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.




Genetic Tests & Cancer Awareness

Probably the most worrisome aspect of cancer is the stealthy way in which it strikes, leaving a normal life in absolute tatters. Around 5-10 percent of all cancers are due to inherited genetic mutations. This also includes breast cancer. Surprised? Certain cancer causing markers have been identified in genes and the presence of such markers in your genes could mean that you’d have a high risk rate for being afflicted with cancer. In such a scenario, would just being careful about health in general help? Genetic health counselling and testing are means by which you can be better prepared for any kind of eventuality regarding cancer.

Let’s get a few misconceptions out of the way.

Is genetic testing for everyone?

Yes, anyone can undergo genetic counselling and testing. It can reveal a lot of useful information about your genetic makeup that can impact your health, and well being. This would also include your risk for certain diseases.

Is genetic testing necessary for everyone?

No. If you have concerns regarding your health and/or have seen any family member suffer from a critical ailment like cancer, you can first take up a counselling session to help understand the scope of the test and what can be gained from the test.

Do you need to visit a lab for this?

Not at all. Post the counselling session, if you choose to take up the test, a test kit will be sent to your address. You can follow the instructions to provide a sample of your saliva and send the kit back. After the analysis is done, you will be mailed the test results and have a telephonic or digital conversation to understand the test results. You don’t have to go anywhere.

Is the test costly?

It is a one-time test that tells you of any inherited health risks that you might ever encounter. Considering that it is once in a lifetime, the cost is almost miniscule compared to the setbacks that you could have had if the disease were to strike you suddenly..

Now that those questions are out of the way, let’s take a look at why genetic counselling and testing are helpful for cancer. Hereditary factors, lifestyle, environment, diet, medication and many other factors can be the trigger for cancer even in healthy individuals. If your genes contain one of the many identified mutations that are associated with the risk of cancer, you are in a probable risk group.

Considering breast cancer, hormones, medications are said to be primary triggers for malignant tumours. More than 50 hereditary cancer syndromes have been identified till now and if your tests reveal any of these variants, you can be better prepared for life ahead. You might never encounter cancer however, but staying a step ahead is always better than constantly having to bear the brunt of the physical and physiological trauma of cancer.

Gone are the days when checking for lumps around the breast was the only way to be proactive about breast cancer. Be better armed against cancer by changing your lifestyle, diet and habits, if your genes indicate a problematic variation of a gene. To know more about truGeny’s telegenetic services, please visit www.trugeny.com or book an appointment through this https://trugeny.com/product-page-index.



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




Breast Cancer, the role of genetic tests as a preventative measure

Breast cancer is one of the worst ways cancer can affect someone. It is one of the most common forms of cancers in India as per a survey done by GLOBOCAN. Now here’s an interesting fact. Did you know that around 5-10% of breast cancers are hereditary in nature? That means it is passed on through generations from parent to child. You might wonder then why only certain people encounter breast cancer in their lives, but not the entire generation is affected. That’s the complexity of genes and how they work. Markers that cause cancer to happen can be triggered due to changes in lifestyle, habits, medications and many other factors. While a lot of factors are known nowadays, there are still many causes that are yet to be identified. Here it becomes crucial to understand that one has to toe this fine line very carefully between what’s safe and what’s not.


Keeping all this in consideration, what are the preventative measures that can be taken against breast cancer? Regular self-examinations done in front of a mirror are always great, especially 2-3 days after periods. Checking for changes in the skin tone around the breast and armpit area and for any deformity in the nipples’ shape along with any kind of fluid leaks are the key things to keep in mind. There are a few steps to follow in order to conduct a good physical self-exam. Please refer to the attached image for the same.


Additionally, staying away from alcohol and smoking is a great way to stay safe from triggering any cancer-related markers inadvertently through lifestyle choices. When it comes to physical activity, doing a bit of exercise daily helps in being fit and boosting the immune system. If you are a new mother, it is important to note that breastfeeding is one of the best ways to help prevent the onset of breast cancer. These are all ways in which you can do your bit in staying protected. But disaster doesn’t often come announced. So, what else is an option for you?

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Mammograms are good, but they can only let you know if a tumour has already started developing. There is a way to be proactive even before that. That is through telegenetics. Remember how cancers can be hereditary? If someone among your predecessors ever had a run in with cancer, it is likely that you would be carrying the same marker in your genes. Telegenetics involves a three part process – the initial genetic health consultation, the genetic test and then the explanation of the results and further advice.

In the first part of the process, a genetic counsellor will interact with you to understand your family and your health history. Based on that, you will be advised whether to go for a genetic test or not. Then comes the actual test. This is the simplest part of the process by far. You will be mailed a test kit containing the equipment that will help you provide a sample of your saliva. You can then mail the kit back to the laboratory. After a couple of days, when the test results arrive, your genetic counsellor will start the last part of the process. This includes discussing the test results and letting you know what you should be concerned about and the possible ways in which you can be prepared for any eventuality of breast cancer.

Telegenetics is a better option than just physical checkup because it can be done at almost any age and can let you know if there are any possible risks. Genes do not change with age, so a test done once is good for life. You don’t have to go anywhere to get the test done or to have the counselling and consulting sessions. Counselling and consulting is done via calls or online. Being aware of your genes is a better prerogative than being concerned of any future eventuality without any preparedness. Contact truGeny here https://trugeny.com/ to know more.



Your Genes Matter. Take Charge.




Cancer prevention during COVID-19

Are you being proactive about your health?.

COVID-19 is on everyone’s radar right now. While people are also worried about economy and how to restart businesses, what about your health? From healthcare’s perspective, COVID-19 is categorised as a pandemic, and it is a dangerous infection considering the way in which it can spread from person to person rather easily and can be fatal. Another dreaded disease that takes up attention almost throughout the year but now has been relegated to the backseat is cancer. For patients and survivors, the trauma of cancer lasts way beyond treatment and recovery.

The key question to ask is – just because COVID-19 is here, should all other health concerns be sidelined or put on hold? Well, certain elements of healthcare, such as elective surgeries can be put on hold temporarily and as per doctor’s recommendations, but what about cancer? Patients diagnosed with cancer have to undergo treatments, surgeries and medication regimen, irrespective of a pandemic raging outside. People who lead a lifestyle that relies on alcohol, tobacco or drug abuse might take the occurrence of cancer as unavoidable, but what about those who maintain a healthy lifestyle?

Did you know that at times cancers are inherited through genes? This means, if anyone among your predecessors ever had a history with cancer, you could have a risk of developing cancer in your lifetime, even if you follow the healthiest of lifestyles.

Genetic Counselling & Testing

The best way to combat any disease is to know well in advance about your risk for inheriting the disease, so you can take actions to prevent the onset of the disease or be prepared in the best way possible. Genetic health consultation provides a way for you to understand if you have any probability of risk for diseases including cancer. Genetic counsellors will assess your risk based on your and your family’s health history and then guide you on whether you would need to get a genetic test done to confirm your risk. Genetic testing can help identify if there are specific markers in your genes that indicate a risk of cancer occurrence.

Genetic testing is helpful if there is a certain pattern of cancer in family. If you identify with any of the following, genetic testing may be recommended :

  • Any first-degree relatives (mother, father, brother, sister, children) with cancer

  • The same type of cancer in relatives on one side of the family

  • If there are instances of cancers linked to single gene, such as breast, ovarian, and pancreatic cancers in your family

  • A family member with more than 1 type of cancer

  • If there’s a family who suffered from cancer at a younger age than normal for that type of cancer

  • Close relatives with cancers that are linked to rare hereditary cancer syndromes

  • If there’s a family member with a rare cancer such as male breast cancer, retinoblastoma

  • If any family members have had genetic testing and the reports have identified genetic mutations

Telegenetics

We understand that during these times of COVID-19, stepping out of your home for a genetic counselling session or getting a genetic test done is not safe. This is where telegenetics is a great solution for you to ensure that you do not delay your health decisions. Through telegenetics, one can schedule a consultation online and have a full-length discussion with certified and expert genetic counsellors easily. If you are advised for a genetic test, you can opt for the same and receive a test kit right at your home. Instructions to be followed are very simple regarding the test kit. Once you have submitted the sample, you just wait for a couple of days and your counsellor will get in touch with you to explain your test results and what actions you should be taking to ensure your health is taken care of.



Your Genes Matter. Take Charge.




Cystic Fibrosis

Understanding this Inherited Condition through Prenatal Genetic Testing

The first thing that a baby does once it comes out of the mother’s womb is ….breathe. The sudden transition from a protected environment filled with fluids to an environment where the baby’s body is subjected to new temperature, air, sound and light can be a bit of a shock to the body. The first cry of a baby when it breathes in the first gulp of air, is an indicator that the body has accepted being outside the womb. Cystic fibrosis, an inherited disease, is a major deterrent to this life-supporting process of breathing.

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Cystic fibrosis is a serious inherited disease. It is characterized with buildup of mucus that is thick, sticky and this mucus can cause severe harm to many of the body’s organs. The most commonly affected include:

Some of the most common symptoms include damage to the respiratory system and digestive system. Some of the babies affected with cystic fibrosis have a blockage of intestine.

SO WHAT CAUSES CYSTIC FIBROSIS?

Our body is made up of cells and each of these cells contain DNA that provides the body with coded instructions to make proteins, and this determines how our body develops, functions and even looks. Sometimes, when a DNA is copied from a parent to a child mistakes can happen and this mistake in copying is called a mutation. Mutations can also happen due to
environmental factors, such as UV rays or cigarette smoke etc.

Cystic fibrosis is caused by mutations in the gene that produces the CFTR (cystic fibrosis transmembrane conductance regulator) protein. This protein regulates the flow of fluids and salt to the cells.

All of us have two copies of the CFTR gene. Cystic fibrosis occurs when an individual inherits two copies of the CFTR gene with mutations – one copy from each parent.

People with cystic fibrosis (CF) inherit two copies of the CFTR gene with mutation – one copy from each parent. Which means that each parent must either have cystic fibrosis or be a carrier of the CFTR mutation.

When both parents who are carriers have a child, there’s a 25% chance of having a child with Cystic Fibrosis.

When one parent has cystic fibrosis and the other parent is a carriers, there is a 50% chance of having a child with Cystic Fibrosis

Problems for people with Cystic Fibrosis :

Earlier on cystic fibrosis used to be considered as a fatal disease. However now with better treatments and improved ways to manage the disease, many people with cystic fibrosis live into adulthood.

From pain in the abdomen, persistent cough, repeated lung infections and the inability to gain weight, to more severe physiological problems like delayed development, puberty and slow growth, cystic fibrosis can turn a child from being happy to being in constant pain, emotionally and physically. The mucus o[en damages the pancreas, and also cause a form of diabetes. What’s worse, is that the condition can never be cured, only kept in check through supportive or focused medical care.

SO WHAT CAN BE DONE?

We cannot prevent Cystic fibrosis. When planning for a baby, couples should undergo genetic testing. Genetic testing can help determine the baby’s risk for cystic fibrosis by testing the samples each of the couple. Genetic test can also be performed when the woman is pregnant to learn about her baby’s risk for cystic fibrosis.

Prenatal genetic testing forms a part of genetic health consultation offering from truGeny. Herein, you can find out if your genes potentially carry any such kind of defect that can be passed on to your child, and if yes, truGeny’s certified genetic experts will guide you on next steps. Having a baby is a choice and a huge responsibility in itself. We at truGeny understand that the concerns of parents can start even before they actually become parents. Our telegentic services are aimed towards providing you testing and consultation options from the comfort of your home. If you are interested in knowing more about how to ensure a healthy future for your baby, please contact 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.

Sources:

Genetic Counselling for Heart Diseases under the COVID-19 Lockdown

With the current pandemic situation prevalent across the globe, even urgent healthcare has taken a hit in many places. People with serious lifelong ailments have to stay at home and continue medication and diet. Appointments are being rescheduled and sometimes cancelled as well. For patients with heart conditions, this situation becomes even more critical. In such a scenario, what if we tell you that you don’t have to compromise on your healthcare measures?

truGeny offers genetic counselling and testing for heart conditions even under the COVID-19 lockdown. Telegenetic services ensure that you don’t have to ever leave the safety and comfort of your home for taking care of your health. If you have seen anyone in your family suffer from heart conditions, you might as well know the kind of physical, emotional and mental toll it can take. Being in the same family places you in a risk category for inherited heart diseases.

Modern science still has to understand genes and their complexity completely. What has been uncovered till now depicts that genes contribute towards hereditary diseases, albeit in a lower percentage. Even if one has been following a perfectly healthy regime, hereditary ailments can still happen. The best possible way to protect oneself from such a situation is to be informed and take appropriate preventative measures.

Genetic counseling and testing from truGeny help you understand your family health history and the role your genes play. Thus, you can make a well-informed decision regarding your potential risk of heart disease. Considering the current lockdown situation in place, truGeny is offering you free counseling sessions for a limited time. Telegenetic services are available from truGeny that can help you plan for a healthier you, through being proactive about your cardiac risks while staying safe indoors.

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. 

Prepare your clinical practice for new era of integrated genomic medicine

It is important that clinical practices are up to date with latest technologies which can enhance the clinical outcomes of the patients. A clinician will need to abreast with understanding and using tools which can enable him/her to help their patients. With the advent of genomic medicine which has become an important jigsaw in the completing the patient care puzzle, there is a need to integrate DNA sequencing into clinicians practice. As a result the knowledge base for genetic counseling has become a important step in assisting patients with timely screening, adopting healthy behaviors and making decisions for on obtaining genetic testing or other preventive measures. Counseling for genetic risk deals with multilayered complicated information such as the risk for developing certain diseases and benefits and limitations of various options for predicting or preventing the diseases. Uncertainty is inherent in the information communicated during counseling, making it difficult for patients to fully understand the information provided and causing inconsistency in the perceived meaning of the provided information among patients. Effective communication of the information on risk levels and potential benefits of preventive measures to individuals and their family members is one key element of realizing the benefits of genetic counseling.

One of the recent study Lee SY et al (1) used the Genetic Counseling Outcome Scale (C GOS-24), which is a genetics-specific Patient Reported Outcome Measure (PROM) to evaluate cancer genetics services. The results showed that pre- and post intervention cognitive control and emotional control of patients who had genetic counseling showed significant improvement. These improvements alleviated feelings of being upset and hopelessness. In majority of cases post interventional counseling helped in medical management and adherence (2) and helped in reducing patient costs.  Therefore, integrating genetic counseling into clinical practice can benefit clinicians and their patients in the new era of genomic medicine.

References:

  1. Lee SY et al. J of Clinical Oncology 2018
  2. Sarah R et al Genetics in Medicine 2014