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.


  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 (accessed 30 July 2014)