Dr. Salha Bujassoum, Senior Consultant, Hematology and Oncology, and Director of the Hereditary and High-Risk Screening Program at Hamad Medical Corporation (HMC), has announced that in 2017, 800 individuals (male and female) were referred to the Hereditary Cancer and High-Risk Screening Clinic for evaluation associated with their risk of hereditary cancer. Since the establishment of the Clinic in 2013, 2029 patients have benefited from genetic assessments, resulting in decreased cancer risk, early detection, and targeted treatment.
The genetic counseling and testing service, which is part of the Hereditary and High-Risk Screening Clinic at the National Center for Cancer Care and Research (NCCCR), provides a comprehensive genetic risk assessment for patients who are concerned about their hereditary cancer risk because of a personal and/or family history. The multidisciplinary clinic aims to identify patients at high risk of developing cancer due to young-onset diagnosis, a strong family history, or a positive genetic test result. Staff at the clinic provide targeted therapies, including prophylactic surgery (surgery as a preventive measure) and chemoprevention (use of medication to lower the risk or prevent cancer), and work with patients to incorporate prevention strategies into their life that can help reduce their cancer risk.
According to Dr. Bujassoum, who is also Program Director of the Medical Oncology Fellowship training program at NCCCR, while cancer is a common disease, some individuals are at greater risk of developing it due to inherited gene faults (mutations). She says inherited gene faults are responsible for around five to ten percent of all cancers.
“Greater awareness of the role genetics can play in causing certain cancers, as well as increased knowledge of the screening tools available at HMC, has led to more patients requesting genetic counseling and testing,” said Dr. Bujassoum.
Genetic testing examines a patient’s DNA for gene faults (mutations). According to Dr. Bujassoum, genetic testing for cancer is typically recommended for individuals who are diagnosed with the disease at a very young age and for individuals who have a strong family history of cancer, such as individuals who have multiple cases of cancer in their family. Currently, genetic testing is available to screen for gene faults that increase an individual’s risk of breast, bowel, ovarian, womb, and prostate cancers. Dr. Bujassoum notes that these tests can only be ordered by a board-certified genetic counselor.
“Part of our job involves helping patients make appropriate and informed choices to reduce their risk of developing cancer, or in the case of patients who are in the early stages of the disease’s progression, to reduce the risk of a recurrence, or to help control the disease in the case of advanced progression,” added Dr. Bujassoum.
Dr. Reem Jawad Al Sulaiman, an American Board Certified Genetic Counselor at NCCCR, said the genetic counseling and testing service uses a multidisciplinary and collaborative approach. A team of specialists work together to help patients understand their cancer risk as part of a comprehensive cancer risk assessment.
“We are a multidisciplinary team with extensive experience in genetic counseling and expertise in a variety of specialties. Our team includes a board-certified genetic counselor, a medical oncologist with extensive experience identifying hereditary cancers, and physicians and surgeons from various subspecialties, including gynecology, gastroenterology, dermatology, endocrinology, and surgery. Our goal is to help patients make the best decisions for their health, and the health of their family, based on their cancer risk. Our role often extends beyond the individual patient and this is especially true in the case of patients who are found to have gene mutations or to be carriers of mutated genes; having a gene mutation or being a carrier of mutated genes means there is a 50 percent increased cancer risk,” said Dr. Al Sulaiman.
If an individual has a strong family history of cancer and the genetic counselor deems the individual to be at high risk of having a gene mutation, the counselor will talk to the patient about the process of genetic testing, including the pros and cons of testing and the possible implications for the patient’s health, and the health of their family. Genetic counselors play an important role in helping patients understand what they can do to reduce their risk of developing cancer, including making lifestyle changes, having regular cancer screenings, taking medications that have been shown to lower the risk of developing certain cancers, and considering specific risk-reducing surgeries.
“For some individuals, the knowledge that they have a particular gene fault that has been linked to cancer can help to reduce the stress and anxiety caused by not knowing. Understanding and dealing with a strong family history of cancer can be challenging. A genetic counselor can help patients, and their families, by providing information, resources, and support that can help guide informed decisions about genetic testing and risk-reducing strategies,” said Dr. Al Sulaiman.
As an example, she cited a case involving a patient found to have early-stage breast cancer and a specific gene mutation, such as the BRCA gene, which is associated with a higher risk of developing breast and ovarian cancers. In this case, a mastectomy of the affected breast and a prophylactic risk-reducing surgery of the unaffected breast, as well as the prophylactic removal of both ovaries are normally recommended to reduce the patient’s risk of developing cancer in the unaffected breast and ovaries. However, she added that patients are assessed on an individual basis and risk-reducing surgery may not always be possible, especially in the case of younger women who often express concerns related to fertility and body image. In these cases, extensive follow-up care and examinations are recommended.
Dr. Bujassoum added that genetic counseling also plays an important role for patients who have been diagnosed with advanced stage cancer. In these cases, specific information about the genetic mutation can help guide treatment. She cited the example of a medication recently approved for clinical use that targets the BRCA gene in breast and ovarian cancer patients, as well as a targeted therapy approved for colon and endometrial (uterine) cancers that is available for patients who have Lynch syndrome, a genetic condition that is associated with a higher risk of developing certain cancers.
