Establishing Genetic Counseling and Genetic Testing for Familial and Hereditary Breast Cancers at a Tertiary Referral Center in India

Breast cancer remains the most prevalent cancer in women both in India and around the world. GLOBOCAN 2018 report suggests 14% of all new malignancies were breast cancers with a 5 year prevalence of around 400,000 cases. Women from low and middle income countries have been shown to have higher incidence of breast cancer and recent studies report a significant increase in morbidity and mortality related to cancers in India. It remains an unmet need in India to develop a multidisciplinary team for cancer treatment including genetic counseling and genetic diagnosis for successful management along with targeted therapies. The Kasturba Medical College and Hospital – Manipal, Manipal Academy of Higher Education, Manipal, India is a tertiary referral hospital with a dedicated cancer service called Manipal Comprehensive Cancer Care Center. There is a steady recruitment of breast cancer patients getting standard of care treatment. Though we have tumor boards in the hospital to ensure integration of various oncology departments to discuss each case on an individual basis and design a treatment plan, there is no genetic counseling and testing for identifying hereditary breast cancer patients. Our aim is to (1) Establish a dedicated biobank for cancer samples: A dedicated biobank for storage of blood and tumor biopsies is ideal for both germline and somatic mutation analysis. We will also collect blood samples collected after every milestone and follow up of the patient which will help develop research projects to identify and test biomarkers for early detection and monitor treatment by liquid biopsy approaches. (2) Integrate a robust genetic counseling component and genetic testing for breast cancer patients which would aid in screening, management and treatment of familial and hereditary breast cancer patients. (3) We plan to develop a novel library preparation strategy for capturing long genomics regions of target genes in breast cancer to be sequenced on the Oxford Nanopore NGS platform. We plan to recruit up to 100 breast cancer patients in 2 years with clinical parameters and history suggesting a familial origin according to NCCN guidelines. We will introduce genetic counseling for the patient and families along with genetic testing for mutations in BRCA1 and BRCA2. A later plan is to expand the panel to additional DNA repair genes involved in the pathophysiology of breast cancer using a next generation sequencing (NGS) panel on Nanopore sequencing technology. My previous training in genomics and liquid biopsy approaches for early cancer detection makes me an ideal candidate to be a lead investigator on the grant. Our ultimate goal is to not only help streamline treatment options but also allow for establishing necessary infrastructure and management plans for building capacity in conducting clinical trials.