Acknowledging Genetic Counsellors

Acknowledging Genetic Counsellors

Doctors play a very important part in our lives. From the diagnosis of diseases to maintaining an overall good health, doctors have been an integral part of society. Right from the Vedic times, the importance of surgeons, medics and dieticians has been prevalent through the ages. Be it fasting on certain days, taking care of a sprained ankle, treating cuts and bruises, medicine and healthcare plays a pivotal role in all of them.

Looking back at when anyone is even born, the first nutrition is mother’s milk and the first line of defence at diseases is the immunity that one is born with. Immunity is a product of the genes that have been passed down from parents. Genes decide how well your body adapts to the environment and develops immunity towards foreign elements. Then, does it not make more sense to be more aware of your genes and how they contribute towards your well-being?

Genetic counselling and testing form an integral part of understanding inherited conditions and physical/mental abilities. Speaking of Indians, for the most part, people in India are resistant to most common allergies and common diseases. Likewise, people of African origin are built sturdy and can become great athletes. People in colder climates and those born at high altitudes have a physiology that is quite hardy. Look at any other demography and you will find certain advantages that they will be granted with. Genes lie at the core of it all. Genetic counselors help you understand the strengths and weaknesses that your genes provide.

Just like any doctor, a good genetic counselor is patient, listens to your concerns, understands your queries and offers the best advice meant for your better well-being. While the process starts with a simple consultation that includes your family health history, a genetic test helps identify recognised traces that can cause health complications that might have been inherited.

Based on certain markers, a genetic counselor can let you know if you have a rather high risk of developing cancer, any kind of heart disease or if you’re planning for a baby; advise you if your newborn can have possibly inherited complications. Since this is a proactive measure towards finding the chinks in your health, it helps you be better prepared for the future.

This begs a question. Can knowing more about genes prevent diseases like cancer and/or heart diseases? It is important to understand that genetic markers that can be a trigger for these diseases are mostly present in a dormant nature. Based on your lifestyle, diet, medication or environmental factors, these triggers can be activated. Thus, when you abstain from particular risk factors, there’s a high probability that you’d never have to worry about diseases like cancer or heart diseases. All that, with a simple genetic test that is done once and a few minor changes to your life. When it comes to prenatal genetic testing, you are better informed about the risk of passing on any kind of inherited genetic complication to your child. Your decision after that, whether to go forward with family planning or to look at other options, is better thought out.

It is important to understand how a car works in order to troubleshoot any complications. Genetic counselors understand how the basic constituent parts of the human body operate – the genes. That itself allows a degree of prediction of any kind of health complications. It goes without saying that such knowledge and understanding, combined with contemporary healthcare measures will be the future of holistic healthcare.

Your Genes Matter. Take Charge.

Heart disease. Can genetic counselling and testing help?

Genetic health counselling is soon going to be the future of proactive health.

The reason is quite simple. Genes are the building blocks of any living being and they control how the body performs it various functions. One such crucial functioning that genes control is that of the heart. From the strength of blood vessels to the way cells in the cardiovascular system communicate are all controlled by genes. Therefore, an individual’s risk for heart disease is influenced in many ways by genetics. The likelihood of developing heart disease can be affected by a genetic variation in a single gene or many genes. For example, a genetic mutation (variation) can change the way in which a protein functions and therefore the cholesterol is processed differently. Various kinds of heart disease can be passed down through generations of a family. A few of the heart diseases are caused by just one or few genetic changes, yet can have a big effect in causing the disease. These conditions are known as monogenic conditions. Some of these conditions include Long QT syndrome and hypertrophic cardiopmyopathy. The more common cases of heart disease are caused by genetic changes in many different genes, known as poygenic conditions.

Close to about 30% of heart diseases can be related to genetic factors.

When and why should you opt for genetic counselling?

With the current progress in medical science, it is still not possible to physically change or fix mutations to reduce your risk of heart disease. In such a situation, when a family member is diagnosed with heart disease other family members must be encouraged to undergo screening for risk factors and to identify the onset of any early stage of the disease. When the risk is identified, the individual can take precautionary measures and ensure that they lead a healthy lifestyle and monitor their heart condition on a regular basis. Genetic testing normally follows a genetic counselling session. Almost anyone can opt for genetic counselling and understand the process. However, if you have had anyone in your family, your parents, uncles, aunts or grandparents who have had a heart condition, it is highly advisable for you to undertake a genetic counselling session.

Based on the results of the counselling session, you might be suggested to go for a genetic screening test. During the counselling session, the genetic counsellor will take down your personal health history, family health history and lifestyle choices. Any kind of prior tests done, any medications being followed regularly or occurrence of heart ailments will be recorded. Based on the information provided during the counselling session, the genetic counsellor will assess you risk and let you know, if you have a higher susceptibility for a heart condition and recommend an appropriate genetic test. If you do have a higher risk, a genetic test can help you understand your risk with much more certainty. The genetic counsellor will conduct a post-test genetic counselling session. and help you understand your report and guide you on next steps. This could include advisory on whether you need to discuss your report with your Doctor.

To know more about what a genetic heart counselling involves and how a genetic test is done, please reach out to us at

Genes Do Matter

Are genes just a way to know your ancestry or do they hold the blueprint to your past, present, and future? Let’s dive deeper into the science of discovering

Who are you? If I ask you this question then most of you will start by telling your name, your age, your qualifications, your professional background, and some of you will even show your identity documents. Basically, you will share the units of your information or data about you. The whole universe runs on account of data. Data dictates the actions of cells, molecules, atoms, and even subatomic particles. An inert gas like argon will always remain heavier than air and a lion will always be a carnivore because that data is inscribed in their molecules and genes respectively.

What if I tell you, your genes or your DNA, holds the reins to your past, present, and even to your future? A good deal of who you are and what you would turn out to be is already registered in your genes. Our DNA is an important determinant of many aspects of our lives like health, happiness, risk-taking, vulnerability to stress, IQ, anger, and even religious and political views, to name a few.

Does that mean your genes are responsible for your anger issues, depression, beliefs, and actions? It might be overwhelming to discover how much information our genes could tell us, but it is important to understand that external factors like environment and experiences are equally influential in determining which genetic options will finally get inked.

To diagnose or predict a certain type of disease

A genetic test helps you to identify your risk of developing the diseases linked to your genes. If certain medical conditions run in your family, a genetic test predicts if you are at a risk of developing that condition. For example, genetic tests may be helpful for predicting the likelihood of certain types of cancers.

To determine the cause of the disease and taking necessary steps to prevent it

Your test results guide your doctor and genetic counsellor to take and advise precautionary actions to prevent those diseases from occurring or to reduce their severity. The idea of having a genetic test is to catch the disease before the onset of symptoms, at a point where it is easier to manage or even stave off a disease.

To determine treatment options for your health condition

If you are suffering from any particular health condition, a genetic test can help you determine the most effective drug and its dosage for your body.

To know your risk of passing a disease to your child

If you are planning a child, a genetic test can determine if you have a disease-causing mutation that you could inherit to your child.

To change your lifestyle and reduce your risk

Genetic tests enable you to make informed decisions. Based on your test results, your doctor recommends necessary lifestyle changes to control the external factors that might trigger the onset of gene-related diseases.

To screen your foetus or baby

If you are pregnant, a genetic test can detect the abnormalities in your baby’s genes. A simple prenatal blood test is a risk-free and highly accurate method to detect cell-free DNA circulating in maternal blood, as early as 10 weeks from amenorrhea. Early information about the genetic abnormality in foetuses gives parents the confidence to decide the fate of their families.

In this age driven by instant information, genetic testing is an important tool to manage our health. Have you ever wondered how it feels when the doctor says, “A brisk walk for 30 minutes thrice a week could have saved you from atherosclerosis” or “Cutting refined sugar and refined carbs from your diet could have prevented your diabetes”? In such situations, we wish to get a chance to turn back the time and with a genetic test, you give yourself the power to do so.

A simple genetic test with Trugeny does exactly the same, it allows you to peek into your genetic destiny to discover your susceptibility to certain kinds of diseases. This predictive test allows you to intervene and make necessary alterations in your lifestyle to prevent those illnesses from occurring.

An ounce of prevention is worth a pound of cure and that’s where genetic testing makes the most impact.


Genetic Counselling, Testing for Family Planning during COVID-19

The coronavirus lockdown is being extended by at least another two weeks. After almost a three week lockdown many states had proposed an extension of the lockdown; that itself should be enough to explain the severity of the situation. Every living organism on earth can be affected by viruses. In the absence of a cure or vaccine, the only protective barrier helping you would be your immune system. At the centre of life, life processes, immunity and infections, lie genes. Genes are made of DNA, for viruses that can be DNA or RNA.

As per doctors, it has yet to be ascertained if a vertical transmission of COVID-19 is possible. That is, the transference of the disease from the mother to the child that is still in the womb. However, an evidence has been recorded and that definitely raises concerns for hopeful parents during this period. Even if such transmission has not yet occurred, there are genetic ailments that can appear in babies. These are the direct consequence of the genes present in the parents

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Genetic ailments that typically appear in babies can include Down syndrome, sickle cell anaemia, cystic fibrosis, haemophilia, fragile X syndrome and others. Even if both parents are perfectly healthy, there’s a chance that the baby can have any of these disorders. Knowing the possible genetic risks associated with a birth can help you be better prepared for your future child.

Prenatal genetic counseling and testing from truGeny can help you understand your risks based on your family health history and the role your genes play. You can therefore make well-informed decisions on your future family.  

COVID-19 has all of worried and there’s a lot of anxiety amongst us. With truGeny – India’s first telegenetics platform, you can access the best of genetic counselling and testing from the saftey of your home. Whether you are currently pregnant or planning for a family, truGeny is offering you free genetic counselling sessions to help you access the best of genetic health. 

Breast Cancer. Early detection is the WAY

There is a raising incidence of breast cancer in women in India and an urgent need to identify at risk individuals for reducing the disease burden. Researchers conducted a National Survey of Precision Medicine in Cancer Treatment (1) primarily due to the fact that there is increased accessibility, affordability and reliability of DNA and RNA high-throughput sequencing platforms (Next Generation Sequencing – NGS) along with bioinformatics capabilities. This technology enables oncologists to provide more personalized care referred as precision oncology. There is a lot of research and acceleration in developing tumor gene sequencing panels resulting more challenging time for oncologists to effectively incorporate them into their routine patient care. The survey found that 75.6% of oncologists use NGS based genome testing to guide treatment decisions and 34% use to guide treatment for patients with advanced refractory disease. Also 29.1% doctors used to identify patients for clinical trials, thus suggesting wide usage of NGS platform.

Pathogenic mutations in breast cancer susceptibility genes BRCA1 and BRCA2 are associated with increased risks for breast, ovarian and fallopian tube and peritoneal cancers in women. These mutations cluster in families, exhibit an autosomal dominant pattern of transmission either in maternal or paternal lineage. Identifying at-risk women has several challenges in India unlike in several developed countries where high risk individuals undergo genetic counseling (GC) prior to genetic testing. GC plays an important role in selecting suitable individuals for genetic testing by accurately constructing their family pedigree along with relevant medical histories. This has not being done in mainstream clinical practices in India. GC is known to be associated with improved adherence to cancer risk management, lower patient distress along with better informed surgical decision, high patient satisfaction and cost savings (2). In India, GC is provided by oncologists who are already very busy with number of patients and there is an urgent need to integrate expert GC by trained counselors to enable and empower patients to choose the required type of testing for their families. 

The socio-geographical complexities in India are difficult for GC to penetrate as India is a multilingual country. Majority of patients prefer to converse in their native language and face-face traditional counseling model. However with large scale usage of mobile phones and internet services, telephone, video or Skype technologies can enable better reach to patients. Virtual consultation models with different languages can help as GC is still a growing field in India. Pre- and post- genetic testing tele-genetic counseling was shown to increase genetic testing uptake by more than 65% in patients with breast cancer (3). Integration of remote counseling model by clinicians into their practice can enhance their reach out to patients and improve healthcare outcomes. This seems to be best approach for tackling steady increase in cancer cases, meet the local needs, reduce costs, improve early detection, surveillance and disease management.


  1. Armstrong J et al. JAMA Oncol 2015;1:1251-60
  2. Sarin R. J Cancer Res Ther 2006;2:157-8
  3. Nilsson MP et al. Breast Cancer Res Treat 2018;168:117-26

Genetic Testing and The Dreaded Corona Virus

Over the past few weeks, news of the spread of COVID-19, or coronavirus disease, has dominated all media channels. It’s everywhere –  in your news feed, in your inbox, on TV, and everyone around you is talking about it. So how informed are you about COVID-19? Can you be genetically susceptible to this? Can genetic testing help you in any manner? Thinking of a satisfactory answer? Not to worry! Keep reading to have a bird’s eye view of all notable information about the disease.

who, genetic testing, genetic counselling, corona virus, coronavirus, COVID-19, trugeny

Originating in Wuhan of the Hubei Province, SARS-CoV-2 (Severe Acute Respiratory Syndrome) was first detected in China during December 2019. The Chinese government took steps to immediately inform the WHO about the detection of the new virus and the related disease caused, namely CoronaVirus Disease 2019 (COVID-19). The spread of the disease is like the outbreak in 2002 for SARS and MERS in 2012. By January 21st, 2020, the first confirmed case of infection had happened in the US with around 12 cases by the end of January 2020. As of March 16th, 2020, 115 cases had been recorded in India. The cases primarily feature people who have had travel history including China. While the symptoms are similar to that of influenza and cold, swab tests can reveal if the virus is indeed the common cold or the SARS-CoV-2.

Swab tests? What is that? These tests involve taking samples of mucus from your nose or throat or of the sputum if you’re coughing it up. At times, blood can also be drawn to have a test done, but it is not always necessary. The genome sequence of the virus had been released by researchers in China by December 31st, 2019. Using this information, in the lab, technicians can look for genetic sequences matching that of the coronavirus. The results can then be declared positive or negative. So, what does this mean for you and should you opt for a genetic test?

First things first, as per the WHO, there are some common signs of being infected by the Coronavirus – respiratory problems (shortness or irregularity of breath), fever and cough. If the infection is severe, it can result in pneumonia, severe acute respiratory syndrome and even death. Now in the initial stages, it could be mistaken for common cold and if someone has a history of asthma, it could also be mistaken for that. Considering that the virus outbreak is still on the rise, it will be a good idea to get a test done as soon as possible. Test results can be delivered within as less as three hours. However, if one or more results even turn out to be negative, it doesn’t eliminate the possibility of infection.

As of now, there has been no vaccine or confirmed treatment for the infection. Those who are clinically ill are often put on respirators to help them breathe. Common antiviral treatments are still being investigated. In the meantime, there are certain precautions that you can take in order to stay safe. Preventive measures include regular hand washing, covering the mouth and nose when sneezing and/or coughing and thoroughly cooking meat and eggs before consumption. It is advisable to avoid close contact with anyone showing symptoms of respiratory illness such as sneezing and coughing. This new strain of the virus is zoonotic, meaning it spreads from animals to humans. So, if you can avoid non-vegetarian prepared food available outside, it would be much better.

Finally, some other questions that keep popping up. Should you cancel your travel plans? If they aren’t urgent or aren’t covering East Asia and Europe, you should be safe to proceed. For a more detailed account, refer to this link by the CDC. A more summarised map-wise view is available here. Can you order items online from China? Yes. This is a respiratory virus and cannot survive transit conditions internationally. Should you wear masks all the time? Based on where you live, your doctor and the health and welfare department can issue notices to follow certain practices. It would do you good to observe them. Can you be genetically susceptible? As of now, there have been no confirmed reports of that. The only practical measure is prevention.

Precaution and preemptive measures help in being better prepared not only for COVID-19 but for almost every other ailment. Genetic counselling and genetic testing help you be prepared for quite a few health conditions. To know more about them and how they can help, please visit

When Should One opt for Prenatal Genetic Counselling

There are people who love babies, those who adore them or those who haven’t given a thought about progeny. But if you are planning on having a baby, irrespective of if you are going to be a mother or a father, certain responsibilities are unavoidable. You might say, yeah, there’s a lot of financial and medical preparation to be done and that you have already accounted for all of that. Sure, but have you accounted for your genes? Apart from the love, care and affection that you’re going to give your child, you also pass on your genes. What’s so wrong with that? Genes are responsible for the way you look, how your body functions and how healthy you are. Genes regulate everything, from your allergies to how strong your immune system is. Genes are passed on from a parent to a child and at times certain genes are responsible for causing diseases. The goal of prenatal genetic counselling and genetic testing is to help you understand if there’s any risk of you passing on these genes to your future baby.

That short bit of information doesn’t necessarily clarify everything. After all, you have been healthy for the better part of your life and so has your partner. What possible risk could come to your child? A child born to two healthy parents should be healthy as well. Of course, that is true for most cases. But did you know that over 80% of babies born with genetic disorders have no known family history of diseases.  Almost 30% of all birth defects have a known cause that can be explained and understood through prenatal genetic counselling and testing.

If there have been no medical complications or birth defects in your family history, you might be among the standard 3-4% background rate for birth defects. However, there are few family lines where everyone is born pristine and has no health issues later in life. Genes have flowed down from your most ancient ancestors, have worked in tandem with environmental factors to make you the person you are today. If you take longer to recover from a common cold or you heal fast from cuts and bruises, it is all due to your genes.

If you are looking to get married and planning for a baby soon, a prenatal genetic counselling can help in a lot of ways. Counselling might or might not be followed by testing. This is further confirmed by your genetic counsellor. A genetic counsellor will analyse your and your spouse’s family health history and let you know if you should go for prenatal genetic testing. If the test is done, your genetic counsellor can guide you through the test results and explain what it means for you and your future baby. Some common situations when genetic testing is advised to include the following –

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  1. The couple planning for a baby has a close relative with an inherited illness
  2. The pregnant woman is over the age of 30
  3. First pregnancy resulted in the birth of  a baby with a genetic disorder
  4. Standard prenatal screening test yields an abnormal result
  5. There have been one  or more prior miscarriages
  6. A stillborn baby  has been delivered with signs of genetic illness

You might be sure of your entire family’s health history, but when it comes to your baby, the inherited genes from your spouse also play a major role. Some of the genetic disorders that can be detected through prenatal genetic testing are the following –

  1. Cystic fibrosis – An inherited life-threatening disorder that affects cells that produce mucus, sweat and digestive juices making them thicker. This can plug up tubes, ducts and passageways inside the body
  2. Fragile X Syndrome – This disorder can cause mild to severe intellectual disability
  3. Sickle cell disease – A disorder that causes blood cells to become misshapen, break down faster than usual leading to anaemia or blockage of blood flow
  4. Tay-Sachs disease – A rare disorder that destroys nerve cells in the brain and the spinal cord
  5. Spinal muscular atrophy – A group of neuromuscular disorders that result in loss of motor neurons and increasing muscular wasting
  6. Thalassemia – A disorder where the blood cells have less than optimal amounts of oxygen-carrying protein.

Keeping the above common detectable disorders in mind, you can understand the seriousness of the situation when a baby is born with such conditions. It is even more worrisome to consider that children born with such disorders can be from normally healthy patients. Genes with disorders can remain dormant for people through multiple generations without ever showing up their effects. However, problems start when genes of both parents combine in a child and from being a harmless carrier, the baby shows symptoms of disorders. Prenatal genetic counselling and testing is not a cure for such disorders; however they help you understand the possible health complications that your baby might have. At truGeny, trained and certified genetic counsellors help you and your spouse understand your family health history, advise you if you need genetic testing done, analyse the reports thereof and guide you towards options that can help you achieve your plan of starting a healthy family. 

How TruGeny is Helping Patients Take Action Against Hereditary Cancer

How many times have you come across someone who has had a history or is currently fighting cancer? How many times have you listened to their experience and found that quite a few of them were living a model life, free from tobacco, alcohol and the known culprits of modern-day addictions? Were you surprised? As per the National Cancer Institute, almost 5-10 percent of all cancers are due to inherited genetic mutations. This fact makes it all the more important for us to learn and understand the kind of impact genes have on our health. The news of one acquiring hereditary cancer can be quite devastating. One tends to feel very lonely and world-weary. Once diagnosed, cancer can be treated or managed through various methods including chemotherapy, surgery, medication, followed by a life riddled with precautions. The biggest challenge for the patient is the way cancer comes in and seems to drastically control your life and your decisions. Keeping this in view, wouldn’t it be a lot more beneficial if you could be more prepared for cancer, if it is to occur? That is where genetic counselling and genetic testing come in handy.”Hereditary Cancer”

Hereditary Cancer, hereditary cancer test,

Is genetic testing a way to lessen the chances of cancer occurrence? No, but it is a way to be prepared for an eventuality by making informed decisions.  By itself, does genetic testing help an average person? The results given by testing can be too complicated for someone to easily understand the risk and the factors affecting his/her health. Family history plays a very important role in the risk analysis for an individual. Therefore, genetic counselling should precede genetic testing. At truGeny, highly qualified and certified genetic counsellor will first discuss the individual’s and their family’s health history. Based on the deductions drawn from this initial consultation, they can then be advised for taking a genetic test. The process itself is very simple. All it takes is your spit, yes spit (Saliva). The best part is that you can get the test done without having to leave your home. The test kit is sent to the person’s preferred address. Once the test is done, the counsellors will walk the person through the detailed analysis of the results and advise on the next steps.

Now that you understand the benefits of genetic counselling, let’s try to learn about genetic testing. Genetic testing looks for certain inherited changes or variants in a person’s genes. These variants can have beneficial, harmful, neutral or uncertain effects considering the risk of developing cancer or other diseases. Sometimes cancer can appear to run in families, even if inherited genes are not the cause behind it. Let’s say most of the members in a family live or work in a shared environment that has an unusually high number of carcinogens. Habitual smokers staying in the same house, people working in conditions that expose them to asbestos, radon, certain pesticides or tobacco smoke can run a higher risk of developing cancer, even if their inherited genes are not to blame. In case cancer has occurred in family members who were not in such environments, it is typically advisable to opt for a genetic testing to understand the variants involved in the genes that could be causing cancer at certain ages.

Many genes involved in the known inherited cancer vulnerability syndromes have already been identified. Through testing, it can be confirmed if someone carries a harmful variant of such genes, even for those who have not been diagnosed with cancer. Sometimes a tumour DNA sequencing can also be carried out to check if existing cancer cells of people have genetic changes. This can help in charting out a better way of treatment for those who have been diagnosed with cancer. Over 50 hereditary cancer syndromes have been identified and genetic testing can help understand the progression and nature of these better, due to the available research. Some tests are also used to identify genetic variants that do not belong under named syndromes but are found to increase the risk for cancer occurrence.

Even if one has had a relatively healthy life and no instances of cancer in their family history, environmental factors, diet, chemicals etc. can possibly be a trigger for increasing the risk of cancer occurrence. While there’s no direct preventive measure available against cancer, the ability to learn about one’s risk can have a significant impact on the outcome. A detailed genetic counselling, and a genetic test can reveal information that would be useful in combating cancer early on. If already diagnosed with cancer, genetic counselling and tests can help determine the best treatment and management options, including medication  that suits a patient. truGeny and its board of experts offer genetic counselling and tests to help people be better equipped against hereditary cancer. To know more about truGeny, please visit or book an appointment through this link.

What will genetic counselling and genetic testing tell me?

Your quest for healthy living and a happy family arises from a desire to have a predictable and safe future for you and your family. If you have a close family member such as a parent or a grandparent with a health problem, you might want to know if you are at a risk for the disease. Similarly, if you are planning for a child, you may want to know if you or your partner could pass on a disease to your future child. 1 , posing a major threat to public health. Over one million new cancer cases are diagnosed every year, and the number is expected to rise 5-fold by 2025 2 . In fact, today, India ranks third in the world with regard to incidence of cancers.

genetic counselling, genetic testing, genetic counsellor

The issue at hand may be a condition that has affected one or more of your family members and some of these conditions are often referred to as running in the family. Doctors call these “genetic” or “hereditary” health conditions.

Genetic counselling is not as complex as it sounds. It’s a simple conversation with a certified and highly trained genetic counsellor, where you can ask questions, get answers and address concerns about yours as well as your family’s health risk.

Genetic counselling is a process during which, information about the genetic aspects of a disorder and the risks of inheritance or passing on a disorder is discussed by a certified genetic counsellor. The counselling session is meant to provide guidance to those who are at an increased risk of inheriting a disease or of passing on a disorder to their children.

The genetic counsellor will provide you with information on the risk factors of you inheriting a disorder or of their recurrence. The counsellor will address the concerns of not only yours but also your family’s and also help consult with your Doctor. Additionally and more importantly, genetic counsellors also help you deal with the emotional aspects about how a genetic condition can affect a family.

There could be many reasons for an individual to seek genetic counselling. They may have a disorder themselves, or it could be a couple planning their first pregnancy and want to know their risk of passing on a disorder to their child. It could even be couples planning a pregnancy late in life or couples with an affected child and are planning for another pregnancy. Genetic counselling is useful for people at all stages of life, right from a baby being screened to teenagers being tested for Thalassemia or even assessing the predisposition risk of adults entering their mid-life so that they can make necessary lifestyle changes.

Genetic counsellors are trained to support you, so that you can ask them questions, such as:

  • Am I or my loved one going to be affected with a healthcare issue?
  • Or are my children going to be affected?
  • What can be done to treat it?
  • How does it affect while I age or what about my emotional well-being?

The answers to the questions you ask are provided during the counselling session. Once you learn about your health status, you can start taking proactive steps for ensuring a healthy future for yourself and for your family. If you are recommended to undergo a genetic test, counsellor will help you understand the test report, guide you and you can discuss it with your Doctor.

A little note about Genetic Testing: This is a type of medical testing that could involve you providing a sample of your saliva / blood or at times even tissue. The test identifies changes in chromosomes, genes or proteins. The test report will help either confirm or rule out a genetic condition. The reports also help determine an individual’s risk of developing or passing on a genetic disorder.

genetic counselling, genetic testing, genetic counsellor

The genetic counsellor will help you understand about the pros and cons of the test as well as discussing the emotional aspects of the testing. Genetic counsellor knows that it is important to have an understanding and support of your family. That’s the reason a genetic counsellor is available to counsel not only you but also counsel and help your family to understand better.

Genetic counsellors at truGeny believe that yours and your family’s health matters the most. The highly personalised service enables you to:

  • Know if you have a hereditary risk.
  • Stay ahead and help prevent or delay the onset of illness.
  • Understand your condition so you can manage better.
  • Be informed about your options so you can plan for your future family well.
  • Guide you through genetic testing.

If you too have a quest of life, we are always happy to listen and help.

Why is genetic counselling an unmet medical need?

Proper diagnosis of genetic disorders and cancers continue to remain an unmet medical need as the diagnostic process is challenging and at times patients are even misdiagnosed. With an estimated 1.15 million new cases in 2018, cancer incidence in India is predicted to almost double by 2040 as a result of demographic changes alone 1 . On the other hand, rare genetic diseases account for 35% of infant deaths in the first year of life 2 . As much as 80% of rare diseases are of genetic origin and often require genetic testing to properly diagnose them 3 . However, their needs are often neglected or overlooked by clinicians and the research community alike as these patients represents a negligible percentage of the overall patient population. As a result there is a gross underrepresentation of their diagnostic and therapeutic needs.

genetic counselling, genetic counselling in India, online genetic counselling

New genetic discoveries are creating newer opportunities in prevention, maintenance of health and management of heritable disorders. To fully realize the potential of these medical breakthroughs, strategies must be in place to disseminate accurate genetic information about the available resources for diagnosis, treatment and prevention of genetic disorders. genetic testing can play a pivotal role in implementing such preventive measures, by providing individuals a detailed understanding about the risk of genetic conditions including some of the most common chronic diseases and the use of the genetic information towards making life-determining choices.

Enabling a ‘proactive strategic’ decision-making pathway

According to a study conducted by the March of Dimes Birth Defect Foundation, 64.4 out of 1,000 birth defects suffer from genetic disorders in India. Currently, the diagnostic and rehabilitation facilities are scarce in India and focused in certain limited locations. The best defense against this growing burden is an early diagnosis in a proactive strategy i.e. prenatal screening before marriage or before conception that lets an individual and family know of their genetic implications. Notable improvements can be made in the lives of these individuals by diagnosing early and avoiding delays in care resulting in a greater probability of surviving, less expensive treatment and reduced morbidity. Genetic counselling would be a particularly important strategy, which helps in reducing misconceptions, addressing frustration and disappointment, and improving understanding and satisfaction.

genetic counselling, genetic counselling in India, online genetic counselling

Making the hard work a little easier for clinicians

With the growing incidences of cancers and rare genetic disorders, there is public curiosity and concerns about their own health. In addition, advancements in genomic technologies have also propelled the unprecedented growth of genetic testing companies. Direct offerings of genetic testing to the public through ‘Direct-To-Consumer’ model is expected to hit $2.5 billion by year 2024. With the constantly expanding panel of genetic tests, healthy individuals often receive genetic test results that indicate elevated disease risk. Such concerned recipients may turn to their clinicians for assistance, who typically are not geneticists to interpret test results that they did not order in the first place4. Moreover, a recent study has found that primary care providers have concerns about their ability to address DTC test results and a desire for clinical decision support to help in the interpretation of results5. In cases where genetic tests were ordered by the clinicians, the survey conducted on 488 doctors concluded that only 14% felt confident about interpreting the test results and the rest lacked the knowledge and skills to apply genetics in patient care6. In this current scenario, genetic counsellors can play an important role in variant interpretation and are also critical in helping patients and clinicians interpret genetic test results and incorporate them into patient care.

Unmet need in health care

As efforts continue to deliver personalized medicine, genetic counsellors can be vital to patients care. Genetic counsellors fill a niche that clinical geneticists or oncologists cannot compensate for, because of their good training of human genetic principles and their focused skills. Genetic counselling should preferably accompany clinical genetic testing to ensure that individuals undertake the right tests and get an accurate interpretation of test results. Incorrect interpretation could often mislead patients into making unfounded assumptions about their health risks.The New England Center for Investigative Reporting found that several women had inadvertently aborted healthy fetuses in 2014 after prenatal screening tests were misinterpreted without the assistance of a trained genetic counsellor. Hence, it is crucial to integrate genetic counselling into clinical practice across the different medical disciplines. Genetic counselling is considered as ‘non-directive’ science communication or ‘client-centered’ education which enables an iterative discussion about the impact and use of the genetic information. At truGeny, our certified genetic counsellors will help translate genetic information into clinical practice while navigating the psychological, ethical and legal pitfalls. To ensure access to quality genetic services for all individuals, truGeny offers online genetic counselling services via their tele-genetic s platform with a vision to improve patient’s access to health care in areas with geographical barriers, while reducing cost burden and saving time.


  1. Smith, R. D., &Mallath, M. K. (2019). History of the Growing Burden of Cancer in India: From Antiquity to the 21st Century. Journal of global oncology, 5, 1-15.
  2. Global Genes, Rare diseases: Facts and statistics
  3. Institute of Medicine. Rare diseases and orphan products: Accelerating research and development. Washington, DC: The National Academies Press. 2010
  4. Van Der Wouden, C. H., Carere, D. A., Maitland-Van Der Zee, A. H., Ruffin, M. T., Roberts, J. S., & Green, R. C. (2016). Consumer perceptions of interactions with primary care providers after direct-to-consumer personal genomic testing. Annals of internal medicine, 164(8), 513-522.
  5. Pet, D. B., Holm, I. A., Williams, J. L., Myers, M. F., Novak, L. L., Brothers, K. B., … & Clayton, E. W. (2019). Physicians’ perspectives on receiving unsolicited genomic results. Genetics in Medicine, 21(2), 311.
  6. Hauser, D., Obeng, A. O., Fei, K., Ramos, M. A., & Horowitz, C. R. (2018). Views of primary care providers on testing patients for genetic risks for common chronic diseases. Health Affairs, 37(5), 793-800.