Breast Cancer, the role of genetic tests as a preventative measure

Breast cancer is one of the worst ways cancer can affect someone. It is one of the most common forms of cancers in India as per a survey done by GLOBOCAN. Now here’s an interesting fact. Did you know that around 5-10% of breast cancers are hereditary in nature? That means it is passed on through generations from parent to child. You might wonder then why only certain people encounter breast cancer in their lives, but not the entire generation is affected. That’s the complexity of genes and how they work. Markers that cause cancer to happen can be triggered due to changes in lifestyle, habits, medications and many other factors. While a lot of factors are known nowadays, there are still many causes that are yet to be identified. Here it becomes crucial to understand that one has to toe this fine line very carefully between what’s safe and what’s not.

Keeping all this in consideration, what are the preventative measures that can be taken against breast cancer? Regular self-examinations done in front of a mirror are always great, especially 2-3 days after periods. Checking for changes in the skin tone around the breast and armpit area and for any deformity in the nipples’ shape along with any kind of fluid leaks are the key things to keep in mind. There are a few steps to follow in order to conduct a good physical self-exam. Please refer to the attached image for the same.

Additionally, staying away from alcohol and smoking is a great way to stay safe from triggering any cancer-related markers inadvertently through lifestyle choices. When it comes to physical activity, doing a bit of exercise daily helps in being fit and boosting the immune system. If you are a new mother, it is important to note that breastfeeding is one of the best ways to help prevent the onset of breast cancer. These are all ways in which you can do your bit in staying protected. But disaster doesn’t often come announced. So, what else is an option for you?

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Mammograms are good, but they can only let you know if a tumour has already started developing. There is a way to be proactive even before that. That is through telegenetics. Remember how cancers can be hereditary? If someone among your predecessors ever had a run in with cancer, it is likely that you would be carrying the same marker in your genes. Telegenetics involves a three part process – the initial genetic health consultation, the genetic test and then the explanation of the results and further advice.

In the first part of the process, a genetic counsellor will interact with you to understand your family and your health history. Based on that, you will be advised whether to go for a genetic test or not. Then comes the actual test. This is the simplest part of the process by far. You will be mailed a test kit containing the equipment that will help you provide a sample of your saliva. You can then mail the kit back to the laboratory. After a couple of days, when the test results arrive, your genetic counsellor will start the last part of the process. This includes discussing the test results and letting you know what you should be concerned about and the possible ways in which you can be prepared for any eventuality of breast cancer.

Telegenetics is a better option than just physical checkup because it can be done at almost any age and can let you know if there are any possible risks. Genes do not change with age, so a test done once is good for life. You don’t have to go anywhere to get the test done or to have the counselling and consulting sessions. Counselling and consulting is done via calls or online. Being aware of your genes is a better prerogative than being concerned of any future eventuality without any preparedness. Contact truGeny here to know more.

Your Genes Matter. Take Charge.

Breast Cancer. Early detection is the WAY

There is a raising incidence of breast cancer in women in India and an urgent need to identify at risk individuals for reducing the disease burden. Researchers conducted a National Survey of Precision Medicine in Cancer Treatment (1) primarily due to the fact that there is increased accessibility, affordability and reliability of DNA and RNA high-throughput sequencing platforms (Next Generation Sequencing – NGS) along with bioinformatics capabilities. This technology enables oncologists to provide more personalized care referred as precision oncology. There is a lot of research and acceleration in developing tumor gene sequencing panels resulting more challenging time for oncologists to effectively incorporate them into their routine patient care. The survey found that 75.6% of oncologists use NGS based genome testing to guide treatment decisions and 34% use to guide treatment for patients with advanced refractory disease. Also 29.1% doctors used to identify patients for clinical trials, thus suggesting wide usage of NGS platform.

Pathogenic mutations in breast cancer susceptibility genes BRCA1 and BRCA2 are associated with increased risks for breast, ovarian and fallopian tube and peritoneal cancers in women. These mutations cluster in families, exhibit an autosomal dominant pattern of transmission either in maternal or paternal lineage. Identifying at-risk women has several challenges in India unlike in several developed countries where high risk individuals undergo genetic counseling (GC) prior to genetic testing. GC plays an important role in selecting suitable individuals for genetic testing by accurately constructing their family pedigree along with relevant medical histories. This has not being done in mainstream clinical practices in India. GC is known to be associated with improved adherence to cancer risk management, lower patient distress along with better informed surgical decision, high patient satisfaction and cost savings (2). In India, GC is provided by oncologists who are already very busy with number of patients and there is an urgent need to integrate expert GC by trained counselors to enable and empower patients to choose the required type of testing for their families. 

The socio-geographical complexities in India are difficult for GC to penetrate as India is a multilingual country. Majority of patients prefer to converse in their native language and face-face traditional counseling model. However with large scale usage of mobile phones and internet services, telephone, video or Skype technologies can enable better reach to patients. Virtual consultation models with different languages can help as GC is still a growing field in India. Pre- and post- genetic testing tele-genetic counseling was shown to increase genetic testing uptake by more than 65% in patients with breast cancer (3). Integration of remote counseling model by clinicians into their practice can enhance their reach out to patients and improve healthcare outcomes. This seems to be best approach for tackling steady increase in cancer cases, meet the local needs, reduce costs, improve early detection, surveillance and disease management.


  1. Armstrong J et al. JAMA Oncol 2015;1:1251-60
  2. Sarin R. J Cancer Res Ther 2006;2:157-8
  3. Nilsson MP et al. Breast Cancer Res Treat 2018;168:117-26

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.

    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.


    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
    5. GeneTests. GeneTestsReviews. Available at (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.

    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.

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    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


    • 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.


    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.


    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.