- # Coalition for the lives of people with mutations in the genes BRCA on Thursday inaugurated the Molecular Diagnostics Council, which will cover ovarian, breast, pancreatic and prostate cancers
- Today, cancer cannot be treated properly without genetic diagnosis, says Prof. Jan Lubicski
- All adult Poles must have tested the ground mutations for BRCA1/BRCA2. The cost would not be high, because in the conditions of mass testing it would be PLN 100 per person to spend once in a lifetime – he states
- We are in the process of finalizing a project where the study of 2,200 mutations and functional changes for the Polish population, including several hundred BRCA1/BRCA2 mutations, will cost 35 euros. The project will enable mass testing and this fact alone is a huge step forward – he points out
- The expert also referred to the Program for Care for Families with a High Hereditary Risk of Developing Malignant Neoplasms, which will only be extended until the end of August for the time being
- Maximum mobilization is needed so that these opportunities are not wasted and the work on the transfer of the program from the Ministry of Health to the National Health Fund is not neglected – emphasizes Prof. Lubinski
The Council for Molecular Diagnostics is about to start
– The # Coalition for the lives of people with mutations in BRCA genes has been working on ovarian cancer for two years now, but as there are more BRCA-dependent tumors, we want to gather more expert groups and patient organizations around us – she said on Thursday during the conference to open the Molecular Diagnostics Council Elżbieta KozikPresident of the Association of Polish Amazons Social Movement which co-founded the Coalition.
– Under the “umbrella” of the Councils will fall: ovarian cancer as before, but also breast, pancreatic and prostate cancer. We would like to remind you that today it is impossible to talk about targeted treatment without genetic and molecular tests, and the work on the availability of these diagnostics for Polish patients will be carried out in the groups of these cancers – pointed out to them .
– We want these tests to take place at the beginning of the diagnostic process. They will be important, because of the possibility to implement prophylaxis, also for the families of patients – she added.
“Genetic research techniques are now much cheaper than they used to be”
As he remembered Prof. Jan Lubicski, head of the International Hereditary Cancer Center and the Department of Genetics and Pathomorphology at the Pomeranian Medical University in Szczecin, today it is impossible to properly treat tumors without genetic diagnosis. “There is, of course, the issue of algorithms – how to structure these studies and when is it medically and economically effective,” he added.
– If it were up to me, all adult Poles and all Polish women would have their native mutations tested for BRCA1/BRCA2. The cost would not be high, because in the conditions of mass testing, it would be PLN 100 to spend once in a lifetime – the expert argued.
He emphasized that genetic testing techniques that used to be very expensive are now much cheaper. – 20 years ago, BRCA1/BRCA2 sequencing cost over $3,000. At the moment this amount is at least ten times lower – he argued.
“Our project enables mass testing”
– An important project in progress at our center is nearing completion. in there we are working on a chip in which we will insert 2,200 mutations and functional changes for the Polish population, including several hundred BRCA1/BRCA2 mutations that have ever been described in our country – be Prof. Lubinski.
– The genetic test can be performed very quickly – the result should be known within two days. It will not only be fast, but also cheap, because the study of these 2,200 mutations costs 35 euros. The sensitivity will not be 100%, but I can assure you it will be very high. The bottom line is that this the project enables mass testing and this fact alone is a huge step forward – judged the expert.
“Genetic testing is not a threat, but an opportunity”
As Prof. Lubiński, it is more effective to test BRCA1/BRCA2 in families with previous BRCA-dependent cancers, especially breast and ovarian cancer.
– Only about 50 percent. women who have these mutations, no one in the family has had these cancers before. This situation most clearly shows that the test for establishing mutations must be carried out by everyone in Poland – he emphasized.
– It is also worth remembering that BRCA1/BRCA2 mutation can be inherited from both mother and father† If the father has prostate cancer, the daughter may develop another BRCA-dependent tumor. The effect depends on the main mutation, but sometimes even more so on the so-called modifying factors, ie genetic and environmental changes. For example, a woman with a BRCA1 mutation has a 30 percent chance of developing ovarian cancer. However, if the cancer developed, that just meant being exposed to the remaining 70 percent. other factors leading to cancer, he explained.
– Genetic testing should not fear, because knowing that we are carriers of the BRCA1/BRCA2 mutation is not a threat, but an opportunity that can save lives – cause us not to get sick, and even if we do, we will be treated effectively – argued Prof. Lubinski.
“I can’t imagine giving up caring for people from the highest risk groups”
The expert also referred to the Care Program for Families with a High Hereditary Risk of Developing Malignant Neoplasms. As he said, the program is being transferred from the Ministry of Health to the NFZ. For now, it has been extended until the end of August, but it is not certain whether it will still be available for use after this date.
– I cannot imagine a scenario in which we deviate from the care for people from the highest risk group, in which we can also act positively. For now you can see that maximum mobilization is needed so that these opportunities are not wasted and the work on the transfer of the program from the Ministry of Health to the National Health Fund is not neglected – noted Prof. Lubinski.
– The current implementers of the program, the Polish Society of Human Genetics and patient organizations should strongly support this. The greatest burden of the work now rests on the National Health Fund and its success, ie the ability to run the program from September 1, will depend on how it will be implemented there. The most important thing is to maintain the ability to implement these benefits, he stressed.
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