A type of inherited disorder in which there is a higher-than-normal risk of certain types of cancer. Hereditary cancer syndromes are caused by mutations (changes) in certain genes passed from parents to children. In a hereditary cancer syndrome, certain patterns of cancer may be seen within families. These patterns include having several close family members (such as a mother, daughter, and sister) with the same type of cancer, developing cancer at an early age, or having two or more types of cancer develop in the same person. Examples of hereditary cancer syndromes are hereditary breast and ovarian cancer syndrome, Li-Fraumeni syndrome, Cowden syndrome, and Lynch syndrome. Also called family cancer syndrome and inherited cancer syndrome.
An individual who inherits a cancer susceptibility variant always get cancer?
What are the genetic tests available for cancer risk assessment?
Who should consider genetic testing for cancer risk?
What is the role of genetic counselling in genetic testing for a hereditary cancer syndrome?
Role of truGeny
An individual who inherits a cancer susceptibility variant always get cancer?
No. Even if a cancer susceptibility variant is present in a family, it does not necessarily mean that everyone who inherits the variant will develop cancer. Several factors influence whether a given person with the variant will actually develop cancer. One is the penetrance of the variant. When not all people who carry a variant go on to develop the disease associated with that variant, it is said to have incomplete or reduced penetrance. Hereditary cancer syndromes can also vary in their expressivity—that is, people who inherit the variant may vary in the extent to which they show signs and symptoms of the syndrome, including the development of associated cancers. Lifestyle factors and environmental risks can also influence disease expression.
What are the genetic tests available for cancer risk assessment?
More than 50 hereditary cancer syndromes have been described; see the PDQ Cancer Genetics Overview for a list of familial cancer susceptibility syndromes. Most of these are caused by harmful variants that are inherited in an autosomal dominant fashion—that is, a single altered copy of the gene inherited from one parent is enough to increase a person’s chance of developing cancer. For most of these syndromes, genetic tests for harmful variants are available. Tests are also available for several inherited genetic variants that are not associated with named syndromes but have been found to increase cancer risk. Examples include inherited variants in PALB2 (associated with increased risks of breast and pancreatic cancers), CHEK2 (breast and colorectal cancers), BRIP1 (ovarian cancer), and RAD51C and RAD51D (ovarian cancer).
Who should consider genetic testing for cancer risk?
People who are concerned about whether their family history puts them at risk for cancer should consult with a genetic counsellor. The features of a person’s personal or family medical history that, particularly in combination, may suggest a hereditary cancer syndrome include:
Cancer was diagnosed at an unusually young age
Several different types of cancer occurred in the same person
Cancer in both organs in a set of paired organs, such as both kidneys or both breasts
Several first-degree relatives (the parents, siblings, or children of an individual) have the same type of cancer (for
example, a mother, daughter, and sisters with breast cancer); family members with breast or ovarian cancer; family members with colon cancer and endometrial cancer
Unusual cases of a specific cancer type (for example, breast cancer in a man)
The presence of birth defects that are known to be associated with inherited cancer syndromes, such as certain noncancerous (benign) skin growths and skeletal abnormalities associated with neurofibromatosis type 1.
Being a member of a racial or ethnic group that is known to have an increased risk of having a certain inherited cancer
susceptibility syndrome and having one or more of the above features as well
Several family members with cancer
If a person is concerned that they may have an inherited cancer susceptibility syndrome in their family, it is generally
recommended that, when possible, a family member with cancer have genetic counselling and testing first, to identify with more certainty if the cancer in the family is due to an inherited genetic variant. Genetic testing is often more informative if it can begin in a family member with a previous or current cancer diagnosis than in someone who has never had cancer.
If a person in the family has already been found to have an inherited cancer susceptibility syndrome, then any family members who could have inherited the variant should consider genetic testing, even if they have not (yet) had a cancer. Knowing about their risks may help them to prevent a future cancer.
What is the role of genetic counselling in genetic testing for
a hereditary cancer syndrome?
Genetic counselling is generally recommended before any genetic testing for a hereditary cancer syndrome and may also be performed after the test, especially if a positive result is found and a person needs to learn more about the hereditary cancer predisposition syndrome they have been found to have. This counselling should be performed by a trained genetic counsellor or other health care professional who is experienced in cancer genetics. Genetic counselling usually covers many aspects of the testing process, including:
A hereditary cancer risk assessment based on an individual’s personal and family medical history
Explanation of the specific test(s) that might be used and the technical accuracy of the test(s) and their interpretation
The appropriateness of genetic testing and potential harms and benefits of testing
The medical implications of positive, negative, and uncertain test results
The possibility that a test result might not be informative (that is, it might find a variant whose effect on cancer risk is not known)
The psychological risks and benefits of genetic test results
The risk of passing a variant to children
The impact of testing for the family
The best test to perform
Genetic counselling may also include discussing recommendations for preventive care and screening with the patient, referring the patient to support groups and other information resources, and providing emotional support to the person receiving the results.
Learning about these issues is a key part of the informed consent process for genetic testing. Written informed consent is usually obtained before a genetic test is ordered. People give their consent by signing a form saying that they have been told about, and understand, the purpose of the test, its medical implications, its risks and benefits, possible alternatives to the test, and their privacy rights.
Unlike most other medical tests, genetic tests can reveal information not only about the person being tested but also about that person’s relatives. Family relationships can be affected when one member of a family discloses genetic test results that may have implications for other family members. Family members may have different opinions about how useful it is to learn whether they have a disease-related genetic variant. Health discussions may get complicated when some family members know their genetic status while other family members do not want to know. A conversation with genetics professionals may help family members better understand the complicated choices they may face.
Role of truGeny
Genetic Testing is the future of medical treatment. And truGeny is a thorough Genetic Counselling and Testing services platform.
Genetic counsellors from truGeny are certified and will help you in understanding the risk of you inheriting any a genetic cancer risk, by understanding your health and family history. They will further guide you whether you require Genetic Testing. Post the testing process, the experts guide you through your report helping you plan your course of action.
Genetic Counselling and Testing will build a stronger and healthier tomorrow. We believe with your support we can help in bringing the change. Let us join hands together. Let us choose to be healthy, be strong.
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.
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 .
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.
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.
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.
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.
Armstrong J et al. JAMA Oncol 2015;1:1251-60
Sarin R. J Cancer Res Ther 2006;2:157-8
Nilsson MP et al. Breast Cancer Res Treat 2018;168:117-26
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.
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
Every aspiring parent wants nothing but the best for their future baby, within their available resources. It is pretty much normal for Indian couples to be seen fretting about making accommodations in their expenditures, saving up more for the future and cutting down on small luxuries just to ensure that their baby can enjoy everything that they never could as children. Amid all this, a very important fact slips under the notice of everyone. That is the health and physical wellbeing of the baby to-be. But you say you will dote on your pregnant wife, follow the diet pattern prescribed by the doctor and ensure all necessary exercises and medications are followed. What else is left? Birth defects or congenital anomalies account for around 6-7% of the births in India, annually (as per 2016). These can be passed on to your child through your genes. Traditional healthcare offers little help in such situations.”types of birth defects”
Considering 1.7 million birth defects reported in a year (2016), that is not a number to make light of. Genes that make up your body and govern how your system reacts to food, medicines, diet, exercise and the environment, get passed on to your child. The baby receives portions of its DNA from both parents, though it might not exactly be in a 50-50 ratio. Keeping this in mind, if a parent has a genetic structure that tends to be more risk-ridden towards getting diseases, the same can be passed on to the child. Everyone wants a healthy baby and don’t want any future health problems to occur as well. But genetic structure is something that we cannot change for ourselves; at least not through known methods available today. The more pragmatic option however is well within reach – prenatal genetic counselling and testing.
So, what is prenatal genetic counselling and testing all about? Through genetic carrier screening done on prospective parents before a baby is conceived, it can be determined if the baby might have potential susceptibility to certain diseases. It can also be done during the second pregnancy to help determine whether further testing may be considered. This brings us to the question – what diseases can be genetically inherited?
There are close to 15-20 known birth defects around the world and the rate of occurrence differs as per the demography, race and nationality. Out of these, defects related to the heart, brain and blood are commonly found. Like for example, beta thalassemia, in which the genetic defect causes the blood to produce a less than required amount of haemoglobin. Due to this, the body and the brain might not receive the appropriate amount of oxygen, since the blood’s capacity to absorb oxygen is reduced. This can show up as slow muscular and neural development and cause the child to be quite weak. An inherited defect with similar traits is sickle cell anaemia. Perhaps the most common form of defect that would be known to the general public is haemophilia. Due to the inability of the blood to form clots, any minor cut might take longer to heal, and any major accident might lead to severe and possibly fatal blood loss.All these are more are conditions that can be easily found out through genetic counselling and testing. If you are planning for a baby, and taking every precaution that you can, getting a consultation and if needed, testing your genes can reveal a lot of information about the possibilities of health risks that your child could face in the future. Being informed of the same can help you make better decisions about your parenthood and if possible, also be ready for certain health conditions that can be treated through timely medication and support. Prenatal genetic counselling and testing isn’t just for people who are planning to become parents for the first time. It can even help those who have had miscarriages or other complications during an earlier pregnancy. To ensure that your child is born healthy and has no genetic health risks associated, it is imperative that you consult a genetic counsellor when planning for a baby. At truGeny, our team of certified genetic counsellors and highly experienced medical professionals are here to help you out with any question you might have about family planning. Just reach out to us at email@example.com or visit us at www.trugeny.com.
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.
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.