How TruGeny is Helping Patients Take Action Against Hereditary Cancer

How many times have you come across someone who has had a history or is currently fighting cancer? How many times have you listened to their experience and found that quite a few of them were living a model life, free from tobacco, alcohol and the known culprits of modern-day addictions? Were you surprised? As per the National Cancer Institute, almost 5-10 percent of all cancers are due to inherited genetic mutations. This fact makes it all the more important for us to learn and understand the kind of impact genes have on our health. The news of one acquiring hereditary cancer can be quite devastating. One tends to feel very lonely and world-weary. Once diagnosed, cancer can be treated or managed through various methods including chemotherapy, surgery, medication, followed by a life riddled with precautions. The biggest challenge for the patient is the way cancer comes in and seems to drastically control your life and your decisions. Keeping this in view, wouldn’t it be a lot more beneficial if you could be more prepared for cancer, if it is to occur? That is where genetic counselling and genetic testing come in handy.”Hereditary Cancer”

Hereditary Cancer, hereditary cancer test,

Is genetic testing a way to lessen the chances of cancer occurrence? No, but it is a way to be prepared for an eventuality by making informed decisions.  By itself, does genetic testing help an average person? The results given by testing can be too complicated for someone to easily understand the risk and the factors affecting his/her health. Family history plays a very important role in the risk analysis for an individual. Therefore, genetic counselling should precede genetic testing. At truGeny, highly qualified and certified genetic counsellor will first discuss the individual’s and their family’s health history. Based on the deductions drawn from this initial consultation, they can then be advised for taking a genetic test. The process itself is very simple. All it takes is your spit, yes spit (Saliva). The best part is that you can get the test done without having to leave your home. The test kit is sent to the person’s preferred address. Once the test is done, the counsellors will walk the person through the detailed analysis of the results and advise on the next steps.

Now that you understand the benefits of genetic counselling, let’s try to learn about genetic testing. Genetic testing looks for certain inherited changes or variants in a person’s genes. These variants can have beneficial, harmful, neutral or uncertain effects considering the risk of developing cancer or other diseases. Sometimes cancer can appear to run in families, even if inherited genes are not the cause behind it. Let’s say most of the members in a family live or work in a shared environment that has an unusually high number of carcinogens. Habitual smokers staying in the same house, people working in conditions that expose them to asbestos, radon, certain pesticides or tobacco smoke can run a higher risk of developing cancer, even if their inherited genes are not to blame. In case cancer has occurred in family members who were not in such environments, it is typically advisable to opt for a genetic testing to understand the variants involved in the genes that could be causing cancer at certain ages.

Many genes involved in the known inherited cancer vulnerability syndromes have already been identified. Through testing, it can be confirmed if someone carries a harmful variant of such genes, even for those who have not been diagnosed with cancer. Sometimes a tumour DNA sequencing can also be carried out to check if existing cancer cells of people have genetic changes. This can help in charting out a better way of treatment for those who have been diagnosed with cancer. Over 50 hereditary cancer syndromes have been identified and genetic testing can help understand the progression and nature of these better, due to the available research. Some tests are also used to identify genetic variants that do not belong under named syndromes but are found to increase the risk for cancer occurrence.

Even if one has had a relatively healthy life and no instances of cancer in their family history, environmental factors, diet, chemicals etc. can possibly be a trigger for increasing the risk of cancer occurrence. While there’s no direct preventive measure available against cancer, the ability to learn about one’s risk can have a significant impact on the outcome. A detailed genetic counselling, and a genetic test can reveal information that would be useful in combating cancer early on. If already diagnosed with cancer, genetic counselling and tests can help determine the best treatment and management options, including medication  that suits a patient. truGeny and its board of experts offer genetic counselling and tests to help people be better equipped against hereditary cancer. To know more about truGeny, please visit or book an appointment through this link.

Paucity of cancer care in India & how tele-genetics can address the cancer epidemic

Cancer is transforming into an epidemic in India. The mortality rates have doubled from 1990 to 2016 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.

hereditary cancer test, hereditary cancer syndromes, hereditary cancer

Several factors such as shortage of infrastructure facilities, financial constraints, lack of adequate resources, faulty planning and a limited number of oncologists have affected the quality of treatment provided to cancer patients in the country . Official data from the ministry of health reports that the ratio of oncologists to cancer patients stands at 1:2,000 in India as compared to 1:100 in the United States. In addition, lack of awareness about the disease has also played a significant role with approximately 75-80% of patients being diagnosed with cancer only at a fairly advanced stage. All these factors impose an enormous burden on India’s healthcare system. This is further compounded by the realization that this country can afford to spend only 1.2% of its total GDP towards healthcare 3.

The spectrum of managing cancer in India is very different than in the West largely due to the lack of a well developed and unified health care system. With only around 62 dedicated cancer care centers to serve a huge population of 1.37 billion, it is not surprising that as many as 83% of cancer patients do not get adequate treatment and medical care. In addition, the out-of-pocket expenditure is three times higher for private inpatient cancer care thereby forcing nearly six crore Indians below the poverty line each year 4

While on one hand, the country is battling with issues like poor accessibility and affordability constraints, the quality of patient care also remains a major challenge. Many oncologists are unable to diagnose cancer early on, struggling to keep pace with the large volume of patient influx, medical records, and advancements in current research and clinical trials as well. Furthermore, due to their busy patient schedules, oncologists find it a challenge to allocate time and resources to stay up to date on the best practices in treatment and care management. Against this backdrop of growing needs, an important strategy is to progress towards more individualized and family-centered care, strengthened by a greater understanding of the utility and application of genetic and genomics for timely prevention and improved clinical outcomes.

Genetic counselling – Using genomic information to help reduce the growing cancer burden

As the field of hereditary cancer predisposition and cancer management continues to evolve, hundreds of genetic testing options are being made available in the healthcare market. In this generation of precision medicine, genetic counselling can be vital to ensure that the Doctors and their patients are kept abreast of the latest developments and treatment options.

hereditary cancer test, hereditary cancer syndromes, hereditary cancer

In contrast with the ever growing panel of genetic tests, oncologists are being increasingly challenged with the dilemma of whether a reported variant is an isolated somatic change or if it indeed represents a germline mutation and therefore heritable. In this context, the genetic counsellors are becoming an integral member of the oncology team, providing expertise in diagnosing hereditary cancer syndromes, in addressing the unique challenges associated with genetic evaluation, and in helping families utilize genomic information about cancer risk to plan screening and prevention strategies with the help of their Doctors. The counsellors are well trained in relieving anxiety and fear and to empower patients and their families by providing fact-based risk information and potential options for proactive risk reduction and/or early detection strategies whenever a pathogenic disease associated gene mutation is identified.

Most importantly, genetic counsellors are able to practice independently, away from the physician’s presence since a physical exam is not always necessary. As the primary concern in familial cancer is usually isolated to tumors/cancer, the genetic counsellor is able to perform an efficient and focused analysis of the medical and family history via telephone or video consultation. Furthermore, those individuals who undertake genetic testing to know their cancer susceptibility are largely unaffected and therefore may not otherwise be associated with any specialized tertiary medical centre with access to genetic services. Such individuals in particular, may benefit from a consolidated offering of genetic counselling and testing services.

Interpreting test results using the tele-genetics platform

As the cost of genetic sequencing continues to decline, cancer management may benefit from efforts to integrate genetic information in risk stratification, prevention, and treatment, thereby reducing the healthcare cost & resource burden. Besides, due to the increasing number of patients seeking interpretation of their genetic test results, cancer genetic counselling is meant to increase a family’s understanding of testing options, ensure that the most appropriate test is ordered, allow for informed decision making, and ensure that the families are prepared for the genetic test outcomes.

hereditary cancer test, hereditary cancer syndromes, hereditary cancer

However, genetic testing without genetic counselling has been linked to a variety of negative testing outcomes including lack of informed decision making around testing, ordering of costly and unnecessary genetic tests, misinterpretation of genetic test results, inappropriate or inadequate medical management, violations of ethical standards, and adverse psychosocial outcomes 5, 6, 7 highlighting the pivotal role of expert genetic counselling in cancer care. While time-sensitive traditional genetic counselling is comprehensive in nature, cancer genetic counsellors who follow this method do see fewer patients and have a longer waiting time as compared to those who employ innovative methods 8.

At truGeny, an innovative telegenetics services platform, our certified genetic counsellors help to translate genomic information into clinically meaningful interpretations that can be easily adapted and integrated into routine clinical practice, without compromising on the psychological and ethical issues, while avoiding legal pitfalls. To ensure access to quality genetic and genomic services, truGeny offers genetic counselling services via their proprietary telegenetics online portal with a vision to improve patient access to state-of-the-art health care and management in areas with geographical barriers, while reducing costs, saving time and providing their unique services at one’s own pace, choice of place and convenience.


  1. Dhillon, P. K., Mathur, P., Nandakumar, A., Fitzmaurice, C., Kumar, G. A., Mehrotra, R., … & Thakur, J. S. (2018). The burden of cancers and their variations across the states of India: the Global Burden of Disease Study 1990–2016. The Lancet Oncology, 19(10), 1289-1306.
  2. Mallath, M. K., Taylor, D. G., Badwe, R. A., Rath, G. K., Shanta, V., Pramesh, C. S., … & Kapoor, S. (2014). The growing burden of cancer in India: epidemiology and social context. The Lancet Oncology, 15(6), e205-e212.
  3. Bhardwaj, Geeta; Monga, Anuradha; Shende, Ketan; Kasat, Sachin; Rawat, Sachin (1 April 2014). "Healthcare At the Bottom of the Pyramid An Assessment of Mass Health Insurance Schemes in India". Journal of the Insurance Institute of India. 1 (4): 10–22.
  4. Rajpal, S., Kumar, A., & Joe, W. (2018). Economic burden of cancer in India: Evidence from cross-sectional nationally representative household survey, 2014. PloS one, 13(2), e0193320.
  5. Bensend, T. A., Veach, P. M., & Niendorf, K. B. (2014). What’s the harm? Genetic counselor perceptions of adverse effects of genetics service provision by non-genetics professionals. Journal of genetic counseling, 23(1), 48-63.
  6. Brierley, K. L., Blouch, E., Cogswell, W., Homer, J. P., Pencarinha, D., Stanislaw, C. L., & Matloff, E. T. (2012). Adverse events in cancer genetic testing: medical, ethical, legal, and financial implications. The Cancer Journal, 18(4), 303-309.
  7. Miller, C. E., Krautscheid, P., Baldwin, E. E., Tvrdik, T., Openshaw, A. S., Hart, K., & LaGrave, D. (2014). Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing. American Journal of Medical Genetics Part A, 164(5), 1094-1101.
  8. Trepanier, A. M., & Allain, D. C. (2014). Models of service delivery for cancer genetic risk assessment and counseling. Journal of Genetic Counseling, 23(2), 239-253.