycin, Fluoxetine, Amoxicillin, Atorvastatin, Ziprasidone, Amisulpride, Salbutamol, Aspirin, Haloperidol, Propanolol, Fluconazole, Acetaminophen (Paracetamol), Morphine, Aripiprazole, Erythromycin, Diazepam, Clozapine, Risperidone, Olanzapine, Quetiapine, Metamizole, Trifluoperazine, Trifluridine, Dexamethasone, Prednisolone.

Share this post

More interesting articles

DNA kit adntro box

Tired of trial and error?
Discover how your body metabolizes medicines, get personalized recommendations and much more with the most complete DNA kit.

Use the coupon BLOG10

Already genotyped? Upload your RAW DNA for free!

Other topics

Share this post:

Facebook
Twitter
LinkedIn
WhatsApp
E-mail

Get a 10% discount!

An Investment
for all Life

DNA test with saliva sample
More complete analysis
Ancestry, Nutrigenetics, Traits and Diseases,...
Already genotyped?

If you have taken a test with 23andMe, MyHeritage, Ancestry.com and others, you can upload your DNA for free at 23andMe, MyHeritage, Ancestry.com and others.

Digestive Medicine

For digestive clinics or physicians. Provides information on the genetic predisposition to develop diseases of the digestive system- such as Chron's, Inflammatory Bowel Disease among many others - as well as intolerances. This supports a possible early diagnosis and prevention. The results of this study are very positive, allowing for more precise and personalized interventions to improve the quality of life of the patients.

nutrition

Cardio

The applicability and importance of the PRSs in cardio is endorsed by the American Heart Association (AHA). The applicability of PRS is made possible thanks to this tool that helps in the cardiovascular disease prevention: identifying patients with a higher genetic risk of developing conditions such as diabetes, thromboembolism, hypercholesterolemia, and coronary artery disease (CAD), among others, enabling early interventions and preventive measures to improve patients' cardiovascular health.

integrate genetics into your practice

Biobanks, Pharmacies and CROs

Access and consultation of genetic data relevant to health and pharmacology. Thanks to this tool, it is possible to know the predisposition of patients to suffer adverse effects and what dose adjustments are necessary for more than 150 drugs, thus improving safety, efficacy and treatment personalization. This information is backed by Stanford University and approved by the FDA and gives solutions for biobanks, and research organizations.

integrate genetics into your practice

Dermatology

Specialized for dermatological clinics, this service provides information on dermatogenomics: skin sensitivities, efficacy of various topical and oral treatments, essential vitamins and minerals for skin health, dermatological conditions, skin types and more data to help you customize your skin care recommendations.

integrate genetics into your practice

Fitness and wellness centers

Genetic analysis allows for the design of personalized training programs that, taking into account genetic characteristics focused on the world of sports, such as muscle fiber types and predisposition to injuries, maximize performance and reduce the risk of injuries. Additionally, by considering genetic factors related to sleep and longevity, recommendations can be offered for a healthy and sustainable lifestyle.

integrate genetics into your practice

Nutri & Fitness

The practical application of nutrigenomics allows you to differentiate yourself from the competition by offering your patients personalized and accurate information on genetic predispositions to food intolerances.The results of this approach allow the design of dietary plans completely adapted to the genetic profile of the patient. This approach makes it possible to design dietary plans completely adapted to the individual needs maximizing results and providing an exceptional and differentiated service in the field of nutrition.

integrate genetics into your practice

Neuro

Very useful for psychiatric clinics and psychological clinics. Provides information on the genetic predisposition to develop nervous system diseases and mental disorders, such as Alzheimer's, Parkinson's, schizophrenia, bipolar disorder and OCD, among others. This supports a possible early diagnosis and prevention of these conditions, allowing for more precise and personalized interventions for improve the quality of life of patients.

integrate genetics into your practice

Start a unique journey inside your DNA

Kind regards from ADNTRO team