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