Medicover
Until recently, treatments based on using average results of clinical trials to create a single rule of conduct were treated as dogma. When they failed, the explanation was that some patients respond to treatment, while others simply do not. As a result of this approach many patients underwent therapy, which in their case could never be effective. Thanks to deciphering the human genome, we now know that every disease can have as many faces as the people suffering from them, and there is no such thing as an average patient. This has changed the paradigms of treatment.
Genetic testing and cancer
However, the presence of mutations in the BRCA1 and BRCA2 genes increases the risk of developing breast and ovarian cancer. Women with such a mutation should examine their breasts more frequently. They can also opt for a preventive mastectomy.
Genetic testing beyond cancer
Personalised medicine is most widely used in oncology. However, it is also becoming increasingly popular in cardiology, rheumatology, Alzheimer’s and Parkinson's disease and many other conditions. Genetic tests prevent the effects of hereditary hypercholesterolaemia in carriers of mutations in the LDLR receptor gene. They are part of the risk assessment for diabetes, cardiovascular diseases, such as hypertension, myocardial infarction, thrombosis due to genetic predisposition, and osteoporosis.
Personalised approach in cardiology is used to choose prevention measures depending on risk factors. Pharmacogenomics are also helpful, such as in the case of statin therapy, where the variability of side effects is enormous. Genetic assessment in cardiology also allows us to diagnose rare monogenic diseases, e.g. genetically determined hypercoagulability, familial hypercholesterolemia, arrhythmia, long QT syndrome, cardiomyopathy, and pulmonary hypertension. Determining the risk of disease in children allows early implementation of preventive measures, such as implantation of a cardioverter-defibrillator (a device that restores normal heart rhythm).
Genetic testing is useful, among others, in cardiology, rheumatology, Alzheimer's and Parkinson's disease.
Genetic testing and treatment effectiveness
Some diseases are characterised by genetically distinct subtypes. For this reason, the same disease in different people can have a different clinical course and different prognosis. Patients with the same disease may require individual treatment regimens. This is why molecular diagnostics is the basis of personalised medicine. It allows you to choose the right therapy that will be the most effective for a given patient. Thanks to it, you can, for example, check whether the cancer of a particular patient will respond to treatment with a given drug, which makes it possible to provide the most effective treatment to the patient. It saves the patient the discomfort of going through an aggressive, but not effective treatment. It also reduces expenses and contributes to more efficient healthcare services. Personalised medicine also improves the doctor-patient relationship, because it increases the patient's trust in the person treating him.
Genetic testing and cancer treatment
Personalised medicine gives hope to many people with cancer. Thanks to it, many malignant cancers have become chronic diseases. It allows to effectively treat aggressive breast cancer with the HER2 overex.pression factor, improve the prognosis of people with lung cancer with mutations in the EGFR or ALK gene, as well as melanoma patients.
The current targeted drugs include 73 percent of drugs for melanoma, 51 percent for colorectal cancer, 32 percent for breast cancer and 21 percent for neck and head cancer. At the end of 2016, there were already 137 personalised drugs on the market based on a study of a specific biomarker. One year later, the first three gene therapies were approved. One in four new drugs approved by the FDA is a personalised drug. It is estimated that over the next five years, personalised drugs will account for 69 percent of all medicines.
Choosing the right diet and exercise programme based on genetic tests
Genetic tests help detect predisposition to food intolerances. They can be helpful in preventing obesity. Using the innate predispositions of the body, they are useful as tools to design appropriate diet and exercise programmes. Genetic tests allow us to choose the most effective therapy for a particular patient. In this way, genetic science realistically affects the quality of our lives. Nutrigenetics help us care for our appearance and health. Genetic tests give us information about our body, how it absorbs nutrients, for example vitamins A, B12, C, D, E, folic acid, calcium and iron. This knowledge provides the basis for designing a personalised diet.
Personalised medicine in Poland
Genetic tests are becoming increasingly more common in Poland. If you choose to do them, make sure that the facility that provides them ensures the safety and protection of sensitive patient data, which are the results of genetic tests. If the tests detect the presence of mutations in the genes, the doctor must design an individual plan of prevention and early detection of changes.
