Liquid Biopsy and its role in fighting cancer

Wrong diagnosis and wrong medications can lead to fatal results in person’s health. According to September 2014 bulletin of Sample Registration System (SRS), India has an infant mortality rate of 40 per 1,000 live births.Wrong drugs cause 50 deaths out of 1000 patients in India. Most of the times, a regular disease can exaggerate and become fatal because of the wrong diagnosis and medications. Same was the case with Mr. Deshpande (name changed) – which almost took a toll on his life.

When Mr. Deshpande, a 74 year old retired banker started suffering from abdominal pain, weakness, and fatigue, his wife was alarmed because he had always been very careful about his diet and exercise regime. Neither did he miss his regular check-ups. He wanted to lead his retirement exactly the way he had planned. However, all his plans were short lived because of his constant health issues after the retirement.

On the contrary, he also lost his weight drastically. When his wife took him to their GP, he referred them to an expert in the city where he was first diagnosed with adenocarcinoma of colon in November 2013.

After the diagnosis, the doctors suggested surgical resection which would be followed by chemotherapy. Doctors also advised a Positron Emission Tomography (PET) scan. This scanning is basically to check how the tissues and organs in the body are working. A year later,in November 2014, while testing, a mass measuring 2.1 x 1.7 cm was detected in the lung with speculated margins. The doctors assumed it as a metastasis from colon cancer and started with Capecitabine – a chemotherapeutic agent.

After the prescriptions, he was being continuously monitored with PET scans. However, despite of the chemotherapy which was ongoing since a year, the mass was continuously increasing in size.

Doctors were not sure if it was indeed a metastasis of colon cancer, or it was a result of tuberculosis or in a worse case, primary lung carcinoma?

After looking after a varied possibilities and options, he was referred for a liquid biopsy. However, Mr. Deshpande was reluctant because of general perception of the biopsies. He was only relieved when the doctors explained that the procedure is as easy as a simple blood test.

Liquid Biopsy showed mutation burden 4.4 % of total cell free DNA. It was an indication of active primary lung carcinoma. The Liquid Biopsy indicated therapeutic response to targeted anti EGFR therapies such as Afatinib, Gefitinib and Erlotinib.

Here, Gefitinib was prescribed to the patient. This drug is only effective in cancers with mutated and overactive EGFR. It started showing its results and the tumor began to shrink gradually. Repeat PET scan showed reduction in tumor size by 70%. That meant a great success of the accurate diagnosis and correct medications.

Liquid Biopsy after three weeks
Liquid Biopsy after three weeks

Five weeks later, detectable mutation burden in the cell free DNA obtained from plasma was negative. The mutation burden was reduced even more as compared to the previous analysis possibly due to Gefitinib therapy.

Mr. Deshpande is completely hale and hearty now. It’s interesting how one correct step towards the course of treatment can leave a huge impact on patient’s well-being.

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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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Oral contraceptive Pills and genetics

Oral contraceptives and Genetic Suitability to women

The last couple of decades have seen a lot of changes in Indian society with regards to changing lifestyle, family patterns, and change in earning power, decision making and so on. While most of the women in urban areas work along with the male members of in the family, they use various methods to prevent or postpone the pregnancy. Among many other methods, oral contraceptive pills are the most used ones. In spite of its popularity, these pills also have a lot of side effects and risk factors. Let’s take a look at some of those.

Risk factors

Oral contraceptive pills come with a minor chance of blood clots in many women. But for some, this risk is very high because of the mutations in their DNA. The blood clots can sometimes prove fatal by resulting in permanent disability or even death. The women who have factor V gene are recommended to refrain from taking oral contraceptive pills because of the possibility of causing serious damages. In this case, genetic testing can prove very helpful and help the patient to select the correct medicines.

Risk of heart attack and hypertension increases in women taking oral contraceptive pills

Oral contraceptive pills also carry a risk of cancer – Estrogen and progesterone – that are naturally occurring and believed to be influential in development and growth of certain cancers. Population studies and study or cancer risks have not been able to find satisfactory link to the OCP. The distinction between the risk factors is also depended on the types of cancer. E.g. risk of cervical and breast cancer appears to increase while the risk of ovarian cancer seems to decrease with the use of OCPs.

Major factor associated with the risk factors of these pills are because of the amount of estrogen. Thus, nowadays, contraceptives with low estrogen content are developed and widely used. These contain less than 50 micrograms of estrogen. Further, if any woman has a family history of cardiovascular disorders, it is always better to avoid estrogen-containing contraceptives.

Oral contraceptive pills and genetics
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Genetic suitability

Genes decide how body responds to any medications and drugs, same applies to contraceptives. Only genetic analysis is capable of decoding this complex mechanism of genes.

The genetic test will reveal if one carries the Factor V Leiden Mutation and other genetic combinations that put them at risk if they use oral contraceptives. It’s always safer to use the ‘PILL’ after genetic analysis.

Estrogen containing contraceptives increase thrombotic risk in females carrying factor V leiden or prothrombin gene mutations

Mutations in certain genes have been identified to contribute to the risk of migraine. Oral contraceptives are contraindicated in such patients

Weight gain is a prevailing problem in women using contraceptive pills. Genetic Screening for predisposition to ADR with respect to oral contraceptive pills at DGL tests for 10 genes responsible for the risk of being overweight after using certain OCPs.

It is always better to be informed than to regret. Genetic testing helps.

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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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Image credits-

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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