In recent years there's an increased awareness regarding the hereditary factor in malignancies of the digestive system. The scientific advances made in this subject enable us to identify more and more of these cases. The genetic diagnosis in these cases will have significant ramifications on the patient's treatment and on the tests their family members should undergo to prevent the appearance of tumors.
In addition, with the increase in awareness, more patients come to the clinic without a family history of tumors but because of multiple polyps discovered in colonoscopy examinations. In such cases, we offer the patient and their family members counseling about the best genetic exploration and construct a personally tailored follow-up plan to prevent the appearance of tumors in the future.
Sometimes the diagnosis is purely clinical, i.e. based on a family history of many sick relatives. However, there are genetic methods available today that identify specific genetic changes and therefore help diagnose the specific syndrome. So long as the specific genetic change is known, the entire family can be tested for it and based on the results we can identify the family members that are at risk and should be under regular medical monitoring.
The Gastro-Genetic Clinic is a collaboration of the Gastro Institute and the Medical Genetics Institute at SZMC. The patients meet during their sessions a senior gastroenterologist and a genetic counselor and receive a combined counseling. Thus the patient is spared the need to see two specialists in two separate clinics and waste time and effort.
Many patients are referred to the clinic for diverse reasons: multiple polyps, a personal history of tumors in the digestive system or a family history of such tumors. It's important to note that there is a connection between tumors in the digestive system and tumors in other organs, that on the face of it appear to be unconnected, such as uterine cancer. This is why genetic counseling is so important.
Please consult your GP or primary physician about the need for a gastro-genetic consultation. You can also ask directly at the Digestive Diseases Institute or at the Medical Genetics Institute.
When coming to the clinic, please bring with you all relevant medical information - documentation about other cancer occurrences in the family, pathological reports and results of previous genetic test, if such were done.
At the beginning of the visit the patient's medical history is reviewed and a family tree detailing the different instances of cancer in the family is built (sometimes the patient presents the very first occurrence). After that the experts discuss the case with the patient, receive further medical information and give recommendations regarding genetic testing, follow-up and monitoring and answer any questions the patient may have.
The testing recommendations can be divided to several groups. Some patients don't have anything in their personal and family history that merits further examination. In these cases the clinic helps calm the patient and their family members and saves them unnecessary invasive tests. In other cases further testing is required. These can include an endoscopy of the digestive tract, imaging such as CT or other tests such as a breast examination or a gynecological check. And of course genetic test, usually done on a blood sample but sometimes a tissue sample is used from a biopsy or previous operations of the patient or a family member.
Dr. Sari Lieberman, genetic counselor
Dr. Michal Barzilai, genetic counselor
Dr. Menachem Schechter, gastroenterologist
Ms. Yifat Landau, a coordinating nurse,
Digestive Diseases Institute
Medical Genetics Institute
Main Building, 4th Floor, Digestive Diseases Institute