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They decide what hair color we have. It depends on them whether we are nervous or more restrained. They can also answer the question of whether we are at risk of a serious illness or whether we will be able to live into old age in good health later. Although science has known them for a long time, their possibilities and rules they govern, still remain a great unknown. We talk to Dr. n. med. Anna Wójcicka from Warsaw Genomics and the Center of New Technologies at the University of Warsaw, co-author of the BadamyGeny.pl program.
Katarzyna Oleksik, MedTvoiLokony: What is the BadamyGeny.pl Program?
dr hab. n. med. Anna Wójcicka: In the BadamyGeny.pl program, we determine the risk of developing cancer. The program was created because there are 0,5-1 million people in Poland who were born with a gene defect that significantly increases their risk of developing cancer. While breast or prostate cancer is usually diagnosed around the age of 60, people with a genetic burden have been suffering from 20-25 years of age. – much earlier than we think about any prevention or diagnosis. We want to find these people and tell them how they should get tested so that they don’t get sick or detect cancer at an early stage when it is curable. The study is particularly focused on the analysis of genes related to breast and prostate cancer, as we have precise guidelines for the clinical management of patients undergoing stress. A patient may choose to perform an analysis of additional genes known to be associated with cancer, but we do not always have clear guidelines for clinical management.
The BadamyGeny.pl program promotes the slogan that you want to test all Poles, and we do not really want and like to do research, especially when the result may show that we are at risk and may develop cancer. Is it different in this case?
In fact, our goal is to test all Poles, hence the revolutionary price of the study – PLN 399. Performing the test for this amount imposes a certain limitation on us – to perform the test, we must each time gather a group of 600 people. The interest in the program is high, so we hope that there are many people among us who want to take care of their health and life. Right now on the site.
What do you ask about on the patient portal?
We ask for everything that will allow us to determine the risk of cancer. In the “medical data” tab, please provide information about the patient himself. We ask, inter alia, whether the patient suffered from cancer, whether he had been exposed to radiation, what kind of lifestyle he leads (diet, exercise). If it’s a woman, we ask if she ever had a lump in her breast, was she pregnant, or was she using hormonal contraception. Because all of this has an impact on the risk of cancer. The next point is the “family tree”, in which we carefully analyze the history of illness in the family. To commission the test, it is also necessary to make a payment, sign the final consent for the test and indicate whether we want to test only 14 genes for which we have clear recommendations regarding the procedure, or all, i.e. 70 genes. The price is always the same, i.e. PLN 399. If the patient would like to see a doctor who will help him make a choice, he can make an appointment for consultations, but they are additionally payable.
This is not a high amount, but I suspect not everyone can pay with the survey.
That is why we offer support to everyone in need. There is a “ask for support” tab in the patient portal, where anyone can request funding for the study; the amount of support may range from PLN 1 to PLN 399. Since we want as many people as possible to carry out the test, and there are many requests for funding, we first of all help those who are least short of the full amount. We perform the examination only after collecting the full fee for the examination. The money we use to fund the research comes mainly from donations from other patients.
How is blood supplied for testing?
First of all, it is important to do it as quickly as possible, thanks to which a group of 600 people for a given round of research begins. Our blood can wait any time until the whole group has collected, so please do not worry about its durability. Blood collection points are listed on our website – in Warsaw it is the Petra Medica clinic at ul. Omulewska 27, throughout Poland, downloads are carried out for us by Alab.
What do our genes say about us?
They decide about all the functions of our body, they also decide when certain organs stop functioning properly, i.e. when a disease develops in them. However, we must remember that in many diseases, genes are not everything, because we can change a lot with our lifestyle.
We have known the content of human genes since 2003, when the sequencing project, i.e. reading the human genome (set of genes) ended. Then a few thousand more genomes of healthy people were read, so we create a reference map of what is normal. On this basis, we know what deviates from this regularity and thus can cause diseases.
At this point, we know about 5-6 thousand genes that can be linked to the development of certain diseases or combined with a specific function in the body. Examination of them allows us to determine the risk of developing numerous diseases: we can determine whether we will have heart problems and act in time; we can also determine our cancer risk. Genes will also answer whether we have, for example, a very “popular” gluten intolerance and determine how we will react to a given drug. Genetic testing also allows us to determine the likelihood of passing the disease on to our children.
Thanks to the latest genomic sequencing technology, by performing a genetic test, we can look at all human genes, or read only a dozen or so or several dozen genes that are related to a suspected (investigated) disease. As part of the BadamyGeny.pl program, we only look at those genes that are known to be associated with cancer.
So we have an influence – despite what we have written in our genes – on whether we get sick or not?
Yes. In the case of cancer, 20-25 percent. illness is caused by a genetic defect with which we are already born. This burden means that our risk of developing cancer increases. For the average woman, the risk of developing breast cancer is 13%. – one in eight of us will develop this cancer at some point in our lives. However, if we are born with a damaged gene, the risk increases significantly, but it does not necessarily mean that we will have the disease. Even in the most aggravating mutations, called Angelina Jolie mutations, i.e. BRCA8 / BRCA1, the probability that the cancer will start to develop is about 2%. We still have 87 percent. the chance that the cancer won’t show up. At the same time, however, the risk is so great that it is worth introducing appropriate diagnostics and considering preventive measures. Knowing that we are genetically burdened – because the point is not to frighten – we can direct diagnostics to detect a developing cancer that we are able to cure at an early stage of development. What we do not know is why not all burdened people get sick.
So you just need to check yourself regularly?
Yes, but it has to be proper research.
Ultrasound and mammography are not enough?
For people with a genetic burden – not enough. The thing about cancers that are stored on our genes is that they show up early. In an average 25-year-old woman, no one considers that she may develop breast cancer, and no one examines her for this. Screening mammography tests are performed in women from the age of 50, because then the risk of developing cancer increases significantly. And for all those who are genetically burdened, it’s way too late. If we know that we can get sick and we start to be examined early enough, we have a chance to introduce treatment earlier and conduct it in such a way to overcome the disease. A woman who is at risk should have breast examinations from the age of 18, and an MRI from the age of 25, in order to quickly detect the developing cancer. Modern medicine has enormous possibilities and today cancer is no longer a sentence. Angelina Jolie decided to have her breasts, ovaries and fallopian tubes removed, which reduced her risk to almost zero. Preventive mastectomy can be performed so that no one will know if any surgery has been performed. In a situation where breast removal saves lives, no one focuses on aesthetics.
Why Cancer? After all – at least for now – we most often die from cardiovascular diseases. We are more afraid of cancer, which makes it more appealing to our imagination?
Certainly, perhaps because more is said about neoplastic diseases, hence they are associated with greater anxiety. And although most of us do not imagine that we can get sick, if we look closely, we probably all know or have someone in our family who has had cancer. If we know what the disease looks like and what burden it entails – for the patient and his family – we certainly examine ourselves more carefully and more often. Currently, it is believed that each of us will develop cancer at some stage, mainly because we live longer and longer.
Who is tested more often in the program? People who know what the disease is and have a preventive effect, or those who are just curious about whether they will get sick or not?
We are not able to say that yet. Nevertheless, we suspect that the burdened people report first, because they know what a neoplastic disease is and why it is worth diagnosing it as soon as possible. We will check the expectations and reasons why patients report for the study by using a questionnaire with several questions on the patient portal. We also want to know – once they get the result – what it means for them. This is very important for the continued care of patients. We want everyone to feel taken care of.
Will you care for patients also after your diagnosis?
To some extent, yes. When we perform a genetic test and combine its results with the patient’s clinical data and family history, we will place them in one of three groups. The first group consists of patients whose cancer risk is population-based, ie “average”. The second group of patients will be people with increased risk, the third group – with high risk. Each patient will receive clear recommendations on what tests and when to perform according to current guidelines in cancer prevention. Of course, people from the latter group will have to be given special care. Our research shows that up to 3% of people may belong to the high-risk group. our society.
That’s a lot?
Yes, I think a lot. Especially since half of these people did not have anyone in the family who had cancer, so they have no grounds to suspect that they may be burdened. Of each group of 600, up to 18 will be at high risk and require special care. Such patients will be invited to an interview with a clinical geneticist who will provide them with the test results and recommendations, and will also have the opportunity to consult an oncologist and psychologist – all included in the cost of the test. Then the patient will be referred to the ministerial program of care for families of high, hereditary risk of developing malignant neoplasms. As part of it, he will be able to perform appropriate tests recommended for him every year. Their selection and frequency are of great importance in this group. We often think that we are examining ourselves properly, and in the end it turns out that we do mammography instead of magnetic resonance imaging of the breast, and colonoscopy every 10, not every two years. Knowing about the genetic burden allows the patient to follow a specific diagnostic path and save him / her from dying from cancer.
How do people who find out they are at risk react?
It is very important that the person who decides to perform the test knows why he is doing it and is determined to do it. It should be noted that this type of genetic test is not a good gift for an eighteenth birthday. The person who comes to the test must be convinced of it. If she is confident in her decision, even when she finds out she is in a high-risk group, she is satisfied with the information received. She usually suspected before that she might get sick because she already had someone around her who had cancer. But she did not know what tests to perform and could not be included in any preventive program. Together with the result of genetic tests, it receives specific guidelines. He already knows what to do and is therefore mobilized to act. We must remember that even if someone in our family suffered from cancer, we have 50 percent. the chance that we will inherit a pathogenic genetic change.
How is your method of gene testing different from the one that is commonly used?
The genomic sequencing method we use is nothing new. It has been used in diagnostics for several years and has revolutionized the genetic testing market. Unlike traditional methods, genomic sequencing allows you to study any number of entire genes, not just some of their points. In commonly performed studies, a woman with a family history of breast cancer has tested 8 potentially pathogenic changes in the BRCA1 gene and several points in an additional 2-3 genes, a total of several potentially pathogenic points. Meanwhile, in the BRCA1 gene alone, there are over 2 pathogenic points. Thus, if we do not find any mutation in a traditional study, it does not mean that there is no mutation – it may be in areas that have not been tested. Our research differs in that we examine the entire gene, not just selected points. Since we look at every fragment of the gene, no mutation will escape us. In addition, one study looks at all the genes that are proven to be associated with cancer. Moreover, we managed to change the sample analysis algorithm in such a way that we can perform the test 400 times cheaper than in the world. For this to be possible, we must simultaneously examine material collected from 20 patients.
Can the study show that the most common cancer statistics will change?
No, because these statistics are based on patients who are already ill and there will be no changes here. The knowledge gained during the BadamyGeny program will, however, answer the question why we get sick. The combination of genetic and clinical data, i.e. why each of us gets sick differently, will allow us to approach each patient more individually over time and develop a treatment regimen that is best and most effective for him.
And what do we, as a society, really know about cancer?
I don’t think much. We know that they are and that they are common. Unfortunately, there is still a perception that cancer is a death sentence. We do not test ourselves because we do not understand why we should do it, and we do not associate tests such as cytology, mammography or colonoscopy with a real impact on our own health. We do not realize that early cancer detection gives a chance of recovery. Very often, cancer can be a chronic disease, not a fatal one.
Even if we know that we are at risk, do we have a chance to change something by changing our habits?
Yes, because even if we have a high risk – around 87 percent. – we always have 13 percent. the chance we won’t get sick. Exercise, diet, giving up stimulants can really make a difference. In combination with regular diagnostics and prevention, they can help us control the disease.
But do we want to change that?
Probably yes. Patients who have made the decision to perform a genetic test, put so much effort into filling in the questionnaire and went through a long registration process, know why they are doing it. If they receive a clear message on how to live a healthy life, they follow the recommendations. After all, we all sometimes need someone to take care of us and, at least partially, show us what path we should go. Especially since health is so important.
And what harms us the most?
Definitely cigarettes. It is lung cancer that takes the toll. But what many of us don’t know is that cigarettes aren’t just bad for your lungs. Smoking can lead to cancer of the larynx and bladder. More and more children around the world suffer from cancer because they have been passive smokers. We are also harmed by a bad diet and lack of exercise. A daily, half-hour walk is enough to change a lot.
When is the best time to do this genetic test?
Between 20-35 years of age, and preferably people who are 20-25 years old, do the research – this is the best time to start regular research and make it a routine for us. On the other hand, we receive the most applications from people between 40-45 years of age. This is the moment when a person achieves a certain life stabilization and begins to think about their own health to keep it as long as possible.