Recent Advances in Genetic Testing and Clinical Management of Hereditary Breast and Ovarian Cancer (HBOC) in India

Hereditary breast and ovarian cancer (HBOC) syndromes, responsible for 5%-10% of all breast and ovarian cancers in the general population, are largely associated with pathogenic variants of the BRCA1 and BRCA2 genes. Yet, the role of other cancer susceptibility genes highlights the genetic etiology of HBOC as complex, thus requiring thorough investigation beyond these main mutations, highlighting a need for a comprehensive genetic assessment in disease management strategies.

In India, advances in genetic research and clinical management have significantly impacted the knowledge of HBOC. A definitive prevalence of BRCA1/2 mutations among Indian populations has catalyzed the adoption of genetic counseling for precision diagnosis and treatment strategies in recent times, with collateral support extended from communities among oncologists, geneticists, and reproductive medicine specialists. The integration of next-generation sequencing and multiplex gene panels creates a platform for identifying high-risk subjects, leading to individualized care pathways and enhanced disease management plans. These programs have increased access to essential services such as genetic counseling, multidisciplinary management, and fertility preservation to provide holistic care to HBOC patients.

Future efforts should explore further the genetic heterogeneity of HBOC in Indian populations. There needs to be wider access to genetic testing and counseling services, and the implementation of strong, ethical policy guidelines for equitable use of genetic information. Through the creation of innovative, collaborative methods, these measures have tremendous potential to improve patient care, early detection, and outcomes for individuals affected by HBOC in India.