Samarpan Hospital | Risk Reduction Clinic

RISK REDUCTION CLINIC

The Risk Reduction Clinic 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 better prognosis and outcomes.

On advice of the clinicians, interested females above age 21 years receive an in-depth pre-genetic test counselling involving collection of personal and family health history by our genetics counsellor.
Thereafter, DNA isolated from blood or saliva samples, collected from these individuals, is sequenced for identifying mutations in genes involved in HBOC.
Post-test counselling of the patients by clinicians involves discussions on the implications of the genetic testing report and actions to be taken, thereof.
Risk assessment involves a combination of genetic test reports, imaging parameters and lifestyle assessment.
Identified high-risk patients are referred to the clinicians at the Risk Reduction Clinic who will advise appropriate actions based on the specific details of the case.
On a case-to-case basis, these actions may involve prophylactic mastectomy with breast reconstruction or prophylactic oophorectomy, lifestyle and diet modifications or increase in disease surveillance as per globally accepted medical guidelines.

GENETIC CLINIC

“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.