Neurology and pharmacogenetics

Pharmacogenetic analysis for Neurology/Psychiatry

Adverse Drug Reaction (ADR) is one of the most common causes of deaths worldwide. It also causes 50 deaths out of 1000 patients in India. These statistics highlight the importance of correct drugs for the treatment. This is where Pharmacogenetics plays an important role.

What is pharmacogenetics?

Pharmacogenetics is the study of inherited genetic differences in drug metabolism which can affect individual responses to drugs, both in terms of therapeutic effect as well as adverse effects.

Why pharmacogenetics?

In a last few years, importance of pharmacogenetics has increased tremendously in medical practice. This testing particularly benefits psychiatric patients as the drugs and medications suggested in the treatments can lead to variety of side-effects. The use of pharmacogenetic screening can help the expert to design psychotropic treatments and make informed decisions which prove to be very useful most of the times.

Many cases and studies have been published in recent times which prove the positive results in the patients. Along with the better outcome, genetic testing also helps to decrease the medical costs. Recently, many studies have been published demonstrating improved patient outcomes and decreased healthcare costs for psychiatric patients who utilize genetic testing.

The very first genotyping test used in psychiatry was Roche’s AmpliChip CYP450 test. It received clearance from FDA in December 2004.

The risk of adverse drug reaction is more in children and adolescents who have metabolic disorders as their system finds it hard to break down the new elements in it.

Pharmacogenetics is important in neurology / psychiatrics because –

  • It gives an insight of patient’s metabolic response
  • Prescribes surer, safer and targeted drug therapy
  • Promotes avoidance of Over-dose/ Under-dose
  • Minimizes Adverse Drug Reaction (ADR)
  • Eliminates trial and error in therapy
  • Offers optimum therapeutic response
  • It’s an affordable and once in a life-time test
  • It protects doctor from medico-legal complications

It is a common belief that high-end medical tests only prescribe equally high-end and expensive treatments. However, it is not the case; pharmacogenetic screening identifies the most effective course of conventional treatments and also suggests equally effective alternate options.

The widespread application and utility of pharmacogenetics in neurology/ psychiatry will only keep increasing along with its knowledge and understanding. With continuous research, it is very vital that medications and drugs will get more narrowed down on the basis of their effectiveness to the patients.

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Cardio diabetics and Pharmacogenetics

On 2nd July 2008, David Belk, 50, director of a construction firm died of brain hemorrhage. He headed the ball during a veterans’ soccer match. Doctor said that even if he would have been taken to the hospital immediately, he wouldn’t have been saved! So what lead to his death? Mr. Belk, father of two, had a heart pacemaker fitted ten years earlier and was on oral warfarin for anticoagulation which can lead to weakening of blood vessels in the head.
Excessive anticoagulation could have been avoided by Pharmacogenetic tests.

From the above case, you must have realized how important is it to know that which drugs suit our genetic makeup and which don’t.

When we tend to get a common cold or fever, more often than not, we take some medicines on our own without any clinical supervision. Very little do we know how harmful this practice is. Recently, genetic studies have discovered that medicines don’t always work the same way for everyone and could even be fatal to some.

The Indian Pharmacopoeia Commission expressly recognizes that genetic make-up of an individual can impact drug metabolism by as much as 6 to 8 fold and therefore can cause life threatening side effects.

A part of it is genetics and through pharmacogenetics one can learn how you respond to certain medications. The results range from whether the drugs are beneficial, need a different dose due to sensitivity and adverse effects, or even have increased risk for other conditions.

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Pharmacogenetics provides personalized drug therapy depending on your genetic makeup, thus maximizing the chances of getting the proper treatment and limiting adverse effects of drugs.

Cardio Diabetics

If you or anyone you know is undergoing a treatment for any cardiovascular disease, it’s advisable to take help of pharmacogenetics. It can help to take well-informed course of treatment for the cardiovascular cases.

This case study will help you to see how pharamacogenetics tests helped a cardiovascular patient.

A 45-year-old man was diagnosed with acute inferior myocardial infarction and underwent emergent coronary angiography (CAG). Two bare-metal stents were deployed in the right coronary artery. After the procedure, antiplatelet therapy with 75 mg Clopidogrel daily was given. However, stent thrombosis occurred three times and he underwent repeat interventions. To investigate the cause of repeated stent thrombosis, the platelet function was measured. The result showed that he did not achieve an adequate antiplatelet effect.

Know the right medications for you!

  1. Get a genetic test to determine your metabolic status. It’s important to be aware of the type of metabolizer you are for each cytochrome P450 enzyme. GeneshieldTM Cardio-Diabetic test at Datar Genetics Limited would help you and your clinician to alter you present medications or dosage. This test has turnaround time of 2 weeks and needs 4ml whole blood/saliva.
  2. Review your results. Know which drug is most effective for you and which wouldn’t have any adverse drug reaction (ADR) on you.

Your result will look like this

Share the information with your doctor and ask them to make changes accordingly in your prescription.

This test also helps you take control of your overall cost of medication by identifying the right medicine for you, from the beginning of the treatment. So talk to your doctor today.


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Pharmacogenetics – Selecting Right Drugs For the Right Genes

Did you know that 87%of the total patients receiving cancer chemotherapy develop Adverse Drug Reactions (ADR)? It also causes 50 deaths out of 1000 patients in India. These statistics highlight the importance of correct drugs for the treatment.

Depending on your genetic makeup, some drugs may work more or less effectively for you than they do in other people. Likewise, some drugs may produce more or fewer side effects in you than in someone else.

Pharmacogenetics is the study of inherited genetic differences in drug metabolism which can affect individual responses to drugs, both in terms of therapeutic effect as well as adverse effects. It plays an important role in Oncology.

Now, doctors are able to use information about your genetic makeup to choose the drugs and drug doses that are helpful to you.

For example, if a patient asks for extra amount of codeine to relieve the pain, it can come across as a sign of an evading patient seeking narcotics. However, that patient can be breaking down the codeine within minutes of swallowing it and therefore not be able to create the intermediate molecule that relieves the pain. With this conclusion, the physician can suggest the suitable drugs.

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Pharmacogenomics also help to save you time and money as the “best-fit” drug for you can be chosen from the beginning of the treatment to avoid the trial-and-error approach of giving you various drugs.

Besides pharmacogenomics, other factors may influence how a person reacts to a drug. These include:

  • Person’s age and gender.
  • How advanced the cancer is.
  • Person’s lifestyle habits, such as smoking and drinking alcohol.
  • Other diseases that they have and the medications they are on for these conditions.

FDA Guidelines for Pharmacogenetics

The U.S. Food and Drug Administration (FDA) has listed many drugs that need genetic testing before introducing them in the treatment. Some of them are Mercaptopurine and Irinotecan. FDA recommends genetic testing before giving the chemotherapy drug mercaptopurine (Purinethol) to patients with acute lymphoblastic leukemia. It also advises doctors to test colon cancer patients for certain genetic variants before administering irinotecan (Camptosar), which is part of a combination chemotherapy regimen.

Let us see some case studies so that we can understand how pharmacogenetic analysis helped patients with better drugs, and thus, treatment.

  1. A 62 year old male patient with colon cancer was started with a standard dose of FOLFOX and after 6 weeks, Irinotecan and Cetuximab were introduced. However, after the first cycle, sever Myelo-suppression was developed. It delayed the chemo for 3-15 days every cycle. At DGL, comprehensive pharmacogenetic analysis consisting of tumour mutation analysis was advised which confirmed ADR to Irinotekan and 5FU and capsitaben was recommended.
  1. 52 year old male Chronic Smoker diagnosed with adenocarcinoma of the Right Lung with liver metastasis was given Pemetrexed and Carboplatin- 6 cycles which showed partial response. He was advised comprehensive pharmacogenetic analysis at DGL consisting of Tumor mutation analysis for efficacy evaluation and Pharmacogenetics for toxicity profile that showed KRAS mutation which explains partial response to Pemetrexed. Other mutations detected suggestive of personalized targeted therapy.

Geneshield Test at DGL

This test at DGL requires sample of whole blood/ saliva and turnaround time is 2 weeks. The report will give you the information of the genetic mutations you carry that would affect the efficacy of drugs. This test also gives you information about the toxicity of these drugs on your body at the same time.


It’s always better to maintain a good rapport with the doctor. Here are the few things which you should discuss with your doctor before starting a treatment.

  • Would you explain my treatment options?
  • Which treatment or combination of treatments do you recommend? Why?
  • What are the possible side effects of this treatment?
  • Is there a way to predict how the cancer will respond to this drug or whether I might experience severe side effects?
  • What are my options if the cancer does not respond to the drug or if I suffer from severe side effects?

Detecting the ill-effects of drugs and replacing them with proper ones under expert advice definitely help to give the treatment a right direction.




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