Laniakea

Genetic diseases are pathological conditions with signs and symptoms that occur as a result of anomalies in our genes and chromosomes. These diseases can occur in people for the short-term or long-term, although they do not affect them but may be transmitted to their offsprings.

More than 6,000 genetic disorders have been identified, including cancer. As consanguineous marriages which have a great effect on the risk for the developing of genetic diseases are very common in Turkey with at higher level incidence.

Patients whose test results show severe signs and symptoms are checked by doctors of medical genetics department. People who have been diagnosed with a genetic disease are informed about being carriers of any disorder under patient counseling.

SMA, which has been the most common and severe inherited condition that affects nerves and muscles, causing muscles to become increasingly weak can be identified with premarital genotype screening, so a couple is usually required to undergo a screening for a pre-marriage health report. Therefore, the preimplantation genetic diagnosis method is used for premarital couples with a high probability of having a child with SMA. Actually, by using in vitro fertilization method, the family can have a child in that genetic tests are applied.

In all genetic diseases, the process does not proceed in this method. Cancer also may be caused by inherited genetic changes but having cancer tests before pregnant is not usually required. So, carriers with an inherited cancer susceptibility syndrome  are referred from the oncology department after available genetic testing, then special genetic counseling is given them to help understand their risks for developing cancer and to take treatment with gene mutation‐based and specific therapies.

Extracting DNA from blood indeed assists us to know our genetic makeup and define genetic diseases before onset steps. But the complex procedure of determining a genetic diagnosis in hospitals takes longer time than other test results. In compared with traditional sequencing technologies, a more detailed result on investigating genomics and its applications can be obtained by next-generation sequencing.

Zişan Dinçler, The Konya News, July-August 2023