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 –

He stood there for a long time. Tami Joan and John desperately retreated until they reached the other side of the door, holding two sweaty bodies tightly together. The drivers hand bent into the shape of a cup, blocking the lights shone on how do male enhancement pills work the street light, looked at them more carefully. Suddenly, a loud noise echoed in the what are the best male enhancement pills air. Tameron could not help but constricted a while, and John made a short, screaming scream. what are the best male enhancement pills Behind the driver, the air in the distance was filled with bright red and best male enhancement pills that work blue flame stripes what male enhancement pills make you bigger instantly. Then again is a few roar and scream. what male enhancement pills make you bigger The driver turns what male enhancement pills make you bigger and looks up, what are the best male enhancement pills just to see a what male enhancement pills make you bigger huge, orange-red cobweb over the best male enhancement pills that work how do male enhancement pills work city. what male enhancement pills make you bigger It best male enhancement pills that work was a fireworks, and Tamie remembered the news read in the newspaper. It is a gift from what male enhancement pills make you bigger the host and the Secretary-General of the how do male enhancement pills work United Nations to how do male enhancement pills work the best male enhancement pills that work delegates attending the conference and welcomes them to this best male enhancement pills that work great city on Earth. what are the best male enhancement pills The how do male enhancement pills work driver turned toward the taxi again. Pat soon, he opened the door lock, slowly opened the door. 2 As usual, the informant did not leave a name. Therefore, what are the best male enhancement pills there is no other way to pour back into the past to understand what the reporter best male enhancement pills that work said is a piece of open space. The headquarters radio best male enhancement pills that work said He said it was on the 37th what male enhancement pills make you bigger Street near Eleventh Street. Those what male enhancement pills make you bigger at the Notification Center never figured out where the exact what are the best male enhancement pills location of the murder was. Although it is nine oclock in the morning, it has made people sweat more than hot. Emilia Shakes lay aside what are the best male enhancement pills a tall best male enhancement pills that work grass thatch. She is conducting a search of light – a jargon of crime scene what male enhancement pills make you bigger best male enhancement pills that work investigators – searching for suspicious objects with an S-shaped route. Nothing at all She what are the best male enhancement pills looked down at the intercom on the dark blue uniform shirt. Patrolman 5885 calls headquarters without any how do male enhancement pills work notice. Do you have any further what are the best male enhancement pills news The dispatcher replied in best male enhancement pills that work a bumpy noise 5885, there is no more information about the scene of the crime at the moment, but one thing The informant how do male enhancement pills work said he hoped how do male enhancement pills work the victim was dead. Please what male enhancement pills make you bigger say it again, headquarters. The complainant said he hoped the what male enhancement pills make you bigger victim was already dead. He said it what are the best male enhancement pills would be best if so. what are the best male enhancement pills Finished. Hopefully the victim Dead Shakes struggled across a best male enhancement pills that work broken barbed wire and began searching for another piece of what are the best male enhancement pills open space. Still not found. She wants to leave. Just call 10-90, report that without any discovery, you can return best male enhancement pills that work to the Si Si area, it is her daily patrol area. Her how do male enhancement pills work knees hurt and she felt as if she had been roasted on a terrible August best male enhancement pills that work day. She just wanted to slip to best male enhancement pills that work the Port Authority and get stuck with the Little Furrier there and come back to a large can of Arizona iced tea. Then, at eleven thirty – just two hours now – she was able to clear the drawers in the south section of Midtown and go to the how do male enhancement pills work lower town for training. But she what male enhancement pills make you bigger finally did not do this. She can not leave this briefing without answering the how do male enhancement pills work phone call. As she continued to move on, she walked along the hot sidewalk through the path between the two abandoned apartments and into another covered, planted area. She slid her slender forefinger down into her flat-top hat what male enhancement pills make you bigger and scratched it with irresistible restraints through layers of long, red hair on her head. In order to scratch more scalp, she simply faded how do male enhancement pills work her cap side, while crazy scratch. best male enhancement pills that work Sweat streaming down her forehead, what male enhancement pills make you bigger itchy, so she fiercely blew a few brows. Ho Show Wu ExtractIt’s an aphrodisiac that helps to improve sperm function and what are the best male enhancement pills testosterone what are the best male enhancement pills levels. The ingredient has how do male enhancement pills work anti-aging properties to what male enhancement pills make you bigger which act on testicular cells, improving sperm production.PregnenolonePregnenolone is a hormone that occurs naturally and helps in the production of the sex hormone, including testosterone. It converts t-hormone what are the best male enhancement pills into testosterone.Other ExtenZe ingredients: Astragalus root Damiana what male enhancement pills make you bigger leaf Hops how do male enhancement pills work extract Muira Puama extract how do male enhancement pills work Cnidium Extract Stinging Nettle Extract Click here to See the best male enhancement pills that work Full what are the best male enhancement pills List of Ingredients in ExtenZe on their Official Website.Pros Comes with 6o day money-back guarantee Only one pill needed every day improved erections Better sex drive Enjoyable orgasms Made from natural how do male enhancement pills work ingredientsCons Some ingredients in ExtenZe may have side effects Results vary greatly with people Only available on their Official Website Customer Experience Customer experience varies between individuals. Some customers said they attained satisfaction with the help of the supplement. But their other customers said they didn’t experience any changes after using ExtenZe. Others said the product works, but it also causes negative side effects like anxiety.

  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. 

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.

genetic counsellor, genetic counselling, genetic counselling in india, trugeny

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.

genetic counsellor, genetic counselling, genetic counselling in india, trugeny
Recent Blogs

Genetic Testing Helps Identify Inherited Heart Condition


Top 5 Genetic Birth Disorders – An Overview

My husband’s paternal grandmother had breast cancer. What is the genetic probability that my children might get it?

Genes are the pieces of our DNA code that carry the instructions that make our bodies function. We have two copies of every gene; one from our father and one from our mother. If you’ve ever wondered what family history of breast cancer means for your children’s genetic risks, your concern is valid. If either the husband’s or wife’s side had an older family member who was diagnosed with breast cancer, people get concerned about it and ask, would that result in an increased risk for my children?

genetic counselling for breast cancer, breast cancer, types of cancer, truGeny

Uncertainty and lack of knowledge may lead you to believe that it’s all in destiny. I beg your pardon ma’am, for lack of a better word I would like to say it’s all in the probability. The risk of breast cancer can be assessed and solutions can be deployed for prevention or management. Thanks to the advancement in the science of genetics and medical technologies.

If you are worried, to keep you on the positive side we would like to say that calm down, you’re not alone. Most of us are aware that cancer is due to genetic changes. We can divide it further into two risk categories:

  • Hereditary or Germline Mutation: There is an inherited variation in different genes, which can lead to cancer that runs in families.
  • omatic or Sporadic Mutation: It means the genetic changes in your old granny could be only in the tumor, and it is not passed onto your children.

Mutations on the BRCA genes are often passed from parent to child, increasing the risk of various types of cancer, including breast and ovarian cancer. If a family had a mutation in the BRCA-1 gene, one relative might get breast cancer, but someone else might get ovarian cancer.

genetic counselling for breast cancer, breast cancer, types of cancer, truGeny

Now, if I think my husband’s paternal grandmother had breast cancer and my children may be at risk, I would want to look for certain clues for which I may have to gather more information. If cancer runs in my family, I will see cancers among more than one relative, sometimes even four or five relatives. And I can check if it occurred to them at a younger age. In the early 1990s about 70% of cancer patients were older than 50 years of age. If a grandparent or blood relative suffered from breast cancer or cervical cancer at an early stage, it is a red-flag situation. I may also try to find answers to these questions:

  • Which relatives have had cancer?
  • What was the cancer type?
  • How aggressive was cancer?
  • When was the relative diagnosed (age)?
  • Place of birth and community genetic pool variation (different communities in India have different community customs e.g. marriages among cousins. Living in some locations has increased risk of cancer due to environmental or chemical exposure e.g. pesticide use in some parts of Kerala and Punjab).
  • A genetic evaluation can be carried out based on the answers. If I do not get answers to all these questions, I would want to think of a genetic test. Having information for the above-mentioned questions will help the genetic counsellor to understand my situation better. Based on the genetic report the genetic counsellor can assess my family’s risk for breast cancer. This small step today can be highly useful when your daughter grows up. There could be better technology and more advanced remedies when she becomes an adult. As today we have vaccines for many diseases, potentially there could one for a girl or a boy at a genetic predisposition. Genetic counseling and early risk-reduction plan for breast cancer will not only provide future benefits for family, it may also help you feel more at ease right now.

    Recent Blogs

    Genetic Testing Helps Identify Inherited Heart Condition


    Top 5 Genetic Birth Disorders – An Overview

    Should clinicians recommend genetic counselling to family members of patients with breast cancer history?

    Breast cancer is now the most common cancer in most cities in India, and 2nd most common in rural areas. According to a 2017 study published in Asia-Pacific Journal of Clinical Oncology 1, the age-adjusted incidence rate of breast cancer was found as high as 41 per 100,000 women for Delhi. A study estimates the incidence of breast cancer in India is likely to grow to 2,35,490 by the year 2026 2, compared to 1,62,468 newly registered cases in 2018.

    genetic counselling for family member, genetic counselling for family, genetic counselling for breast cancer, truGeny

    According to a recent study 7, prevalence of BRCA (BReast CAncer) gene mutations in the Indian population is at least three times higher than in the western world. The same study also revealed that 72% of the first degree relatives (parents, children, siblings) of cancer patients who underwent testing were found to be positive for the same mutation responsible for the cancer in the family. In addition, mutations in other genes are also associated with occurrence and recurrence of breast cancer. To date, 182 breast cancer susceptibility mutations have been identified for breast cancer, increasing understanding of the heritability of breast cancer. However, this list is expected to grow with evolving technologies and advanced research.

    It is important to identify cancer patients with inherited mutations because the presence of germline variants may strongly influence their close relatives and put them at risk to develop cancer, for example, BRCA1/2 testing can identify healthy BRCA1/2 mutation carriers at high risk and thereby prevent cancer and cancer-related deaths through increased surveillance and prophylactic surgery. Hence, family history remains a good significant indicator for planning breast cancer surveillance

    Evolving technologies

    The advent of next generation sequencing has made genetic testing more affordable and efficient through the use of multigene panels 3, 4. This powerful technology has expanded the genetic testing options available to patients and providers. Accordingly, genetic tests for clinical purposes have risen from 300 to 3000 in 20 years 5. Patients and providers now have an array of testing options from which to select, and clinical interpretation of the test results poses a challenge.

    genetic counselling for family member, genetic counselling for family, genetic counselling for breast cancer, truGeny

    The field of genetic counselling is determined to fill this gap.

    Genetic counsellor skills include calculating occurrence & recurrence risks, determining appropriate testing, identifying risks to other family members and suggest risk management under clinical guidance. Not only genetic counsellors play an important role in variant interpretation and report writing, they are also critical in helping patients and providers interpret genetic test results and incorporate them into patient care 6. Patients may also utilize this information to assist relatives with decisions regarding genetic counselling and testing.

    How genetic counselling plays a complimentary interplay role between Genetics and Medicine / Clinicians

    • Many different genes can underlie the same disease phenotype for breast cancer complicating test selection for the providers. Genetic counsellors are adept at making sure the right test is chosen for a patient.

    genetic counselling for family member, genetic counselling for family, genetic counselling for breast cancer, truGeny

    • Genetic counsellors are able to practice independently of a physician since a physical exam is not always necessary. Since the primary concern in cancer families is usually isolated to tumors/cancer, the genetic counsellor is able to perform an efficient and focused medical and family history by telephone or videoconferencing.
    • Finally, individuals undergoing genetic testing for cancer susceptibility are frequently unaffected and may not otherwise be engaged with a tertiary medical center with access to genetic services. These individuals in particular may benefit from a consolidated approach to the provision of genetic counselling and testing services.

    The availability of multi-gene panels has become particularly widespread in the specialty of hereditary cancers. Without appropriate education about the available tests, their limitations, as well as interpretation of the results, there is a risk that patients will not gain the full benefit of this technology. Moreover, there is a risk that patients may make important health care decisions based on self-interpreted or inaccurate or incomplete information without guidance from a clinician or counsellor, resulting in potential harm to the patient. In such a scenario, genetic counsellors serve as a central resource of genetic information and helps patients and their families to understand the test results, and help them make informed choices.

    In addition, genetic counsellors can assist clinicians to study the patient’s family health history in greater detail, evaluate an inherited condition, if present, guide the patient to the right genetic test and interpret the results. The clinicians can then make informed decisions regarding effective management of their patients which in return helpful to assist patient’s relatives who are at high risk. In this manner, the clinician is able to incorporate current knowledge of medical genetics and genomics into their routine clinical practice.

    At truGeny, our certified genetic counsellors will help translate genetic information into clinical practice while navigating the psychological, ethical and legal pitfalls. To ensure access to quality genetic services for all individuals, truGeny offers genetic counselling services via tele-genetic sessions with a vision to improve patient’s access to health care in areas with geographical barriers, reducing the cost burden and saving time.

    References

    1. Malvia, S., Bagadi, S. A., Dubey, U. S., & Saxena, S. (2017). Epidemiology of breast cancer in Indian women. Asia‐Pacific Journal of Clinical Oncology, 13(4), 289-295.
    2. Dsouza, N. D., Murthy, N. S., & Aras, R. Y. (2013). Projection of cancer incident cases for India-till 2026. Asian Pacific Journal of cancer prevention, 14(7), 4379-4386.
    3. LaDuca, H., Stuenkel, A. J., Dolinsky, J. S., Keiles, S., Tandy, S., Pesaran, T., … & Shah, D. (2014). Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genetics in medicine, 16(11), 830.
    4. National Human Genome Research Institute. (2016). The Cost of Sequencing a Human Genome. 2016; Retrieved from http://www.genome.gov/sequencingcosts/
    5. GeneTests. GeneTestsReviews. Available at www.ncbi.nlm.gov/sites/GeneTests (accessed 30 July 2014)
    6. Swanson, A., Ramos, E., & Snyder, H. (2014). Next generation sequencing is the impetus for the next generation of laboratory-based genetic counselors. Journal of Genetic Counseling,23, 647–654.
    7. Mannan, A. U., Singh, J., Lakshmikeshava, R., Thota, N., Singh, S., Sowmya, T. S., … & Chandrasekar, A. (2016). Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India. Journal of human genetics, 61(6), 515.

    What genes could help to predict recurrence in breast cancer?

    Breast cancer remains a major health problem, even with the latest advancements in technology and research. According to the National cancer registry- India, breast cancer is the most common cancer in India accounting for 27% of all cancers in women. As per recent estimations, 1 in every 28 Indian women is likely to develop breast cancer during her lifetime, and 1 in every two women newly diagnosed with breast cancer pass away due to the disease. Early intervention has made an impact, but often a major concern for a large number of breast cancer patients is facing cancer again or “recurrence”.

    breast cancer recurrence, recurrence of breast cancer, predict recurrence of breast cancer, predict recurrence in cancer, truGeny

    Recurrence of breast cancer is clinically a huge problem and represents the principal cause of breast cancer-related deaths 1. As per the data from population and hospital-based cancer registries, a lot of patients in India are being diagnosed with breast cancer in their late 20s or early 30s. The risk of recurrence was directly tied to original cancer’s size and characteristics, age below 40 years, adjuvant systemic therapy and to the number of lymph nodes that were cancerous.

    The highest risk of recurrence for breast cancer patients is during the first 2 to 5 years following treatment, but however, recurrence can happen even after many years. A 2017 study 2 published in the New England Journal of Medicine reported that even 20 years after a diagnosis, women with breast cancer fueled by estrogen still face a substantial risk of cancer recurrence or spreading. So, what factors play a major role in breast cancer recurrence?

    Do molecular factors influence breast cancer recurrence?

    Other than BRCA 1/2 genetic mutations that account for up to 80% of risk of developing breast cancer, there are a number of other genes, including ATM, BARD1, BRIP1, CASP8, CTLA4, CYP19A1, FGFR2, H19, LSP1, MAP3K1, MRE11A, NBN, RAD51, and TERT, that are thought to also increase the risk of developing breast cancer when they carry a mutation. Breast cancer is a complex disease in which a number of cellular pathways involving cell growth and proliferation are altered. A number of studies have tried to predict molecular patterns for breast cancer recurrence. This includes studies in various breast cancer subtypes wherein breast cancers are characterized by the presence of receptors such as estrogen receptor (ER), progesterone receptor (PR), and HER2/ErbB2 receptor (HER2). Some studies suggested that ER-negative breast cancers are associated with a higher risk of recurrence during the initial 5 years after diagnosis, compared to ER-positive breast cancers.

    breast cancer recurrence, recurrence of breast cancer, predict recurrence of breast cancer, predict recurrence in cancer, truGeny

    Further research revealed that over-expression of HER2 gene is found almost exclusively in breast cancer patients which is associated with higher recurrence rates and lower response to chemotherapy or hormone therapy 3, 4. However, the causes of breast cancer recurrence and the possible strategies to prevent it remain elusive. Breast cancer mortality is largely related to either resistance to therapies or metastasis to distant organs, all of which contribute to recurrence. Hence, early detection and better surveillance plays a pivotal role in reducing the recurrence of breast cancer and mortality rates.

    How genetic counselling alters the situation

    Genetic counsellors are healthcare providers who are trained in genetics and the psychological effects of learning about the inherited risk. Their skills include assessing the patient’s personal health history and their complete family history very thoroughly. They make an estimate of which genes are relevant to test by drawing a family tree, a pedigree, with all the cancers in the family. They will explain to the patient about the genetic testing options and their current limitations. Genetic counsellors provide individuals with an accurate assessment of their personal risk for developing breast cancer and offer a plan for follow-up and preventive care. Genetic counsellors also suggest management options to the individuals to reduce the risk of recurrence of cancer and for early detection.

    breast cancer recurrence, recurrence of breast cancer, predict recurrence of breast cancer, predict recurrence in cancer, truGeny

    At truGeny, our certified genetic counsellors will help translate genetic information into clinical practice while navigating the psychological, ethical and legal pitfalls. To ensure access to quality genetic services for all individuals, truGeny offers genetic counselling services via tele-genetic sessions with a vision to improve patient’s access to health care in areas with geographical barriers, reducing the cost burden and saving time.

    References

    1. Moody, S. E., Perez, D., Pan, T. C., Sarkisian, C. J., Portocarrero, C. P., Sterner, C. J., … & Chodosh, L. A. (2005). The transcriptional repressor Snail promotes mammary tumor recurrence. Cancer cell, 8(3), 197-209.
    2. Pan, H., Gray, R., Braybrooke, J., Davies, C., Taylor, C., McGale, P., … & Hayes, D. F. (2017). 20-year risks of breast-cancer recurrence after stopping endocrine therapy at 5 years. New England Journal of Medicine, 377(19), 1836-1846.
    3. Klapper, L. N., Kirschbaum, M. H., Seta, M., & Yarden, Y. (1999). Biochemical and clinical implications of the ErbB/HER signaling network of growth factor receptors. In Advances in cancer research (Vol. 77, pp. 25-79). Academic Press.
    4. Ross, J. S., Fletcher, J. A., Bloom, K. J., Linette, G. P., Stec, J., Symmans, W. F., … & Hortobagyi, G. N. (2004). Targeted therapy in breast cancer: the HER-2/neu gene and protein. Molecular & Cellular Proteomics, 3(4), 379-398.

    Poor air quality leading to poor health

    22 of the world’s 30 most polluted cities are in India! If you are continuing reading this then there’s a high chance you are living in one of these cities and are concerned about your health. Social media posts about pollution levels went viral this time again during Diwali eve and a public health emergency was declared on 1st November. If you are in Delhi chances are that you have already inhaled the toxic air and suffered irritation of eyes and skin, nausea and breathlessness.”poor air quality health effects”

    lung cancer, lung cancers, lung cancer treatment, lung cancer in india,poor air quality health effects, truGeny

    Such conditions have proved that lung cancer disease is no longer a smoker’s disease. An NGO working on lung health awareness in India reports that smokers and non-smokers are at risk equally now. The toxic air of the city or chemicals in cigarettes causes damage to the cellular DNA over a prolonged period. Smoking reduces the body’s ability to prevent the formation of cancerous cells. The reason why particulate matter 10 and particulate matter 2.5 cause particles damage DNA in cells and causes cancer is not fully understood yet. However, various research studies have time and again established the causal links of emission pollutants such as sulphur dioxide with lung cancers. Genetic factors can also be a contributing factor. A study found that history of bronchitis, pneumonia and emphysema were shown to have a higher risk of developing lung cancer.

    Citizens on social media were discussing and debating on the issues of air quality and its effect on health. One couple was unhappy about the situation and wanted to move out of Delhi citing the health concerns of their asthmatic child. A twitterati went on to say that nothing can compensate for cancer and respiratory illnesses caused by the polluted air. A worried mother posted “Our kids are dying in Delhi-NCR, minute by minute, breath by breath.” Doctors have warned that even though the impact of #AirPollution may not be immediately visible, it may have long-term effects, especially for pregnant women & their unborn babies. To understand the risks of your respiratory health issues on your children and unborn babies you can check for hereditary risks. A genetic medical counsellor can explain and help you understand better.

    Lung cancer can be caused by shared environmental exposures, an inherited susceptibility or a combination of both. Unfortunately there’s a shortage of specialist doctors in India, pulmonologists may not be accessible easily. If you are thinking of taking a proactive step to prevent or understand your genetic susceptibility to lung diseases, you can talk to a certified genetic medical counsellor. Speaking with truGeny genetic medical counsellor can help you identify your risks of hereditary or sporadic lung cancers. If you have a family member with a history of lung cancer, you are encouraged for genetic counselling to fully understand your risks. The information from the genetic counselling and test can help you and your doctor take steps for better health. Take a proactive approach to health today.

    How genetic counselling helps in the early detection of pancreatic cancer – The best chance for a cure

    Pancreatic cancer is the 4th leading cause of cancer-related deaths worldwide 1,2 . As per GLOBOCAN 2018 estimates 5, pancreatic cancer has ranked the 11th most common cancer in the world counting 458,918 new cases (2.5% of all cancers registered worldwide) and causing 432,242 deaths (4.5% of all cancer-related deaths) in 2018. Pancreatic cancer is rarely diagnosed before 55 years of age, and the highest incidence is reported in people over 70 years6. The 5-year survival rate of pancreatic cancer still stands at 9% only 3, despite advancements in the detection and management.

    genetic counseling for pancreatic cancer, pancreatic cancer, truGeny

    Pancreatic cancer is mostly diagnosed in an advanced stage, and 80-90% of patients have unresectable tumors at the moment of diagnosis because early-stage pancreatic cancer is usually clinically silent. In addition, pancreatic cancer patients undergoing therapy, chemo-radiation is not effective and sometimes after detection, 30% of cancer goes undetectable during surgery. These patients, even after surgery, survive for only five years and again develop the disease in later life.

    Hence, an important strategy for improving outcome in patients with pancreatic cancer and to clinically impact disease progression would be through early detection. This is where genetic testing technology is determined to fill the gap. The advent of next generation sequencing technology has expanded the genetic testing options available to patients and providers. Accordingly, genetic tests for clinical purposes have risen from 300 to 3000 in 20 years 14. Patients and providers now have an array of testing options from which to select, and clinical interpretation of the test results poses a challenge.

    Hence, in this era of precision oncology, genetic counselling help advice patients on risks and benefits of genetic testing and aims to provide more personalized cancer risk assessment with a better understanding of inheritance patterns.

    Genetic counselling – A crucial consideration

    Knowledge of diverse pancreatic cancer syndromes and their management is crucial in assessing genetic risk and performing a clinical service with a high professional standard. While a massive influx of genetic data from genetic tests could help in identifying population patterns, create new risk analytics, and develop innovative therapies for rare conditions, clinicians may still feel unprepared to address genetic issues and answer a slew of time-consuming questions from individuals who may feel overly anxious about their test results.

    genetic counseling for pancreatic cancer, pancreatic cancer, truGeny

    Genetic counsellors play an important role in the management of unknown, rare, minor risk, and major risk variants of pancreatic cancer, as well as identifying which findings represent new insights that will strengthen medical decision making. Results from a study 4 reported a high yield for the identification of Pancreatic Cancer-associated mutations when clinicians partner with an experienced genetic counsellor, suggesting their beneficial role in clinical practice. Genetic counsellors can assist clinicians to study the patient’s family health history in greater detail, evaluate an inherited condition, if present, guide the patient to the right genetic test and interpret the results. Also, genetic counsellor’s finds out the risk that the disease may happen again in the family and guide individuals and family members make informed choices for both risk management and prevention.

    Tele-genetic counselling to ensure optimal access

    Access, time, and patient cost barriers likely contribute to disparities in both uptake and outcomes of genetic services. Few studies 7,8 claimed that patients are required to travel long distances to access in-person genetic counselling and often many patients proceed with testing without a genetic provider or do not proceed with testing at all. In such scenario, genetic testing with a non-genetic provider has been associated with inappropriate and unnecessary testing, leading to increased anxiety in patients as well as health care costs 9,10.

    genetic counseling for pancreatic cancer, pancreatic cancer, truGeny

    While BRCA1 mutation is associated with a small increased risk; mutation in the BRCA2 gene is associated with a 3 to 10 fold increased risk of developing pancreatic cancer. Two large multicenter randomized studies 11,12 found that telephone genetic counselling is equally beneficial to in-person counselling for cognitive and affective outcomes with BRCA1/2 testing. In 2018, a randomized multicenter COGENT (Communication of Genetic Test Results by Telephone) study 13, which included multigene cancer panel testing, confirmed non-inferiority of telephone disclosure of genetic test results compared with in-person disclosure. These studies provide evidence that in the current era of multigene cancer panel testing and to realize the benefits of precision oncology, tele-genetic counselling is an acceptable alternative to in-person genetic counselling.

    At truGeny – a telegenetic platform, we offer genetic counselling services via tele-genetic sessions with a vision to ensure access to quality genetic services for all individuals and to improve patient’s access to health care in areas with geographical barriers, reducing the cost burden and saving time.

    References

    1. Ferlay, J., Steliarova-Foucher, E., Lortet-Tieulent, J., Rosso, S., Coebergh, J. W. W., Comber, H., … & Bray, F. (2013). Cancer incidence and mortality patterns in Europe: estimates for 40 countries in 2012. European journal of cancer, 49(6), 1374-1403.
    2. Siegel, R. L., Miller, K. D., & Jemal, A. (2016). Cancer statistics, 2016. CA: a cancer journal for clinicians, 66(1), 7-30.
    3. Rawla, P., Sunkara, T., & Gaduputi, V. (2019). Epidemiology of Pancreatic Cancer: Global Trends, Etiology and Risk Factors. World journal of oncology, 10(1), 10.
    4. Geurts, J., Evans, D. B., & Tsai, S. (2015). Genetic screening for patients with pancreatic cancer: Frequency of high-risk mutations.
    5. Bray, F., Ferlay, J., Soerjomataram, I., Siegel, R. L., Torre, L. A., & Jemal, A. (2018). Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA: a cancer journal for clinicians, 68(6), 394-424.
    6. Bosetti, C., Bertuccio, P., Negri, E., La Vecchia, C., Zeegers, M. P., & Boffetta, P. (2012). Pancreatic cancer: overview of descriptive epidemiology. Molecular carcinogenesis, 51(1), 3-13.
    7. Cohen, S. A., Marvin, M. L., Riley, B. D., Vig, H. S., Rousseau, J. A., & Gustafson, S. L. (2013). Identification of genetic counseling service delivery models in practice: a report from the NSGC Service Delivery Model Task Force. Journal of genetic counseling, 22(4), 411-421.
    8. Hoskovec, J. M., Bennett, R. L., Carey, M. E., DaVanzo, J. E., Dougherty, M., Hahn, S. E., … & Wicklund, C. A. (2018). Projecting the supply and demand for certified genetic counselors: a workforce study. Journal of Genetic Counseling, 27(1), 16-20.
    9. Mahon, S. M. (2017). Errors in Genetic Testing: Common causes and strategies for prevention. Clinical journal of oncology nursing, 21(6).
    10. Cragun, D., Lewis, C., Camperlengo, L., & Pal, T. (2016, March). Hereditary cancer: example of a public health approach to ensure population health benefits of genetic medicine. In Healthcare (Vol. 4, No. 1, p. 6). Multidisciplinary Digital Publishing Institute.
    11. Kinney, A. Y., Butler, K. M., Schwartz, M. D., Mandelblatt, J. S., Boucher, K. M., Pappas, L. M., … & Buys, S. S. (2014). Expanding access to BRCA1/2 genetic counseling with telephone delivery: a cluster randomized trial. JNCI: Journal of the National Cancer Institute, 106(12).
    12. Kinney, A. Y., Steffen, L. E., Brumbach, B. H., Kohlmann, W., Du, R., Lee, J. H., … & Campo, R. A. (2016). Randomized noninferiority trial of telephone delivery of BRCA1/2 genetic counseling compared with in-person counseling: 1-year follow-up. Journal of Clinical Oncology, 34(24), 2914.
    13. Bradbury, A. R., Patrick-Miller, L. J., Egleston, B. L., Domchek, S. M., Olopade, O. I., Hall, M. J., … & Fetzer, D. (2017). Extended follow-up in the COGENT study: A randomized study of in-person versus telephone disclosure of cancer genetic test results.
    14. GeneTests. GeneTestsReviews. Available at www.ncbi.nlm.gov/sites/GeneTests (accessed 30 July 2014)

    Genetic Counselling – Preventive Action For Breast Cancer

    We are the new-age women. We multi-task, lead, support and live fearlessly. But it surprises me as to how little we care about our own health and well-being. One of my best-friends from my post-graduation college days is Krusha. Despite our hectic work schedules, we still try to catch-up for a coffee, hang-out, or even go shopping together on weekends. Professionally she has grown to become a good team-leader and has much bigger career plans after marriage.

    When we met up recently she told me that she was worried about breast cancer after looking at a billboard for chemotherapy. What struck her was the advertisement for cancer chemotherapy and the cost for it. On one hand she didn’t like the idea of openly advertising for healthcare treatment – not all people who pass the street should be considered as patients. But the AD also drove in a concern – a concern for her own health. How could she protect herself from breast cancer? Krusha’s second thought is also the very reason for writing this blog. I believe every woman should read and act on it.

    For any woman breast cancer can be a concern, especially if it has affected a family member, friends or a colleague. I know of three cases of cancers within my own extended family. Just recently one of our neighbours unfortunately succumbed to oral cancer. Many a time Cancer can be fatal and for survivors it alters lives and relationships significantly.

    genetic counseling for breast cancer, breast cancer, genetic counseling for cancer, trugeny

    Genetic counselling – A crucial consideration

    When I think of these scenarios, the most advised proverb comes to mind “prevention is better than cure”. Well as they say easier said than done? So how do I prevent cancers? That’s when I started digging up and researching on breast cancer. Now I believe that yes, you can reduce uncertainity by being proactive. Cancer formation takes several years. Many scientific papers say that tumour formation takes about 5-10 years. That’s when visible signs of breast cancer can be felt due to pain or liquid discharge from the breasts. With further reading I found that the risk of breast cancer can be assessed even before the first cancerous cell starts the tumour formation. As the science says, “it’s all in the GENES”.

    We are all born with a certain degree of susceptibility to breast cancer and other diseases. Our genetics, family health history, lifestyle, environmental exposure and few other aspects play an important role in building up a risk profile. It’s important to get an assessment that identifies your risk profile and not wait for signs or symptoms to show-up. Cancer survivors and their families can benefit immensely as they can understand possibilities of recurrence of cancer and risk profile of their family members.

    For the majority of women and men genetics or genetic testing can be a very new subject. It’s not like making a decision to purchase a new mobile phone, for which everyone will have some suggestions to give you. Genetics is best understood and explained by experts, it can be a complex topic. Based on this I suggested to Krusha that apart from visiting her Doctor, she should also talk to a Genetic Counsellor. With further research online I discovered that truGeny provides genetic counselling. I would like to encourage all women reading this blog, that they and their family members should opt for a genetic counselling session. This will help you understand and plan for breast cancer prevention or even for better management of the disease. The genetic counsellors will help you understand the science of genetics and what the test results may mean for you and your family. Let’s pledge for a proactive approach to health. As new-age women and women of today we have the means, now all we need to do is take charge of our own health and nothing should stop us from doing so.

    genetic counseling for breast cancer, breast cancer, genetic counseling for cancer, trugeny

    Should Clinicians Recommend Genetic Testing to Family Members of Patients with Breast Cancer History?

    For clinicians who care for patients with breast cancer, the possibility of a cancer diagnosis being related to a hereditary predisposition is always a consideration. The potential benefit for identifying a hereditary breast cancer extends beyond the patient to other family members and the risk may not be only for the development of breast cancers, but for other cancers as well. Once a mutation is identified in the patient, each first-degree relative has a 50% risk of carrying the mutation and ideally, it’s crucial that these family members consider genetic testing.
    According to a study 1 performed on over 1000 Indian population with breast and ovarian cancer detected mutations in 304 cases (30.1%) with the majority of the mutations were detected in BRCA 1 and BRCA 2 genes (84.9%) compared with non-BRCA genes (15.1%). The study also reported that the high rate of detection of hereditary variants (75%) was observed in patients whose age at diagnosis was below 40 years and had a first degree family member affected by breast or ovarian cancer.
    A 2018 lancet study reported that India continues to have a low survival rate for breast cancer – 66 percent 2. And a 2018 Globocan study reported the death rate due to breast cancer in India at 87,090 3. With alarming rates of breast cancer incidence and death rate, the need of the hour is early detection and diagnosis.

    genetic testing for family members, genetic testing for breast cancer, genetic testing for breast cancer in india, breast cancer, truGeny

    GENETIC TESTING – A SOLUTION FOR CHANGE

    • Limited awareness by the public, complexity of the current structure, restricted genetic counseling services, and current testing pathways have facilitated restricted access and massive under use of genetic testing services 4,6.
    • In fact, the use and importance of genetic testing is growing in the breast cancer space, especially as more targeted and personalized therapies are moving through the pipeline and into the clinic.
    • Genetic testing for cancer genes with expanded panels can cover around 100 genes. It can identify other organs that may be at risk for cancer, such as pancreatic cancer or melanoma. It can also pinpoint others in a family who may harbor mutations.
    • A major advantage of genetic testing is enabling testing in the relatives of breast cancer mutation carriers, to identify unaffected relatives carrying mutations who can benefit from early diagnosis and cancer prevention.
    genetic testing for family members, genetic testing for breast cancer, genetic testing for breast cancer in india, breast cancer, truGeny

    For example, a recent study performed on 11,836 patients in population-based breast cancer cohorts from US and UK 7 revealed that multigene testing for all patients with breast cancer remained extremely cost-effective compared with testing based on family history or clinical criteria as recommended by US and UK genetic testing guidelines. This study also suggested that one year’s multigene testing on all patient’s with breast cancer could prevent 2101 cases of Breast Cancer and Ovarian cancer and 633 deaths in the United Kingdom and 9733 cases of Breast Cancer and Ovarian cancer and 2406 deaths in the United States. Considering the study results 7, in India, known for its high prevalence, lack of awareness and poor surveillance, multigene testing plays an important role to prevent high incidence and mortality rates. Hence wholesale adoption of multigene panel testing in all women diagnosed with breast cancer may help identify many more patients harboring pathogenic variants, which is important for the patients and their families. While genetic testing improves accuracy of understanding occurrence and recurrence risk, genetic counselling allows individuals to consider the various medical uncertainties, diagnosis, or medical management options based on varied test results; and the risks, benefits, and limitations of genetic testing.

    GENETIC COUNSELLING – ITS ROLE OF IMPORTANCE

    The growing complexity of genetic testing options, including testing for panels of genes for which less information is available, make pre-test and post-test counselling important components of the process. Genetic counsellors are healthcare providers who are trained in genetics and the psychological effects of learning about inherited risk. Their skills include assessing the patient’s and their family history very thoroughly. They make an estimate of which genes are relevant to test by drawing a family tree, a pedigree, with all the cancers and other diseases in the family. They will explain to the patient the pros and cons of genetic testing and its current limitations.

    genetic testing for family members, genetic testing for breast cancer, genetic testing for breast cancer in india, breast cancer, truGeny

    Genetic counsellors also help patient’s to inform their family members and reach out to relatives, and guide them through appropriate testing. Genetic counsellors not only offer support and guidance to patients and families, but also become a bridge between the patient and the doctor. At truGeny, our certified genetic counsellors will help translate genetic information into clinical practice while navigating the psychological, ethical and legal pitfalls. To ensure access to quality genetic services for all individuals, truGeny offers genetic counselling services via tele-genetic sessions with a vision to improve patient’s access to health care in areas with geographical barriers, reducing the cost burden and saving time.

    References

    1. Singh, J., Thota, N., Singh, S., Padhi, S., Mohan, P., Deshwal, S. & Ahmed, R. (2018). Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations.
      Breast cancer research and treatment, 170(1), 189-196.
    2. Allemani, C., Matsuda, T., Di Carlo, V., Harewood, R., Matz, M., Nikšić, M., … & Ogunbiyi, O. J. (2018). Global surveillance of trends in cancer survival 2000–14 (CONCORD-3): analysis of individual records for 37 513 025 patients
      diagnosed with one of 18 cancers from 322 population-based registries in 71 countries. The Lancet, 391(10125), 1023-1075.
    3. Bray, F., Ferlay, J., Soerjomataram, I., Siegel, R. L., Torre, L. A., & Jemal, A. (2018). Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA: a cancer journal for clinicians, 68(6), 394-424.
    4. Childers CP, Childers KK, Maggard Gibbons M, Macinko J. National estimates of genetic testing in women with a history of breast or ovarian cancer. J Clin Oncol. 2017;35(34):3800-3806. doi:10.1200/ JCO.2017.73.6314
    5. Manchanda R, Blyuss O, Gaba F, et al. Current detection rates and time to detection of all identifiable BRCA carriers in the Greater London population.J Med Genet. 2018;55(8):538-545. doi:10.1136/jmedgenet-2017-105195
    6. Hughes KS. Genetic testing: what problem are we trying to solve? J Clin Oncol. 2017;35(34):3789- 3791. doi:10.1200/JCO.2017.74.7899
    7. Sun, L., Brentnall, A., Patel, S., Buist, D. S., Bowles, E. J., Evans, D. G. R. & Duffy, S. (2019). A Cost-effectiveness Analysis of Multigene Testing for All Patients with Breast Cancer. JAMA oncology.