That Tumor you're Going to Get Tomorrow … maybe: Making an Informed Decision

Introduction

For some considerable time now it has been known that the concept of familiarity can represent an important risk factor in oncology given the fact that the presence of some types of tumors in a patient means an increased risk of developing the same type of illness for immediate family members during their lifetime. More recently, however, the discussion has centered on predictive medicine which is so closely correlated with genetics that we can now tranquilly talk about predictive genetics (1-4). This is now possible thanks to the enormous progress in molecular biology which has demonstrated the role of specific genetic mutations in the development of tumors. These investigations, carried out through DNA analysis, allow the identification of the presence of genetic mutations which determine a predisposition for the development of certain types of tumors and represent a greater risk compared with the general population. In an oncological setting, the assessment of risk factors has the objective of identifying the hereditary susceptibility in healthy individuals with the aim of using all means at our disposal to prevent the illness or at least to identify it at the earliest possible stage. These tests are called susceptibility tests because even though particular genotypes are identified, they are not able to establish a direct correlation between the presence of the mutation and the development of the illness but only a statistical probability of the development of a particular pathology in years to come.

Making an informed decision

The central issue is that patients can only reach an informed decision if they have all of the information regarding the legal, medical, social and ethical aspects of the step they are about to take, and this is where the physician's ability to communicate with the potential patient becomes paramount. Communication has a content and a relationship aspect. The relationship aspect is HOW it is communicated nonverbally, and the content is WHAT is actually said verbally. The relationship messages are always the most important elements in communication. Both the sender and the receiver of information interpret their own behavior during communication merely as a reaction to the other's behavior (5).

Today these concepts are more pertinent than ever, given that for some years now, in spite of the dominant and rampant use of technology, besides identifying the purely clinical needs of a patient, the doctor's attention focuses not only on communication and the doctor-patient relationship but also on social, ethical and spiritual aspects and on what can only be defined as the “biography” of the patient.

But what has been Western society's reaction to the use of genetic testing? The Convention on the Rights of Man and Biomedicine (The Oviedo Convention of April 1997, ratified in Italy in law number 145 on 28 March, 2001) analyzes the problem in detail (6).

Article 11 of the Convention prohibits any form of discrimination against an individual based on their genetic patrimony. Article 12 decrees that predictive tests for genetic illnesses must not be carried out with the objective of identifying an individual as a carrier of the risk factor except in the case of scientific or medical research and that any other use having different objectives from those cited above must be considered illegitimate. However, are we really sure that these rules are being adhered to, and if not, what can be done to make sure that informed consent from potential patients is not just a formal act of signing without understanding exactly what is at stake?

It is extremely clear that the people who drew up the convention were very concerned that this type of information, if acquired by unscrupulous individuals, could constitute a basis for racial discrimination in social and/or professional environments, based on genetics. Informed consent has a central role. It should be the final part of the dialogue between a genetics physician and the individual who is about to undergo specific genetic testing. The information supplied by the doctor prior to the test must be sufficient to allow the individual in question to be totally aware of the consequences of this decision and to express all eventual evaluations, doubts and concerns regarding the results. The individual's autonomy must be given absolute respect, and physicians must adapt their speech so that it is in line with the cultural level of the recipient of this information in order that it is clearly understood and that consent is based on exhaustive information and is totally free of any form of conditioning. Furthermore if, during the time between the test being carried out and the results being communicated, the individual in question changes their mind and wants to reverse the previous decision, then they have the right to refuse to know the test results and must not be subjected to any form of pressure to be informed of said results.

Facing the future

The uncertainties of predictive medicine are frustrating for both the physician and the potential patient, to the point where they can provoke reactions which are not easily predictable, and it may be legitimate, given the enormous progress in the therapeutic field, to ask ourselves if it is more difficult to accept a definite diagnosis, albeit a negative one, regarding one's state of health or the uncertainty caused by the risk of a hypothetical illness. Undoubtedly it is not easy to face the communication of an event which, for the moment, does not exist but which could present itself tomorrow or could forever remain a hypothesis which will never be realized. Even when results are communicated in the best, most sensitive way, the carrier perceives how his or her life has changed and how the future will never again reflect their expectations (7, 8).

The dominant culture in Western society, although substantially free from any kind of fundamentalism, involves an almost obsessive search for unquestionable certainties. The trust or, better, the daily demands made on the field of medicine do not take into consideration the limits this branch of knowledge inevitably possesses. Undeniably, the new horizons that predictive medicine presents through the possibility of obtaining information on our likely destiny is a fascinating field of study. Renato Dulbecco, joint Nobel Prize winner for physiology or medicine in 1975 and one of the fathers of the Human Genome project, said, with a little irony, “In the gene sequence of each of us we will be able to read our future” (9). The French philosopher Edgard Morin who was deeply involved in the study of genetics since his first stay at the Salk Institute in California at the end of the 1960s wrote widely on the existence and the vision of humanity in which the influence of the evaluation of genetics would be evident (10).

The Polish philosopher Zygmunt Bauman with his famous metaphors linked to the adjectives liquid and solid, majestically describes the state of uncertainty which oppresses society as a whole and also the single individual (11). Given these concepts and this elaboration of philosophical and scientific thought, how and where do we insert the contribution that genetics can offer to our knowledge in relation to the lives of each of us, to our search for certainty - but in a strictly medical environment? We should look to the existential philosopher Edmund Husserl who said that scientific progress which is not in line with an anthropological/philosophical vision reduces man to an object of study while pretending that he is the subject of science and the author of his own biography (12). It is therefore clear that it is necessary to promote an awareness that allows us to take decisions in conditions of inevitable uncertainty, with the adoption of a new ethic consisting of awareness and responsibility so that all scientific progress can also be defined as humane and ethical progress.