Applications of Medical Genetics
The patient audience for cancer genetics consists of individuals whose first-degree family members or relatives have been diagnosed with specific types of cancer. Breast, ovarian, colonic, pancreatic, uterine, gastric cancers and some cancers of prostate and thyroid gland are among the notable types. Genetic risk of predisposition to cancer goes up quite a bit particularly in case of specific cancer types (ovarian, pancreatic, male breast cancer, pheochromocytoma, neuroendocrine tumors) in the presence of the following factors: Specific cancer features (triple-negative breast cancer, high-grade or metastatic prostate cancer), diagnosis at a young age (breast and colon cancer below the age of 50) and multiple or bilateral (breast, kidney etc.) cancers in patients themselves or their family members. Another risk group involves patients whose family members on one parental side have been diagnosed with types of cancer associated with each other, such as breast/ovarian, colon/uterus, sarcoma/leukemia/intracranial tumor.
Our physicians take the anamnesis of patients, review their investigation results and look into their detailed family history during a genetic consultation session, which lasts 30-45 minutes. Afterwards, genetic investigations suitable for the patient are determined, and interpretation of possible results are shared with them in detail. This allows the patient to make an informed decision on having genetic tests performed. Genetic investigations make it possible to find out genetic predisposition to cancer within a family, review treatment and protective surgery options, and employ screening programs for a chance of early diagnosis among family members at risk. Genetic test results are later evaluated together with the patient in a second consultation session, where individuals are informed further on follow-up, precautions and tests aimed at diagnosing other family members at risk.
Genetic consultation in the pre-conceptional and gestational period
Our prenatal genetics team offers genetic consultancy services and plans genetic screening and diagnostic tests for couples who present during pregnancy or the pre-conceptional period. Expecting parents are inquired about the family histories and the ongoing course of pregnancy during the genetic consultancy session, which lasts 30-45. This is followed with a risk evaluation and determination of appropriate genetic screening and/or diagnostic investigations in accordance with familial risks. Tests and risks are explained to the couple in detail. Pregnancies where an fetal anomaly has been detected are admitted to the perinatology council and evaluated in a holistic manner. Test results are shared in a second session of genetic consultation, allowing the couple to make an informed decision about pregnancy. A suitable follow-up schedule is drafted by our physicians in line with their decision.
Pediatric genetic diseases
Pediatric genetic diseases is a broad category that includes various conditions such as:
- Congenital anomalies
- Chronic diseases
- Chronic deficits
- Mental deficiency
- Growth-developmental delay
A child who has been affected by genetic disease may have either inherited the condition from one or both of the parents or be manifesting the genetic disorder for the first time. These cases are usually referred to for planning of genetic investigations after they have been clinically assessed at other departments and found to be suspicious for genetic conditions. The initial clinical evaluation may last up to 1 and a half hour and consists of inquiring personal and familial medical history, review of available medical records and a detailed physical examination. Results of genetic tests are conveyed to family members by our genetics advisors. Follow-up, additional investigations and consultations at other departments are planned on the basis of the diagnosis, and family members may be presented with various options aimed at mitigating risk in future pregnancies.
Muscle diseases council
Weekly neurology-medical genetics council meetings are being held for the first time in Turkey under the umbrella of the Muscle Diseases Center of Koç University Hospital in order to draft patient-specific diagnostic algorithms.
Perinatology-medical genetics meetings
Pregnancies where multiple or major fetal structural anomalies have been identified are evaluated at perinatology-medical genetics councils. Decisions on genetic investigations and follow-up are discussed at this council.
Multidisciplinary tumor councils
Our specialists discuss genetic test results of patients, as the case may require, at hematology, breast, gyneco-oncology, colorectal and other tumor council meetings to devise comprehensive treatment options.
Molecular diagnosis of facioscapulohumeral dystrophy
Our department stands out as the only center in Turkey where molecular diagnosis of facioscapulohumeral dystrophy can be made. Used for this purpose, the Molecular Combing System was integrated to our laboratory in 2019.
Immunomagnetic cell separation
The immunomagnetic separation method is utilized in cases of multiple myeloma and practiced alongside up-to-date applications like CD138 sorting.
In order to investigate pathophysiological mechanisms underlying rare congenital diseases, evaluate the genotype-phenotype relation and determine possible therapeutic objectives, we plan to launch preclinical studies on the zebrafish model soon.