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.

Can a little test change the life of a family forever?

Sometimes the story of a family may not have the happiest of beginnings, but it’s the rest of the story that one can choose and control. It’s easier to solve problems when you have anticipated and prepared with guidance and knowledge.

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Mr. and Mrs. Purohit had returned home after the delivery, with their seemingly healthy baby. It was a tiring week filled with nervousness, joy and bliss. It occupied their minds so much so that they had forgotten about collecting their babies newborn genetic screening test report and having it reviewed.

The genetic screening report of their newborn had returned positive for a sickle cell condition. For the couple, the test result would have gone unnoticed had it not been for the genetic counsellor who called in to update the couple about the report.

After the initial call, the Purohits researched on the internet about sickle cell and armed with a checklist, the young parents had many questions for the genetic counsellor. How different the baby would be from other children of the same age? Would it limit or delay the intellectual growth? Would the baby need additional safety precautions? Does the condition need lifelong medication?
The genetic counsellor explained to the couple that a positive result does not mean that the baby definitely has the disease, but it indicates that further testing (called diagnostic testing) needed to be performed as soon as possible to confirm if indeed the baby does have the disease. The counsellor also reassured the couple that If the baby does have the disease, quick follow-up testing can allow treatment or management of the disease through methods such as a special diet.

Very often while the screening test result is positive, the follow-up diagnostic testing shows that the baby does not have the disease. In such cases, the result of the screening test is described as a “false positive”. It means that the screening test suggested an increased risk of the disease when in diagnosis the baby does not actually have the disease. False positive test results occur because some of the screening tests are designed to identify as many babies affected with treatable diseases as possible.

Fortunately in this case, the baby didn’t have a disease, but was a carrier of the sickle condition.

Sickle cells block blood flow through blood vessels and therefore immediately deprive the affected organ of blood and oxygen. In sickle cell anemia, blood is chronically low on oxygen. Chronic deprivation of oxygen-rich blood can damage nerves and organs in your body, including your kidneys, liver and spleen.

The couple had only recently learnt about genetic counselling and genetic testing as an important tool to assess pregnancy risk or genetic disorder risks to the newborn. Based on this learning, the couple decided to get genetic screening test done for their newborn.

Since 1952, many population groups have been screened in India and the sickle cell gene has been shown to be prevalent among some of the socio-economically disadvantaged ethnic groups. The prevalence of sickle cell carriers among different tribal groups of India varies from 1 to 40 percent. The Purohits hailed from Vidarbha region of Maharashtra where sickle cell gene has been shown to be quite prevalent.

For Mr. and Mrs, Purohit it was the matter turned out to be of less concern, as their child will not suffer from the condition. But not all babies, with their genetic carrier parents will be this fortunate. Many end-up living a life with complexities, some genetic conditions surface a few months after the baby is born. While some conditions become severe during puberty, teenage or as an adult.

Doubts, questions and anticipation are a good start for providing a healthy life to your family. Support from certified genetic counsellors can help you and your family. Thanks to digital technologies, access to this support is just a click away. The value of newborn screening today can become invaluable gift for your child tomorrow. Which part of the story would you like to choose?

Our belief is that beyond the temporary discomfort of hearing the cry from your newborn babt, it’s a small price to pay for ensuring that your baby is healthy and has the best chance for a long life ahead.

So yes, a little test can change the life of a family forever.

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.

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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.

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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.

Steps in Genetic Testing and role of Genetic Counsellors

Breast cancer risks looms on many women, who are unaware. What would they ask if they knew their future risks today? Nobody wants to be in a helpless situation at any point in life. Maybe they would ask a better question today and act wisely. Genetic testing for genetic mutations and hereditary diseases can help you to arrive at questions. A genetic counsellor helps in answering these questions. Genetic counselling goes hand-in-hand with genetic testing for breast cancer. Many women may assume that genetic test provides either a positive or a negative result.”role of genetic counsellors”

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As I learned later, breast cancer genetic test is unlike a diagnostic tests. Diagnostic tests provide results in binary, similar to an exam cut-off list saying “pass or fail”. But now I know genetic test for breast cancer is different, read further to know it yourself and share it with everyone.

Let me tell you about my journey as a health seeker for preventive action against breast cancer. Talking to a genetic counsellor is a pretty relaxing experience in itself. The first time I talked to a genetic counsellor, I felt they ask lots of questions. But the counsellor patiently listened to what I had to say. This discussion helps unravel the personal and family medical history. Busy in daily routine I may have also ignored these “clues” of family health issues. I believe they take use certain medical guidelines to ascertain that all supporting information is collected and looked into. They are trained for this as part of their education and are certified to guide you. Collecting the personal health and family health history is a critical first step and in-depth discussion. I wasn’t persuaded to go for testing unnecessarily. I felt happy that the decision of opting for a genetic test or not opting for it, was in my hands.

The genetic counsellor also told me about the steps involved in genetic testing for BRCA mutations. There are tests that can look into DNA genetic cancer risk test and hereditary cancer risk test. Women who have a family member with breast cancer, have a certain degree of increased risk. Depending on my health and family’s health history the genetic counsellor may suggest a particular type of test. If I decide to be tested, a sample of blood or saliva will be collected. It is analysed in the laboratory and reports are prepared. It will have statistic estimation of my risk of cancer based on the BRCA and other genetic mutations. Having one or multiple genetic mutation may not necessarily result in acquiring the disease. But it increases the risks and predisposition to breast cancer.

The role of a genetic counsellor doesn’t end after the report is provided to me or my Doctor. Post the test, the genetic counsellor will discuss and explain how the results affect my risk of cancer. Almost every year there are new developments in genetic science. There’s a need for an expert who can utilise scientific and medical knowledge and explain the pros and cons in a simple language. With new developments, there could be new findings for my own health. As a layman I liked the lucidness of the discussion with genetic counsellor and would like to relook at my risks every couple of years.

If you are thinking that genetic counselling and testing is what you need to assess breast cancer risk for you or a loved one. I have prepared a few questions, you can ask these questions to a genetic counsellor at truGeny.

  • How can my family history show a risk of breast cancer?
  • Should I be tested if a family member or a relative had suffered from the disease?
  • How can I reduce my risks or prevent breast cancer?
  • I have delayed my pregnancy, will it increase risk?
  • Which test is suited, how reliable is the test?
  • How does age, body weight, diet affect the risks?
  • If the test results show risk, then what will I do next?

Having a predisposition to breast cancer could mean, you have to be on an increased surveillance, consult Doctor for medication to lower your risk or consult an oncologist. If there’s no risk to you, that’’s good news. Delaying a step or taking a decision without complete understanding could aggravate issues later. Always remember that it is about your femininity, family and positivity in life. Let’s take a proactive approach to health.

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Will your future child look like your father or your mother? One simple talk can help you learn.

Like mother, like daughter or grandfather’s curly hairs or even a distant-aunt’s hazel eyes. Family resemblance is easy to notice from an early age. The part of the face that is the most ‘handed down’ is the tip of the nose, and the area just below it, known as the philtrum, a scientific study has found. The study created a map of the faces to represent the heritability of each part of the face. It found that the tip of the nose is around 66 per cent likely to be the result of your parents’ genes, and the philtrum (middle area of the upper lip) around 62 per cent. These areas, as well as the cheekbones and the inner corner of the eye were found to be most influenced by genetics.

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Isn’t the science and result of genetics extraordinary. As the child is growing-up there are striking resemblance in behaviours, food liking, choice of sports or even performance in studies. The pedigree of resemblance could be dominated by one the father’s or mother’s genes or can be a few mixed characteristics from parents, grandparents or second degree blood relatives. If a jovial friend asked you “Will your future child look like your father or your mother?”. It would be good fun to reply to that not sure about the looks, but the future kid would sing well just like me!

But do you ever worry that a health condition can also be passed from one generation to the next. Having an answer to this question can give you a feeling of reassurance, and confidence with a sense of control over your’s and family’s future.

As a parent you may have many obligations, some are for yourself, some are for your loved ones. Wouldn’t you want to find out more about how your genetics will influence your future child’s health and life. This is where a genetic counsellor can help you. They are trained to talk you, listen to you, understand, ask questions, analyse circumstances and interpret medical data from a genetic test. They can be your guide in helping you take an informed decision for better health and happiness.

If this blog coincides with a forthcoming happy news of your life then you may find value in talking to a genetic counsellor at truGeny. If you think you would want to spread the word about genetic counselling, we encourage you to share with your friends and family members. Next time you meet your jovial friend at a marriage or a maternity home, you may have a valuable suggestion to give. Let’s take a proactive approach to health.

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Recent Blogs

Genetic Testing Helps Identify Inherited Heart Condition

Top 5 Genetic Birth Disorders – An Overview