The study of the genome is a service that is recommended for patients who have been diagnosed and family members whose case suggests a hereditary component of the disease. In this way, these patients can access a complete genetic counseling service in Urology.
In case it is confirmed that the pathology responds to a genetic basis, it will be possible to deduce which members of the family are subject to a higher risk and which are not. In this sense, the former can benefit from a correct follow-up aimed at early diagnosis and treatment, and the latter can know that they are free of risk beyond the risk associated with the general population.
In which cases is genetic screening indicated?
It is advisable to perform a genetic study when a pathology:
- Appears early
- Appears in different members of the same family
- It manifests specific conditions, such as metastasis in the case of prostate cancer.
In these cases, there may be a hereditary basis, so genetic testing of patients and family members is recommended in the context of genetic counseling.
What information does the genetic study provide?
At the clinical level, the genetic study aims to confirm the possible genetic basis of the disease in order to provide the patient and his family with an accurate diagnosis, as well as the appropriate counseling by the geneticist and the pathology expert.
Even so, this study can also be performed in healthy people to detect predispositions to develop pathologies and facilitate their early diagnosis.
How the genetic study is performed
There are a series of steps to follow in the diagnosis based on the genetic study:
- After studying the case, the urologist indicates the most appropriate test for the patient’s clinical condition.
- The sample is taken in a simple way.
- The sample is analyzed.
- The medical team informs the patient about the result in the framework of a post-test genetic counseling.