Ik heb wel eens in de krant gestaan, maar dat was met een klein stukje zonder foto over een ongeluk ergens waarbij ik het slachtoffer was. Ana pakt de zaken beter aan. Een interessant artikel over haar werkzaamheden, alleen is het in het spaans. Hieronder de (geautomatiseerde) engelse vertaling.
The brigade against the cancer
The equipment of the Unit of Genetic Advice of the Clinical Hospital San Carlos from Madrid to the complete one with its head, doctor Pedro Perez-Segura, to the front.
Oncologos, psychologists and genetistas work to the unisonous one to predict, by means of the study of the DNA of the patient, if it will undergo a cancer in the future. The pioneering unit in Spain, the one of the Clinical Hospital San Carlos, tells us how it faces this challenge.
To suffer a cancer is not synonymous of death. The increase of the precocious detection of tumors, the social awareness on the disease and the new farmacologicos treatments have elevated a ten percent the rate of survival of these patients during the last decade. The number is high, but nonsufficient. For that reason, the Spanish oncologos have gotten involved in one fourth battle: the precocious detection of the genetic alterations that can ready to certain people and their families to develop a tumor, which happens almost in a ten percent of the cases.
Mutations of concrete genes cause, for example, the cancer of familiar breast, the one of nonpoliposico colon or the adenomatosa poliposis, that strike repeatedly to same families two and up to three times. Soon there are cancers in which the mutations appear with irregular patterns within a same family. And, later, other few obey to the recesivo hereditary model, in which each son has a 50 percent of probabilities of inheriting the mutation that, with total probability, finishes causing the tumor. In all the cases, the turn out to inherit a mutada copy of some defective gene is an increase of the probability of suffering the disease.
In those occasions, the precocious detection of the mutation is vital. And that one is the objective of the units of genetic advice, that have begun to be implanted in certain hospitals, work groups you will multidiscipline, made up of genetistas, psychologists, oncologos, analysts of infantile and colorrectal molecular laboratory, endocrinologos, dermatologists and gynecologists, that have special fixation in the tumors of breast and ovary and in the cancers renal, ocular, being, between which they count on a genetic base, those that attack most frequently.
The idea of these equipment, that they come restoring from 2001 from the Program of genetic advice, of the National Center of Investigaciones Oncologicas (CNIO), is clear: to evaluate if a person has hereditary predisposition to suffer a cancer and to take part in her while still she is healthy.
Step 1: identification of the person in risk situation
To be surrounded by cancerous relatives must be the alarm signal that alerts of the necessity to make a genetic study. If in its family, throughout several generations, there have been of two three patients of the same type of cancer; if several alive members of her have tumors, independently of which they are; or if there are several cases of early appearance of these (below 40 years), the study is done forced.
When the attending physician or the specialist detects in his consultation a suspicious case, he goes to the hospitable coordinator, who will identify and define the risk of that patient. When it is over the statistic of the general population, candidate to the genetic advice will consider and he will derive it to the hospitable Unit from this one.
In order to be made tests the women which they can develop cancer of ovary, which they will do it of breast, and in front of youngest, the greater ones have preference as opposed to. Although if there were a man with breast cancer, this one would have preference. And if a genetic mutation is detected that it affects a family, all its members are studied.
Step 2: transfer of the patient to the Unit of Genetic Advice
Once the patient enters the program, an ample clinical history is made to him and personal, in which all the cancers are identified that her family has supported and their external factors of risk are evaluated. According to doctor Pedro Perez-Segura, commander of the Unit of Genetic Advice and Hereditary Cancer of the Clinical Hospital San Carlos of Madrid, the first time that a patient hears speak of a possible genetic mutation and that its identification she is going to allow to him that is dealed with a cancer 30 years before produces to him a met¡stasis “opens the world to him under the feet”, reason why advises to graduate the information that receives. “Each person can arrive at a point: there is one who she loves to immediately know it everything and that she prefers to know the things step by step”, she affirms. Its mission is to explain to the patient the medical and legal aspects of the genetic diagnosis that is going away to him to make, for that must give its signed consent. “All this, for these people, who are healthy, is difficult to include/understand, and usually creates anxiety, uncertainty and it makes them revivir the deaths of his relatives. But our mission, over everything, is to tranquilize them”, assures.
Step 3: psychological support
In parallel, it is come to the psychological evaluation of the patient: how it perceives the cancer, how it is going to influence his sexuality, how it sees his corporal image, what fault feeling shows by the possible transmission the children… Helena Olivera, clinical psychologist of the team of doctor Perez-Segura, smells if the patients perceive that the situation supposes a great risk to them and evaluates all the variables in the short and long term. “There are some who reviven situations of duel anchored in the subconscious mind; others consider that they will not be able to do nothing against the drama; and some, that hate the disease and the word ‘cancer’, need continued sessions to overcome the anxiety and the uncertainty before the genetic test “, explains the psicooncologa.
Step 4: accomplishment of the test
The great day arrives. A drop of blood is going to trigger all the process: the genetic study. With the results in the hand, the laboratories of Molecular Oncologia, like which it directs to Trinidad Caldes in the Clinical Hospital San Carlos of Madrid, exhaustive study the sequence of each gene Is a long process, of months, in which the patient feels defenseless. “With the genetic test we looked for biological markers that they determine the presence of a mutation in the predisposition genes, for example, in BRCA1 and BRCA2. All we have those two genes that, normally, help to come up that the cancerous tumors grow, although some times a person inherits a mutada form of those genes, that are going to trigger the cancer.” The mutations not only look for in those, “look for in all, but that phenomenon of the loss of the normal copy of the gene only is in a 20 percent of the examined patients. And to do it is all a satisfaction “, assures Caldes.
The long delay until knowing the results can become eternal, which forces the psychologists to work by piece to eliminate the anxiety and to increase the self-esteem of the patient. “If this one manages to be relieved and to be more containing emotionally, he will be more receptive with the doctors, which will facilitate its task”, it considers Helena Olivera.
Step 5: analysis of results and taking of measures
The awaited report arrives. The commander of the unit mentions the patient in consultation and she explains his case to him of individualized way, analyzing all the possible preventive measures. They appear hard terms, like ‘extirpacion’, that put to the patient against the cords, although knows that the success possibilities are of nine against one.
The analyses cannot say when it is going away to present/display the tumor, but which is the probability of suffering it. In patients with high risk of colon cancer, mortality, if the genetic study is made on time, is reduced in a 60 percent; and in the tumors of breast and ovaries related to gene BRCA1, between a 50 and 90 percent. They are encouraging numbers, but that they sound distant the day that are received the results. With these data, and after reflecting, the patient decides.
And there he is where the psychologists conduct battle again. “When the negative psychological impact of the intervention is seen that, for example of the mastectomia or the colestomia, very she is elevated, she is delayed the surgery until the anguish has been treated”, Olivera doctor explains, who derives these patients to particular sessions from psicoeducacion to improve her self-esteem.
Step 6: pursuit
After the opportune prophylactic measures, and even when still they are immersed in the process of you implant and partial fillings, the patients feel satisfied. Until they would recommend to that they are living the anxiety and the preoccupation that they have happened. But the process does not finish there. Twice to the year it touches revision and, after the analyses, the units of genetic advice contribute new detailed recommendations. And if it is necessary, the psychologists and the rest of professionals of the unit return to take part, because the treatment never is closed absolutely, although the risk has been overcome.
by Lola Fernandez