Why do genetic tests?

The development of genetic research meant that medicine began to move towards personalization, i.e. selecting the appropriate therapy for a specific patient.

Genetic tests allow you to assess the risk of developing various diseases. They are also used to treat many diseases. Thanks to them, it is possible, for example, to check whether a tumor in a particular patient will respond to treatment with a given drug. This enables the therapy that will be most effective for the individual patient to be used.

The average patient doesn’t exist

It took 13 years to decode the human genome and cost $ 3 billion. It was to medicine what the landing of a man on the moon was to astronautics. A gene is like an instruction that determines the appearance of our body. Genetic differences between people and mutations in genes mean that any disease can have as many faces as people suffering from it. The current approach to treatment based on averaged results of clinical trials used to create one principle of treatment turned out to be ineffective, because genetic studies showed that the so-called the average patient does not exist. Hence the concept of personalized medicine, i.e. the right treatment for the right patient at the right time. This saves patients from discomfort undergoing aggressive, but ineffective therapies. It also reduces expenses and contributes to a more efficient health service.

Personalized cancer diagnosis

In Poland, every fourth person will develop cancer because they were born with a genetic burden. The family cancer risk is linked to changes in around 60 genes. – We are able to test them all in one analysis. It takes no more than 4 weeks. Based on the results, diagnostics and treatment can be adapted to a specific patient, says Dr. Anna Wójcicka from the Department of Genomic Medicine, Medical University of Warsaw. As much as 82 percent. cancer of the colon has a genetic burden. Knowing about it allows you to implement scheduled diagnostics. Thanks to this, polyps that could develop into a neoplastic lesion can be detected and excised early. Likewise with breast cancer. The risk of falling ill is 13 percent. population, but 80 percent. of them are genetically burdened. Interestingly, the presence of mutations in the BRCA1 and BRCA2 genes, although it increases the risk of breast cancer, also reduces the mortality rate in ovarian cancer. However, mutations not only in the BRCA1 and BRACA2 genes are responsible for the development of breast and ovarian tumors.

Tailored treatment

Molecular diagnosis of cancer is an element of personalized medicine. It is she who makes it possible to use the therapy that will be most effective for a given patient. – The rules of targeting in pharmacotherapy are almost the same as in shooting. We will only hit when the weapon is aimed with the greatest accuracy – explains Prof. Dariusz Kowalski from the Department of Tumors of the Chest and Lungs of the Oncology Center in Warsaw. A spectacular advance in the field of breast cancer treatment was the introduction of a drug for patients with overexpression of the HER2 protein. Also, personalized melanoma therapy brings tangible results. – 60 to 70 percent respond to such treatment. patients, while 6% undergoing chemotherapy. – emphasizes Dr. Ewa Kalinka-Warzocha from the Woj. Szpital Specjalistyczny im. M. Kopernika in Łódź. Thanks to molecularly targeted therapies, it was possible to extend the life of palliative patients with lung cancer by up to five times.

Even more genetics

In order to provide Polish patients with wider access to the successes of personalized medicine, it is first of all necessary to improve genetic and molecular diagnostics. There are too few genetic clinics in Poland. There are about 80 clinical geneticists, and the NHF’s evaluation of their services is so low that it is difficult to expect that there will be more of them. It is also important that the NHF budget includes money for molecular tests on cancer patients, because they decide on the use of an expensive drug. It is also necessary to improve the availability of molecularly targeted therapies. In Poland, new drugs of this type reach reimbursement too late.

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