What will genetic counselling and genetic testing tell me?

Your quest for healthy living and a happy family arises from a desire to have a predictable and safe future for you and your family. If you have a close family member such as a parent or a grandparent with a health problem, you might want to know if you are at a risk for the disease. Similarly, if you are planning for a child, you may want to know if you or your partner could pass on a disease to your future child. 1 , posing a major threat to public health. Over one million new cancer cases are diagnosed every year, and the number is expected to rise 5-fold by 2025 2 . In fact, today, India ranks third in the world with regard to incidence of cancers.

genetic counselling, genetic testing, genetic counsellor

The issue at hand may be a condition that has affected one or more of your family members and some of these conditions are often referred to as running in the family. Doctors call these “genetic” or “hereditary” health conditions.

Genetic counselling is not as complex as it sounds. It’s a simple conversation with a certified and highly trained genetic counsellor, where you can ask questions, get answers and address concerns about yours as well as your family’s health risk.

Genetic counselling is a process during which, information about the genetic aspects of a disorder and the risks of inheritance or passing on a disorder is discussed by a certified genetic counsellor. The counselling session is meant to provide guidance to those who are at an increased risk of inheriting a disease or of passing on a disorder to their children.

The genetic counsellor will provide you with information on the risk factors of you inheriting a disorder or of their recurrence. The counsellor will address the concerns of not only yours but also your family’s and also help consult with your Doctor. Additionally and more importantly, genetic counsellors also help you deal with the emotional aspects about how a genetic condition can affect a family.

There could be many reasons for an individual to seek genetic counselling. They may have a disorder themselves, or it could be a couple planning their first pregnancy and want to know their risk of passing on a disorder to their child. It could even be couples planning a pregnancy late in life or couples with an affected child and are planning for another pregnancy. Genetic counselling is useful for people at all stages of life, right from a baby being screened to teenagers being tested for Thalassemia or even assessing the predisposition risk of adults entering their mid-life so that they can make necessary lifestyle changes.

Genetic counsellors are trained to support you, so that you can ask them questions, such as:

  • Am I or my loved one going to be affected with a healthcare issue?
  • Or are my children going to be affected?
  • What can be done to treat it?
  • How does it affect while I age or what about my emotional well-being?

The answers to the questions you ask are provided during the counselling session. Once you learn about your health status, you can start taking proactive steps for ensuring a healthy future for yourself and for your family. If you are recommended to undergo a genetic test, counsellor will help you understand the test report, guide you and you can discuss it with your Doctor.

A little note about Genetic Testing: This is a type of medical testing that could involve you providing a sample of your saliva / blood or at times even tissue. The test identifies changes in chromosomes, genes or proteins. The test report will help either confirm or rule out a genetic condition. The reports also help determine an individual’s risk of developing or passing on a genetic disorder.

genetic counselling, genetic testing, genetic counsellor

The genetic counsellor will help you understand about the pros and cons of the test as well as discussing the emotional aspects of the testing. Genetic counsellor knows that it is important to have an understanding and support of your family. That’s the reason a genetic counsellor is available to counsel not only you but also counsel and help your family to understand better.

Genetic counsellors at truGeny believe that yours and your family’s health matters the most. The highly personalised service enables you to:

  • Know if you have a hereditary risk.
  • Stay ahead and help prevent or delay the onset of illness.
  • Understand your condition so you can manage better.
  • Be informed about your options so you can plan for your future family well.
  • Guide you through genetic testing.

If you too have a quest of life, we are always happy to listen and help.

Why is genetic counselling an unmet medical need?

Proper diagnosis of genetic disorders and cancers continue to remain an unmet medical need as the diagnostic process is challenging and at times patients are even misdiagnosed. With an estimated 1.15 million new cases in 2018, cancer incidence in India is predicted to almost double by 2040 as a result of demographic changes alone 1 . On the other hand, rare genetic diseases account for 35% of infant deaths in the first year of life 2 . As much as 80% of rare diseases are of genetic origin and often require genetic testing to properly diagnose them 3 . However, their needs are often neglected or overlooked by clinicians and the research community alike as these patients represents a negligible percentage of the overall patient population. As a result there is a gross underrepresentation of their diagnostic and therapeutic needs.

genetic counselling, genetic counselling in India, online genetic counselling

New genetic discoveries are creating newer opportunities in prevention, maintenance of health and management of heritable disorders. To fully realize the potential of these medical breakthroughs, strategies must be in place to disseminate accurate genetic information about the available resources for diagnosis, treatment and prevention of genetic disorders. genetic testing can play a pivotal role in implementing such preventive measures, by providing individuals a detailed understanding about the risk of genetic conditions including some of the most common chronic diseases and the use of the genetic information towards making life-determining choices.

Enabling a ‘proactive strategic’ decision-making pathway

According to a study conducted by the March of Dimes Birth Defect Foundation, 64.4 out of 1,000 birth defects suffer from genetic disorders in India. Currently, the diagnostic and rehabilitation facilities are scarce in India and focused in certain limited locations. The best defense against this growing burden is an early diagnosis in a proactive strategy i.e. prenatal screening before marriage or before conception that lets an individual and family know of their genetic implications. Notable improvements can be made in the lives of these individuals by diagnosing early and avoiding delays in care resulting in a greater probability of surviving, less expensive treatment and reduced morbidity. Genetic counselling would be a particularly important strategy, which helps in reducing misconceptions, addressing frustration and disappointment, and improving understanding and satisfaction.

genetic counselling, genetic counselling in India, online genetic counselling

Making the hard work a little easier for clinicians

With the growing incidences of cancers and rare genetic disorders, there is public curiosity and concerns about their own health. In addition, advancements in genomic technologies have also propelled the unprecedented growth of genetic testing companies. Direct offerings of genetic testing to the public through ‘Direct-To-Consumer’ model is expected to hit $2.5 billion by year 2024. With the constantly expanding panel of genetic tests, healthy individuals often receive genetic test results that indicate elevated disease risk. Such concerned recipients may turn to their clinicians for assistance, who typically are not geneticists to interpret test results that they did not order in the first place4. Moreover, a recent study has found that primary care providers have concerns about their ability to address DTC test results and a desire for clinical decision support to help in the interpretation of results5. In cases where genetic tests were ordered by the clinicians, the survey conducted on 488 doctors concluded that only 14% felt confident about interpreting the test results and the rest lacked the knowledge and skills to apply genetics in patient care6. In this current scenario, genetic counsellors can play an important role in variant interpretation and are also critical in helping patients and clinicians interpret genetic test results and incorporate them into patient care.

Unmet need in health care

As efforts continue to deliver personalized medicine, genetic counsellors can be vital to patients care. Genetic counsellors fill a niche that clinical geneticists or oncologists cannot compensate for, because of their good training of human genetic principles and their focused skills. Genetic counselling should preferably accompany clinical genetic testing to ensure that individuals undertake the right tests and get an accurate interpretation of test results. Incorrect interpretation could often mislead patients into making unfounded assumptions about their health risks.The New England Center for Investigative Reporting found that several women had inadvertently aborted healthy fetuses in 2014 after prenatal screening tests were misinterpreted without the assistance of a trained genetic counsellor. Hence, it is crucial to integrate genetic counselling into clinical practice across the different medical disciplines. Genetic counselling is considered as ‘non-directive’ science communication or ‘client-centered’ education which enables an iterative discussion about the impact and use of the genetic information. 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 online genetic counselling services via their tele-genetic s platform with a vision to improve patient’s access to health care in areas with geographical barriers, while reducing cost burden and saving time.

References

  1. Smith, R. D., &Mallath, M. K. (2019). History of the Growing Burden of Cancer in India: From Antiquity to the 21st Century. Journal of global oncology, 5, 1-15.
  2. Global Genes, Rare diseases: Facts and statistics
  3. Institute of Medicine. Rare diseases and orphan products: Accelerating research and development. Washington, DC: The National Academies Press. 2010
  4. Van Der Wouden, C. H., Carere, D. A., Maitland-Van Der Zee, A. H., Ruffin, M. T., Roberts, J. S., & Green, R. C. (2016). Consumer perceptions of interactions with primary care providers after direct-to-consumer personal genomic testing. Annals of internal medicine, 164(8), 513-522.
  5. Pet, D. B., Holm, I. A., Williams, J. L., Myers, M. F., Novak, L. L., Brothers, K. B., … & Clayton, E. W. (2019). Physicians’ perspectives on receiving unsolicited genomic results. Genetics in Medicine, 21(2), 311.
  6. Hauser, D., Obeng, A. O., Fei, K., Ramos, M. A., & Horowitz, C. R. (2018). Views of primary care providers on testing patients for genetic risks for common chronic diseases. Health Affairs, 37(5), 793-800.

Should clinicians recommend carrier screening to all couples planning for a family?

Rare genetic diseases affect more than 300 million people worldwide 1 . According to Genetic and Rare Diseases Information Centre (GARD), more than 7000 known rare diseases are recorded to date 2 . The sheer number of rare disorders means that, collectively, approximately 1 in 17 individuals are affected by them globally. So far, 450 rare disorders have been documented in India, and at least 80% of rare diseases have an identified genetic origin and disproportionately impact children 3 . Hence, with a population of around 1.37 billion and an annual fertility rate of 2.2 children per women, there is a high prevalence of genetic disorders in India.

genetic diseases, genetic diseases in India, cost of genetic diseases, genetic testing for diseases cost

As per the report from ministry of health, the incidence of genetic origin rare diseases is higher in India due to the practice of consanguineous marriages in many communities, which is directly linked to 56 million people suffering from single-gene disorders. Few studies reported the birth defect prevalence in India as 64.4 (per 1000 live births) 4 , and that 1 out of 20 children admitted to hospital has a genetic disorder that ultimately accounts for about 1 out of 10 childhood deaths 5 . In addition, a WHO report revealed congenital malformations and genetic disorders are the third most common cause of mortality in newborns in urban areas of India 6 . In spite of the high incidence of genetic disorders, the preventive steps in India are only in their infancy. The country also continues to struggle to provide adequate maternal care with only about a quarter of women in the country receive full antenatal care, and 90% receiving some kind of care.

Alternatively, there is no approved treatment for about 95% of rare genetic diseases and less than 1 in 10 patients receive disease-specific treatment. In cases, where treatment is available, it is estimated that the annual cost of treatment for some rare genetic diseases in India may vary from Rs. 20 lakhs to 1.7 crores for a child weighing 10kg. On the other hand, prevention with the help of several diagnostic tests costs around Rs. 10 – 40000 which is extremely cost-effective and simple. Thus, it is important that carrier screening and counselling ideally should be performed before pregnancy because it enables couples to learn about their reproductive risk and consider the most complete range of reproductive options.

Ingredients Used in Extenze where can i get male enhancement pills how long do male enhancement pills last Pills Male how long do male enhancement pills last Enhancement:Male Extra uses natural ingredients wanted coming from risk-free and also trustworthy options.That assures you what are the side effects of taking male enhancement pills? obtain what are the side effects of taking male enhancement pills? the top inside normal vitamins and what are the side effects of taking male enhancement pills? minerals where can i get male enhancement pills in which bring back what are the side effects of taking male enhancement pills? the sex well being. The where can i get male enhancement pills following is what are the side effects of taking male enhancement pills? an introduction to several ExtenZe components:Maca Extract,The extract from what are the side effects of taking male enhancement pills? Maca roots where can i get male enhancement pills boosts sex drive and increases sperm count and motility.Tribulus Extract,Tribulus extract is famous for where can i get male enhancement pills regulating blood pressure, what are the side effects of taking male enhancement pills? blood sugar levels, and cholesterol. The ingredients also boost energy levels, allowing how long do male enhancement pills last you to last longer in bed where can i get male enhancement pills and during workouts.Yohimbe how long do male enhancement pills last how long do male enhancement pills last Extract,Yohimbe extract how long do male enhancement pills last is the key ingredient in the where can i get male enhancement pills ExtenZe supplement. It helps to treat the symptoms of where can i get male enhancement pills erectile dysfunction by improving sex drive and promoting stronger and longer erections.Yohimbe where can i get male enhancement pills where can i get male enhancement pills blocks alpha-2 adrenergic receptors, which inhibits where can i get male enhancement pills erections. It also how long do male enhancement pills last helps to trigger nitric oxide, helping to boost blood flow in the penile what are the side effects of taking male enhancement pills? tissues.Boron,This mineral what are the side effects of taking male enhancement pills? is essential in reducing sex hormone-binding globulin, increasing the what are the side effects of taking male enhancement pills? production how long do male enhancement pills last where can i get male enhancement pills of testosterone. It probably won*t come as too much of a surprise when we tell you that these where can i get male enhancement pills are all falsified endorsements. We dug through how long do male enhancement pills last each how long do male enhancement pills last organization above and found absolutely nothing that showed EnhanceRX has been recognized how long do male enhancement pills last by these brands/outlets.Does where can i get male enhancement pills EnhanceRX Work?It is our opinion what are the side effects of taking male enhancement pills? that this product how long do male enhancement pills last will not what are the side effects of taking male enhancement pills? work as described by the manufacturers. Nothing inside this product*s formula how long do male enhancement pills last has the ability to treat or cure how long do male enhancement pills last erectile dysfunction in any shape or form 每 what are the side effects of taking male enhancement pills? the science simply say*s it*s impossible. There have been some how long do male enhancement pills last studies what are the side effects of taking male enhancement pills? showing that L-Arginine may where can i get male enhancement pills be effective for treating very what are the side effects of taking male enhancement pills? mild forms of ED, however test how long do male enhancement pills last subjects were issued a 5000mg serving of the amino-acid in these studies and even then it wasn*t conclusively shown to help consistently; what are the side effects of taking male enhancement pills? EnhanceRX only has a mere 400mg of L-Arginine by comparison, hence where can i get male enhancement pills our declaration that it*s an ineffective product for men with erectile issues.

Genetic counselling for optimizing outcomes

There is evidence that prevention programs such as genetic counselling and testing before planning baby or at least during the first trimester of pregnancy have been effective in reducing the number of morbidity and mortality rates due to genetic disorders. However, genetic testing’s appropriate usage and understanding the limitations and challenges of available testing approaches are crucial to the successful use of genetics in improving health and quality of life. Therefore, it is crucial that individuals receive timely genetic information about their pregnancy in an understandable fashion that is accurate, and reliable of clinical use.

genetic diseases, genetic diseases in India, cost of genetic diseases, genetic testing for diseases cost

Genetic counselling helps to identify families at possible risk of a genetic disorder, gather and analyze family history and inheritance patterns, provide information about genetic testing, and guide the couples with the opportunity to consider the most reproductive options. Genetic counsellors answer medical questions, provide education, resources, interpret and explain complex, incidental or uncertain genomic nformation and help people adapt and prepare for any risks or conditions. In addition, genetic counsellors are trained in psychological counselling, as well as genetics, so they can also help couples deal with the emotional side of how genetic conditions can affect a family and provide them with management options.

Integrating test results in clinical practice

Advances in genomic medicine and technological platforms have made possible for low cost, pan‐ethnic expanded genetic testing panels capable of assessing hundreds of mutations that enable obstetric care providers to offer screening for several recessive genetic diseases. It is estimated that the genetic basis of more than 1600 diseases have been identified so far while even more are being investigated. Expanded carrier screening through NGS involving molecular analyses is reported to yield high sensitivity and is considered as the strong predictor of genetic disease occurrence. Hence, given the high burden of the disease and carrier rate in India, population screening to identify mutation carriers with subsequent counselling for at-risk families is highly essential to decrease the disease burden.

genetic diseases, genetic diseases in India, cost of genetic diseases, genetic testing for diseases cost

As expanded carrier screening technology generate complex genetic data, genetic counsellors play a key role in enabling non-genetic health professionals to learn, understand and integrate genomic data into their practice.  They contribute genetic knowledge together with an expert understanding of how to communicate genetic information effectively.

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. Wakap, S. N., Lambert, D. M., Olry, A., Rodwell, C., Gueydan, C., Lanneau, V., … & Rath, A. (2019). Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. European Journal of Human Genetics, 1-9.
  2. GARD. FAQs About rare diseases: National center for advancing translational sciences. 2017
  3. Ministry of health and family welfare
  4. Christianson, A., Howson, C. P., & Modell, B. (2005). March of Dimes: global report on birth defects, the hidden toll of dying and disabled children. March of Dimes: global report on birth defects, the hidden toll of dying and disabled children.
  5. VBabu, R., & Ghosh, K. (2005). Chromosomal variants and genetic diseases. Indian Journal of Human Genetics, 11(2), 59-60.
  6. World Health Organization. (2004). Identifying Regional Priorities in the Area of Human Genetics in SEAR: report of an intercountry consultation, Bangkok, Thailand, 23-25 September 2003 (No. SEA-RES-121). WHO Regional Office for South-East Asia.

Steps in Genetic Testing and role of Genetic Counsellors

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

genetic counsellor, genetic counsellor india, genetic counsellor online, genetic counselors near me, role of genetic counsellors

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

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

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

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

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

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

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

Recent Blogs

Genetic Testing Helps Identify Inherited Heart Condition


Top 5 Genetic Birth Disorders – An Overview

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

    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.

    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.