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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Legs and pelvis are affected first in Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy and Genetics

When Ranjeetha and Rakesh were preparing Anish, their 3 year old for pre-school, they observed that he had difficulty walking and sitting up. They took a primary treatment from their family doctor but as the problem persisted over the year, they were worried and decided to take him to the specialist and Anish was diagnosed with Duchenna Muscular Deficiency (DMD). They were heartbroken with the thought that Anish would have to spend the rest of his life bedridden, or on a wheelchair – totally dependent on others. But very little they knew that their genes were responsible for his condition.

What is DMD?    

Duchenne Muscular Dystrophy is a disorder caused by inherited mutations in genes. It affects protein in Dystrophin (muscle fibres) and causes progressive muscle weakness because of the breakdown and loss of muscle cells. There are around 20 types of muscular dystrophies, but Duchenne type affects only boys, and in rarest of the rare conditions – some girls. The problem here is, the disease is not diagnosed in the infancy, but around the time when child is around 3-5 years of age.  It is named after gentleman from Paris named Dr Duchenne de Boulogne who worked on DMD for the first time in 19th Century.  Even though inherited faulty genes are linked to this gender-specific disease, it can also affect girls in some rare cases through some mutations.

Curvature in spine due to DMD
Curvature in spine due to DMD


It starts with increasing muscle weakness of pelvis and the area below along with a loss of muscle mass. Slowly the weakness spreads to the other parts of the body. In the initial stage, the symptoms include enlarged calf muscles, low endurance, and difficulty in standing & climbing stairs without any help.

In the later stage, muscle tissue gets replaced by fat and tissues caused by wastage. By age of around 10, the patient requires help for walking and fully dependent by the age of 12-13 years. After that, bones develop abnormally and spine curves in an abnormal manner. Eventually it leads to paralysis. It also affects the intellect of the patient but that is not confirmed.

Inheritance of DMD
Inheritance of DMD

Role of genes

This disorder is caused by an X-linked gene. Here, the carriers of mutated genes are mostly mothers. However, in most of the recent cases, it is observed that gene mutation occurs in the boy himself rather than mother being the carrier. In more than 50 percent of the cases the mother is the carrier of the mutated genes. Son and daughter of the carrier have 1:1 chance of being affected by the mutated genes, but the number of affected girls is very less.

Once a boy in the family has been diagnosed with DMD, it is advised to undergo genetic screening for the other members of the family who may be at a risk of being carriers. At DGL, we have ‘Genetic Testing for Duchenne Muscular Dystrophy which identifies the risk of the disorder and also detects the level of mutations. It helps parents of the affected children to take necessary measures.

The average life expectancy for patients afflicted with DMD is around 25, but this varies from person to person. It’s a disease that affects 1 in about 4000 baby boys. The course of treatment changes according to the stage of the disease. Though there are medications available, physiotherapy plays a major role in comforting the patient and improving their life quality.

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Watch out for these 9 symptoms of Bone Marrow Cancer

Many people are diagnosed with bone cancer every year and almost half of them die because of it because of the late detection. Bone cancer originates from the cells that make up the interior part of the bones. Bone cancer is classified into two types- primary and secondary.

Primary bone cancer starts from cells in the hard bone tissue. It is a rare type of cancer and accounts for only two in every 1,000 cases of cancers diagnosed. This type of cancer is more common in men than in women.

Secondary bone cancer is a metastatic cancer, meaning – a cancer which started in another part of the body and spreads to the bone. This is more common form of cancer. Cancers of breast, prostate, lung, kidney, and thyroid can spread to the bones and initiate a cancer there. Treatment of this cancer is different from primary cancer.

Here are some symptoms which can possibly indicate bone marrow cancer –

Bone marrow cancer
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  1. Bone pain

Intense pain is in bones or joints is one of the major symptoms of bone cancer. This pain can be a result of cancer tumour- from tumour pressing against nearby nerve or organ or as a result of radiation. This pain usually intensifies during night. However, bone pain is also symptom of arthritis or injury.

  1. Easy bone fractures

The cancer affects the bone cells badly and makes them brittle. So if a bone gets fractured with a minor accident or pressure. E.g. Putting pressure or banging against the door slightly can result in fracture. This is a symptom of bone cancer.

  1. Weight loss

Weight loss that cannot be attributed to diet, exercise or any particular treatment can be a symptom of cancer. Here, the body loses its capacity to eliminate wastes and can also result in constipation.

  1. Inflammation

This symptom is common in primary bone cancer where the cancer develops inside the bone. It causes inflammation and swelling in the area where the tumour is present. It also makes skin very tender and sensitive.

Fatigue is a symptom of bone cancer
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  1. Fatigue

Though this is a generalized symptom and can be associated with many other disorders; it is also a result of cancer. If the tiredness and fatigue doesn’t go with enough rest and proper diet, it can be a symptom of cancer.

  1. Anemia

Anemia occurs because the body produces more white blood cells to fight the disease and thus, production of healthy red blood cells decreases. It is one of the symptom of bone cancer.

  1. Appetite loss

As the cancer grows inside the body, the patient loses his energy and willingness to do physical work as well as physical and mental energy. The patient loses his desire to eat as the food no longer seems appetizing. The cancerous cells also absorb nutrients from the food and healthy cells get very little.

  1. Problem in sleeping

As the main symptom is pain in the bones, the person affected with bone cancer finds it extremely difficult sleeping or resting. Also, pain increases more during night and thus makes it hard for a person to have a sound sleep.

  1. Decreased immunity

To fight any disease, body produces extra white blood cells and it results in frequent infections and common diseases like cold, cough, flu, etc.

Our genes have 30% influences on our bone health. Along with our genes, bone health depends on many other factors such as age, diet, and proper exercise. Poor sunlight exposure, overuse of sun blocks, low calcium intake are some causes for lack of Vitamin D. Screening using genetic tests can help you to calculate your risk factors and take necessary measures.

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Bad lifestyle choices can lead to cancer

9 New-age lifestyle habits that can increase your risk of cancer

Sure we have all have a certain pace to follow in today’s world without which we can be left behind. We all have to run in the race and make sure we are the winners. However, while following our passion and working hard to make our dreams come true, we often neglect our health. We do not care about our food, exercise, or healthy habits. This leads to various health disorders and one of the scariest threat is that of cancer. Though we do not do it intentionally, these habits affect our health.

Here are some habits that you should avoid –
1. Processed foods

Diet plays a very important role in our overall well-being – physical as well as mental. Nowadays processed food is in and we find it easier to stock our refrigerators with ready-to-cook meals and microwave it just before leaving for work. Charcoaled grilled food is also a trend these days. But the compounds in charred foods are supposed to help the occurrence of breast cancer in women.

Overly processed food
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2. Sodas and energy drinks

All of us think that no sugar = no health problems; and happily sip on diet coke. However, it’s not just about the sugar. The artificial colours in many sodas are connected to cancer. It is also the case with artificial sweeteners. This is called caramel colouring and it is found in many drinks and processed snacks items. These drinks have high glycemic index and increase the risk of endometrial cancer.

3. Overeating

With so many outlets nearby and food-ordering being so convenient at a tap of our fingers, overeating is bound to happen. It also means no proper intervals between the meals. Overeating leads to obesity and obesity is linked to many types of cancers like colon, breast (postmenopausal), endometrium kidney and esophagus.

4. Cellphones

Radiations from cell phone are dangerous and can lead to cancer. So it’s advised that SAR (Specific Absorption Rate) of the phone should be checked while buying a new phone. It measures the radiofrequency energy absorbed by the body from the cell phone. You need to be more careful when you are in an area with weak signals, because phones work harder to search a signal and thus, emit more radiation.

Mobile radiation and cancer
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5. Sitting too much

All of us spend a major portion of our day sitting at our computer screens. It not just leads to jammed muscles and body pain, but also increases the risk of cancer. With the urban lifestyle, there’s very less or almost zero physical activity. Thus, it’s advised to do some physical activity at least once a day. It lowers the risk of colorectal, postmenopausal breast, and endometrial cancers.

 6. Working in night shifts

A study has found out that women who have worked at night shifts for more than 30 years have doubled risk of getting a breast cancer as compared to those who haven’t. It is because of the melatonin suppression at night. However, there are other factors too; disturbed sleep, lack of vitamin D, upset body clock, to name a few.

7. Alcohol

This is a no-brainer. Everyone knows the side-effects and after-effects of alcohol. Though occasionally indulging in some drinks is not a problem; making it a habit and having it every day definitely leads to cancer. When alcohol metabolism happens, it produces a carcinogen in the body and increases the risk for breast, mouth, pharynx, liver, and colorectal cancer.

8. Over-exposure to sunlight

Harmful UV rays from sunlight can increase the risk of melanoma skin cancer. The rates of skin cancer have gone up in a last few decades and it can be attributed to the choice of clothing as well as casual amount of sunbathing as a recreational activity.

Sun rays and skin cancer risk
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9. Oral sex

It was quite a shock for everyone when Hollywood actor & producer said that he had got throat cancer because of excessive amount of oral sex. However, it is scientifically proven that oropharyngeal cancer is caused by HPV infection acquired from oral to genital contact. Thus, it’s always advised to be careful while engaging in such sexual behavior.

Above are some of the habits on which you should keep a check on to lead a healthy life. Because it’s rightly said- prevention is always better than cure. And if there’s any doubt you should always get tested for your risk factors so you can take preventive measures.

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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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