Gene profiling is one of the methods on how to change a patient's care and how to implement personalized health care.

Information can influence the access to healthcare – through the data from everyday medical practice, molecular information obtained from human genome sequencing, from mobile devices and apps and even from new clinical studies. In the past, the cancer was categorized mainly by the location in the body. Depending on the stage of the illness, many patients with a specific type of tumor have been treated with the same type of treatment – for example, with chemotherapy. The weakness of this classical approach could be the fact that even though the location of the tumor is the same, changes in the patients’ DNA that caused the cancer onset, are different. This fact makes every type of cancer very specific.

Modern medicine brings us knowledge – every type of cancer is based on the changes in the genome of the patients’ tumor. This way, scientists are able to invent medicines, which are more personalized and focused on specific gene mutations. Genetic testing gives us a clear picture about cancer and the results will help medical professionals to identify whether there is a targeted treatment based on the patients’ genetic profile available, or if the patient is a potential candidate for a clinical study.

Looking for the most effective treatment

Why do two patients with the same diagnosis react to the same treatment differently? The answer to this complicated question can be provided by genetic tests, the necessary part of personalized medicine. With the help of technologies, like human genome sequencing, the mutations of a tumor and its other molecular properties are identified, and by that can technologies help to find the most effective treatment.

Liquid biopsies provide non-invasive screening for the progress of cancer and thanks to this method, the healthcare professionals are able to adjust the treatment regimen. Genome profiling is one of the ways of how to change patients’ care and pursue personalized healthcare.

Benefits of gene testing

There are different mutations involved in the development of cancer. Those mutations are present in cancer cells and they have a crucial effect on how the tumor reacts to the specific treatment. The exact knowledge of changes in cancer cells can help to review the therapy on which the patient reacts the best. This individual approach in setting the treatment is the base on personalized healthcare.

The basis of personalized healthcare is the use of the knowledge about genetic changes in the tumor for the more precise determination of treatment and for better monitoring of medications’ efficacy. Genetic changes of the tumor can be followed through the biomarkers. Genetic biomarkers are specific molecules on the surface or inside of cancer cells. Their presence or changes in structure provide a lot of useful information about future disease development. They tell a lot about how the disease will behave, they can reveal the aggressiveness of the tumor and the probability of metastasis. Genetic biomarkers help to set up the whole treatment strategy because they predict the probability whether the exact medication will be effective or not.

Genetic tests are also used to identify whether some specific genetic changes are present in the cancer cells. Mutations also influence the look and structure of the cells‘ surface. Therefore it is possible to study changes not only on the genetic level but also on the molecular and cellular level.

How does the biomarkers testing work?

A sample from the tumours‘ tissue is taken. This sample is tested for the specific biomarkers that are known for their genetic mutations in a particular cancer type. If the mutation in the tissue sample is confirmed, it is possible to set up therapy for a patient with a drug specifically targeted on the specific gene. Thanks to targeted effects are abnormal processes of cancer cells growth slowed down or ideally suppressed.

It is possible to avoid the less effective treatment for a patient if the doctor orders to perform the test. Thus it is important to examine the cancer tissue thoroughly for the changes of genes typical for the tumour in order to choose the best treatment for a patient.[3]

In the present, three types of genetic tumour analysis exist:

1.)   Analysis of specific biomarker

2.)   Targeted panel sequencing

3.)   Comprehensive genomic profiling of tumours [4]

How do genetic tests used in cancer analysis differ from each other?

1.     Analysis of a specific biomarker is currently the most common version of tests used in tumours diagnostics. The fundamental principle is in the testing of only one or more genetic changes determined in advance, that are typical for the specific type of cancer. It means that tests with a single marker determine changes in one gene or protein connected with a specific type of cancer.

2.     Targeted panel analyses used in modern diagnostic methods, so-called sequencing methods. By sequencing of DNA, it is possible to decode in advance defined regions in the genome and by that to identify the changes in genes that participate in the onset of cancer. Panel analysis can be used for determination of characteristic changes. Tests do not have to necessarily reveal mutations, that are not that common or changes, that have not been associated with cancer before.

3.     Comprehensive genomic profiling of tumours‘ genome is based on the most recent methods of DNA sequencing. One sample of the tissue is used for complex examination of alterations in all currently known genes associated with the onset of cancer. Moreover, thanks to the complex profile of the tumour, it is possible to identify genetic changes that are rarely connected to the specific tumours‘ growth. This opens up new possibilities of treatment and potential answers for doctors – for example in the case of previous patient‘s treatment failure. [5]

Which specific test do we use and when?

For the various types of cancer, all types of analyses mentioned above are used, because they bring different advantages from the view of treatment options. However, it is up to the doctor to evaluate which analysis is the best for a specific patient. Genetic analyses provide important starting points for specific treatment regimens in various types of cancer. Precisely targeted testing and gene profiling of tumours are fundamental for personalised treatment for a particular patient.

Hope or one-way road?

Nor complex tumour profile is a guarantee of finding a suitable treatment. For certain genetic changes that lead to the onset of tumour growth, approved targeted therapy still does not exist. However, the results of the test can be used for the identification of corresponding genetic changes. Patients can participate in appropriate study, in which new medications for this particular mutation are tested. There are also situations in which it is impossible to analyse DNA. Patients can consult with the attending physician in that case.

Results will be explained by your doctor

It is important to realise that even though the analysis provides valuable information, which can help you with informed decision making about treatment regimen, there is no guarantee that the recommended treatment will be truly effective. The reason for this is that cancer is a complex disease caused by many factors and the response to treatment varies from one individual to another.

Cancer genome analysis results

Results from the analysis are delivered in the form of report that contains information about DNA changes found in tumour cells. A test for cancer genome analysis does not provide information on whether founded changes are hereditary, thus inherited from parents.

Personalised healthcare system is a „precise health care system“

Scientists in recent years discover more and more markers of cancer. Based on these discoveries, there are new medicines invented gradually. They are aimed at specific markers of cancer. With the rising number of known cancer markers, the number of personalised medicines rises analogously. This allows them to react to the patient‘s tumour adequately. That is why the personalised healthcare system is also called a „precise health care system“.

Moreover, with the help of biomarkers and complex profiles of tumours, doctors are able to create individualised treatment regimens for patients with cancer. With this approach, it is possible to adjust therapeutic plans exactly according to the type of patient‘s tumour. This has several advantages – on the one hand, the medicine is used only in patients who are likely to respond well on it. On the other hand, this type of treatment can decrease the costs of therapy and reduce side effects.


[1] https://www.roche.hr/hr/personalizirana-skrb/svaka-je-osoba-jedinstvena-kao-i-svaki-rak.html

[2] https://www.roche.hr/hr/personalizirana-skrb.html/.html#mozeli

[3] https://roche-fokus-mensch.ch/pm/personalisierte-medizin/gentests

[4] https://roche-fokus-mensch.ch/pm/personalisierte-medizin/gentests

[5] https://roche-fokus-mensch.ch/pm/personalisierte-medizin/gentests