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The detection of genetic changes that lead to the formation and development of cancer opens up a chance for patients to choose the most effective therapy. It makes it possible to find out the cause of resistance to the therapy used so far and helps the doctor in the further treatment of the patient – explains biotechnologist, Dr. Paweł Zawadzki, pioneer of genomic diagnostics in Poland.

  1. Whole genome diagnostics is a relatively new method
  2. It is not widely used yet
  3. Whole genome sequencing gives a chance to select the most effective form of therapy for cancer patients
  4. More current information can be found on the Onet homepage.

Whole-genome diagnostics – what is it?

Thanks to the whole genome diagnostics, the most complete information about the genetic causes of cancer is obtained, as whole genome sequencing (WGS) is used. Whole Genome Sequencing) and specialized data analysis. In order to perform the test, access to a chemically unfixed tumor sample obtained during surgery or core-needle biopsy is necessary.

– Whole genome diagnostics is not widely available yet, because it is still a young method of DNA analysis, developed less than a decade ago. Research of this type is carried out mainly by highly specialized units explains Dr. Paweł Zawadzki, biotechnologist, scientist, CEO at MNM Diagnostics and the Polish BioBanking Center, the first in Poland and one of the few compatible units in Europe that provide the possibility of carrying out genome-wide diagnostics and cancer banking. – Thanks to our commitment, an analytical technology based on artificial intelligence has been developed, enabling in one short study to read a «text» consisting of more than 3 billion letters, as well as extract valuable information from the reading that will help in making favorable therapeutic decisions. Due to the enormous amount of information contained in the human genome, it took a team of 15 developers almost two years to develop this technology.

How is the whole genome diagnosis performed?

The process begins with collecting a sample of biological material from the patient, from which the genetic material in the form of DNA will be isolated. The following are obtained: peripheral blood, which will serve as a model for the analysis of genome-wide data, and a fragment of neoplastic tissue from a biopsy or surgical tumor removal. The collected material is then properly protected to prevent degradation of the DNA contained in it.

In standard diagnostics, the tumor fragment is fixed with formalin and paraffin. Thanks to this, it is possible to perform a pathomorphological examination, i.e. to determine the type of tumor and its other features. Unfortunately, this method of preservation causes gradual degradation of the genetic material, making the sample unsuitable for use in genome-wide diagnostics.

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In order to maintain the high quality of the DNA contained in the tumor cells, the fragment of the tumor collected during surgery or core-needle biopsy, which is necessary for the whole-genomic diagnosis, must be secured differently. The sample is immersed in a special buffer and then stored in appropriate conditions until it is needed. This is called banking.

– Thanks to banking, each patient has the possibility to carry out full-genome diagnostics at any time. In this process, the attending physician is indispensable, because he or she informs the patient about the possibilities of testing the entire DNA and storing the collected biological samples for future use. He also issues a referral for the examination and deposit of a biological sample at the Polish BioBanking Center, where we store tissue material for 30 days free of charge, and it is possible to extend the storage to 3 years at the patient’s expense – says Dr. Paweł Zawadzki.

Whole-genome test report, or what the patient gains

The results of genome-wide diagnostics are presented in the form of a report sent to the patient’s doctor. This report is a source of information for the doctor and a support in choosing the optimal therapeutic path for a given patient.

The targeted therapy can be precisely selected based on individual genetic changes in the patient. This modern tool of personalized medicine is based on the selection of a drug aimed at treating disorders caused by specific genetic changes in a given patient. This therapeutic approach has many benefits, including it is possible to minimize the risk of side effects, and effective treatment is implemented faster.

To use the possibility of storing a tumor sample for whole-genomic diagnostics, please contact the Polish BioBanking Center. – The decision to secure the tissue is made together with the attending physician and must be made before performing a biopsy or surgery – reminds Dr. P. Zawadzki from MNM Diagnostics.

The article comes from the “Diagnosis: Cancer” campaign prepared by Warsaw Press and whose media partner is medTvoiLokony. All materials can be found on http://www.warsawpress.com/

Also read:

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  2. «Terrible tragedies take place behind the walls of the hospital. Nobody sees it »
  3. Polish women die of breast cancer. Money from the government is not helping
  4. WHO: Breast cancer is the most commonly diagnosed cancer in the world. Not lung cancer anymore
  5. Poland: more and more malignant tumors

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