The contribution of pharmacogenetics in the treatment of neurological disorders. - Synlab

The contribution of pharmacogenetics in the treatment of neurological disorders.

Published by Synlab on 22 May 2019
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Up to 70% of patients with neurological diseases do not respond to drug therapy and up to 75% have adverse effects.

Over 400 million people are affected by mental or behavioral disorders worldwide. These disorders rank fifth in the top ten leading causes of disability according to the World Health Organization (WHO).


Mental and behavioral changes have a considerable impact on individuals. There are several mental disorders with varied manifestations, characterized by a combination of thoughts, perceptions, emotions, and abnormal behaviors that may last a few weeks or persist throughout life. Depression, anxiety, epilepsy, and psychosis are some of the major mental disorders.


According to the WHO, approximately 300 million people suffer from depression worldwide, being one of the most known and expressive neurological pathologies. The wide variety of medications available on the market poses a challenge to the physician in charge of choosing the most appropriate therapy for each patient.


On the other hand, the psychological and drug therapies for anxiety, a neurological disorder with a high prevalence in the world population, are effective in the short term, but they lose effectiveness in a significant percentage of patients in the long term.


Another neurological disorder of great impact is epilepsy. Ensuring therapeutic efficacy is critical, as seizures can cause neurobiological, cognitive and psychological consequences. The antiepileptic medication should be individualized according to the epileptic syndrome, type of crisis, patient age, presence of other pathologies, interactions with other medications, among other factors.


In the case of psychosis, which has a prevalence of 0.85% in the world population, a customized clinical therapy is required, combining medication with psychological therapy according to the origin of the psychotic disorder.


According to Ohio Medical School, up to 70% of the patients in the USA do not respond to the therapy, and up to 75% of the users reported adverse effects to psychiatric medications.


Faced with this challenge, pharmacogenetics has become an important tool for choosing a safer and more efficient drug therapy.


Pharmacogenetics studies how the genetic difference among the individuals can affect drug metabolism, since the variation in the human genome is one of the factors responsible for modulating the individual reaction to the medications.


The genes of the cytochrome P450 family (CYP450), responsible for the protein synthesis of the drug-metabolizing enzymes, show polymorphisms capable of modeling the phenotypic profile of each individual, resulting in different patterns of drug metabolism, categorized as the following:


1) Poor metabolizers – individuals with decreased or absence of the metabolizing enzyme;
2) Intermediate metabolizers – the standard metabolism to the majority of the population; and
3) Rapid metabolizers – a profile resulting from an increase in enzymatic production.


SYNLAB laboratory offers, among all its innovative tests, a test capable of analyzing the genotypic profile of the family of genes that are related to the expression of the CYP450 enzymes. The exams relate the patient’s genetic profile to the main medications used in medicine for the treatment of neurological disorders. The exams are divided into the following panels:  FG NEURO Depression FG NEURO AnxietyFG NEURO Epilepsy and  FG NEURO Psychosis.


The individualized drug metabolism profile information for each patient helps in choosing a safer therapy, in addition to a more adjusted dose, which may contribute to a greater efficiency of the therapy.


SYNLAB offers a full range of medical laboratory services for practising doctors, clinics and the pharmaceutical industry. The SYNLAB Group is the uncontested leader on the European market for human medicine laboratory services.


Bibliographical References

  1. B S Shastry. Pharmacogenetics and the concept of individualized medicine. The Pharmacogenomics Journal (2006) 6:16–21.
  2. Stuart A. Scott. Personalizing medicine with clinical pharmacogenetics. Genetics on Medicine (2011) 13(12):987-95.
  3. Gardner KR, et al. The Potential Utility of Pharmacogenetic Testing in Psychiatry. Psychiatry Journal Volume 2014, Article ID 730956.
  4. Prows CA, et al. Drug-Metabolizing Enzyme Genotypes and Aggressive Behavior Treatment Response in Hospitalized Pediatric Psychiatric Patients. Journal of Child and Adolescent Psychopharmacology (2009) 19(4):385-94.
  5. Metzger IF, et al. Farmacogenética: princípios, aplicações e perspectivas. Medicina (Ribeirão Preto) (2006) 39 (4): 515-21.
  6. Gillman PK. Tricyclic antidepressant pharmacology and therapeutic drug interactions updated. British Journal of Pharmacology (2007) 151:737–748.
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