The Risk Reduction Clinic at Orchids Breast Health is a multi-disciplinary program designed to identify, counsel and manage women at high risk for hereditary breast and ovarian cancer (HBOC). Current research has identified important genetic and lifestyle-associated risk factors for HBOC. Identifying individuals with these risk factors and implementing closer surveillance and risk reduction techniques may detect these cancers earlier, thereby leading to betterand outcomes.
Orchids Breast Health is one of the very few clinics in India which has established a streamlined protocol for genetics-guided surgical management of HBOC in high-risk patients.
“Hereditary Breast and Ovarian Cancer Syndrome" (also known as HBOC) is most commonly caused by mutations in one of two genes: BRCA1 and BRCA2. These mutations increase the risk for breast, ovarian, pancreatic, prostate, melanoma and possibly other cancers. A very important phenomenon called mutation (i.e., change in nucleotides in DNA) affects the genetic material within the cell. The mutations could either be spontaneous, induced by radiation/carcinogens or inherited in nature. Genetic testing involves identification of mutations in disease causing genes to determine their biological significance in normal physiology and disease etiology. Unlike most other medical tests, genetic tests can reveal information not only about the person being tested but also about that person’s relatives.
The incidence of breast cancer (BC) is on the rise in Indian women. It is estimated that the current life-time risk for developing BC in urban Indian women is 1 in 22. Half of the women with a diagnosis of BC are under the age of 50, which is a decade earlier than that seen in the west. India has the highest BC incidence-to-mortality rate in the world mainly attributed to late-stage presentation and hence, poor treatment outcomes. It is plausible that about 10-15% newly diagnosed BC cases in India have a strong familial history or inheritance patterns. The oncology community in major cities is now actively integrating preventive genetic screening in their routine practice.
World-over, the general public is now well-sensitized to genetic risk of HBOC, consensus medical guidelines for genetic testing are in practice
majority medical centers are offering genetic services and several genomics companies are providing technology solutions for affordable genetic sequencing. More and more educated women with family history of HBOC are aware about this topic and willingly coming forward to identify their risk of developing these cancers.
Even though several global and Indian genomics companies offer such genetic tests, the cost of the test remains a barrier. Genetics of HBOC is also an ever-evolving and important area of cancer research. In addition to the BRCA genes, several other genes have been identified to contribute towards the development of these cancers. Therefore, genetic testing panels inclusive of multiple disease-causing genes are now being recommended in assessment of HBOC risk. Importantly, given the paucity of well-trained breast oncoplasty and reconstruction surgeons in India, this type of surgery has not yet found its way in mainstream breast cancer management protocols in India. On the flipside, these advances have resulted in a steady increase in the rate of unwarranted prophylactic double mastectomies in the west.
Orchids has recently established a “HBOC Risk Reduction Clinic”. This preventive oncology clinic is based on the principles of multi-modal risk assessment of HBOC using family history, radiological imaging and genetic screening for HBOC. On advice of treating onco-clinicians, the patients are referred to well-trained genetic counselors who evaluate the need and type of genetic testing applicable. Genetic reports from DNA collected from blood or saliva samples, is then discussed with the patients and they are given appropriate advice for follow-up actions. The patient with high risk of HBOC is monitored through active surveillance that involves regular follow-up, timely radiological assessment and lifestyle changes for effective prevention and management. Orchids is perhaps the only cancer centers in India with a fully-functional breast oncoplasty surgery unit led by Dr. C.B. Koppiker. More than 3/4th newly diagnosed BC patients at this center undergo breast conversation surgery using oncoplasty or reconstruction techniques. Over the last 2 years, more than 15 women with strong family history have undergone prophylactic mastectomy and breast reconstruction at Orchids. However, every case is unique and it is essential to objectively qualify patients who need preventive surgical measures to mitigate their risk of developing cancers.
Dr. Koppiker’s quote:
“With the declining cost of genetic testing, preventive genetic testing for HBOC is expected to become integral to management of these cancers in India in near future. Cancer centers will have to take pro-active steps to sensitize patients about genetic screening with the help of genetic counselors, constantly train the onco-clinicians, establish partnerships with well-accredited genomic companies and offer appropriate and ethical advice for preventive surgical interventions for HBOC management. Cancer risk reduction has to involve objective strategies for risk assessment and risk mitigation. In this regard, there is a prescient need to train established breast surgeons in India in genetics as well as advanced techniques of breast oncoplastic surgeries. Accordingly, the recently established the Risk Reduction Clinic at Orchids may serve as a model for other cancer centers to replicate.”
Ashok Gholap, 66, is a patient of OBHC who has been valiantly fighting breast cancer, pancreatic cancer, and recurrence of the disease in the lungs and abdomen since 2010. He is detected as a carrier of the disease causing BRCA 2 gene mutation which appears to show strong hereditary patterns. Mr. Gholap’s younger sister and her daughter were also detected with breast cancer at OBHC. After detailed genetic counseling, Mr. Gholap was convinced about the need to cancer risk assessment in his extended family. On November 13, he organized a get-to-gether at his Pune residence in which as many as 25 members of the Gholap family gathered to undergo a genetic test to identify if any of them were at the risk of HBOC. Given the rarity of Male Breast Cancers, genetic research scientist at OBHC and Strand Life Sciences-India’s leading genomics company- have embarked on a research study to understand the nature of HBOC hereditary patterns in the Gholap family.
Ashok Gholap (in pink shirt) got his entire family together, from different parts of the state, to undergo a Germ Line Cancer Test. (Indian Express Photo/Sandip Daundkar)