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

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.

References:

  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 trugeny.com

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.