The genetic medicine is a little-known medical specialty that is revolutionizing healthcare. It focuses on the use of an individual’s genetic and genomic information to guide medical care. In this regard, technological advances have made it possible to identify genetic abnormalities and mutations with unprecedented speed and precision, significantly improving the capabilities of previous methods. Dr. Javier García Planellsresponsible for the Genetic Medicine Unit at the IMED Colon Hospitaltells us all the details of his specialty.
Differences between genetics and genomics
Genetics consists of the study of individual genes and how these are inherited from one generation to the next. It focuses on how certain traits or diseases are passed down through families. However, Genomics is the study of the complete genome of an organism.including all its genes, regulatory sequences and its interaction with the environment.
Dr. Planells gives us a simile to understand it better: “Genetics normally studies small DNA variations. associated with specific characteristics and how these are transmitted through generations. DNA is the molecule that serves as a support for storing the instructions for life in each of our cells.
Genomics allows us to analyze all of those instructions at once, so its level of magnitude is much more complex“.
Genetic testing at IMED Colón
The IMED Colon Genetic Unit Its objective is to provide information and solutions to identify all those patients who have a genetic disease, have a family history or some type of risk, or simply have some concern about a genetic disease or condition.
“Lung cancer is one of the leading causes of preventable and avoidable cancer”
For example, patients with rare diseasesit takes between 5 and 7 years to obtain a diagnosis and, in many cases, this diagnosis is wrong. The objective of the Genetic Unit is to make available to patients all the information and resources available to reduce these times, facilitating clinical guidance and access to the most innovative and precise genomic technologies. In a large percentage of cases we can reach a response between 1 and 2 months from the first consultation.
Facade of the IMED Colon hospital. / ED
Tests can detect rare diseases
Las rare or minority diseases are those that have a low frequency in the population, for this reason they are little known and their diagnosis is complex. Despite their low frequency, their impact on Public Health is high, since More than 7,000 are known. Thanks to new technologies, we can offer more precise, faster and cheaper tests. We can even offer preventive studies that allow us to identify risks at different levels: preconception, prenatal or neonatal. “In this way, preventive measures can be proposed at a reproductive level, an early diagnosis can be obtained, or even treatments can be provided that prevent or considerably reduce the effects of the disease,” says the doctor.
And he continues: “When a patient is born with a disease of this type, a large percentage of them occur at the pediatric level, are serious, and frequently produce physical alterations. The family and social impact is very large, and Traditionally this type of patients stayed at home and the problems arising from the diagnosis and the illness were managed in a closed family environment. Fortunately, now, people with These rare diseases demand visibility and they share their problems with society. In this way, resources and research for the improvement and treatment of these diseases increase every year, improving the quality of life of these people and obtaining earlier and more efficient diagnoses.”
Does cancer have a genetic origin?
“Yeah, We can say that cancer is a disease genetics”, says the doctor. The different types of cancer originate mainly from a series of mutations in the genome that alter the control and regulation mechanisms of the cells, leading to uncontrolled cell proliferation. These mutations can occur in different ways. Some can be inherited and Families carrying these mutations have a higher risk of cancer than the rest of the population and early detection allows for the application of preventive measures. Hereditary cancers account for less than 10% of cases. The rest of the non-hereditary mutations in the genome occur mainly due to errors in DNA replication during the cell division process, the more divisions (older the age), the greater the probability of errors or due to external agents that cause them. For example, Lung cancer is one of the leading causes of preventable and avoidable cancerit is only necessary to limit exposure to the main known agent causing these mutations, tobacco. Furthermore, it is possible to estimate the number of mutations accumulated per cell based on the number of cigarettes and the time.
«Today we know that the main genes traditionally implicated in breast cancer are now also mutated in many other types of cancer»
Biologically, we have repair genes that are responsible for minimizing these effects, but they cannot always do so, either due to age, the persistent action of mutagenic agents or other factors that cause the repair function to be incorrect.
Most common hereditary cancers
The most common hereditary cancers are he breast cancer and colon cancer. “The important thing in these cases is to identify families that have a higher family aggregation of cancer in order to make an early diagnosis and prevent other cases in the family. If there are different types of cancer in the same family, there may be the same factor that causes them. For example, we now know that the main genes traditionally involved in breast cancer are now also mutated in many other types of cancer, such as in ovarian cancer, pancreatic cancer, or prostate cancer. And treatments for breast cancer can also be extended to these other types of tumors. And this list will surely grow as research and knowledge continue to advance…” warns Dr. Planells.
