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Genetic analysis in clinical practice

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By 1990, from the beginning of the Human Genome Project, we became aware of the impact of the discoveries that were then intuited and realized that they would directly influence the lives of citizens in the future. At the same time, the need to involve society in this great task and to trust its enormous benefit was considered an indispensable condition for its success. As a result of this reflection, five percent of the budget was allocated to a program called ELSI (Ethical, Legal and Social Issues) for the analysis of the ethical, legal and social implications of the project, something unprecedented in a project of this magnitude.

The clinical application of genetic knowledge is the challenge facing medicine today, that is, its application to patients and users of the national health system. In fact, a profound change has begun, and we have already begun to see it, in the way of understanding diagnosis and treatment: moving from a palliative medicine designed for the entire population to a personalized preventive medicine that takes into account its individual characteristics.

This evolution involves the investigation of these particular characteristics of individual DNA that determine the appearance or non-occurrence of diseases, their appearance or their reaction to a drug. Genetic analysis is becoming faster and simpler from an economic point of view and the interpretation of the results is increasingly useful. Therefore, the Autonomous Communities with relevant entities are already developing or implementing diagnostic programs and centers in their respective territories.

In this way, it has begun to collect and store information about individual health, as usual in the health system, but with specific characteristics. It should be noted, for example, that information is received from an individual, but that it is both hereditary and therefore has important implications for his family members. In addition, it allows diagnosing people without symptoms, that is, healthy people.

Such has been the importance of the ethical and legal implications that this information may entail, since numerous guidelines, reflections and norms have been written that refer to this subject. A paradigmatic example of this is the 2003 UNESCO International Declaration on Human Genetic Data.

In 2007, Law 14/2007 of 4 July on Biomedical Research (VOL) was published in Spain, which devotes a chapter to genetic analysis and personal treatment of genetic data. It is a norm to be developed and applied by the Autonomous Communities, taking into account their competences in health matters.

The LIBURU Act has defined and developed a "bill of rights" applicable to personalized medicine, collecting and adapting some of the most general rules on patient rights, such as the authorization regime, respect for privacy and data protection, the right not to know or the right not to be discriminated against.

Thus, when seeking to obtain genetic information for diagnostic or treatment purposes, patients should be informed of the meaning of the analysis and its importance to them and their families, giving their express written consent for the analysis and storage of the data. Transmit information properly, in understandable terms and ensure that they understand it.

All information received -- as with the rest of the information preserved in clinical history -- is confidential and professionals are obliged to keep it secret: it cannot be communicated to the patient's family, nor can it be transferred for non-medical purposes without the consent of the subject. The patient will decide in which cases a mutation has been detected between son, brother, father, etc., which may be affected by this mutation and whether he will communicate it himself or involve health professionals. Under this duty of confidentiality, information will not be transmitted to other entities that may be interested in it, such as insurers. In this sense, the VI expressly prohibits discrimination on the basis of genetic heritage, and this prohibition is also included in the Charter of Fundamental Rights of the European Union.

It also provides for the right to "good genetic advice", according to which the whole process of genetic analysis must be offered in quality conditions, both in terms of the resources used and the professionals involved. These professionals must have the necessary knowledge to know whether to conduct an analysis and where and how to do it. In addition, they must have knowledge of interpretation and transmission to the patient of the results, so that the patient understands the meaning of the results, the possibilities of error, the measures that can be taken from there and its importance to him and his associates in the future life. The patient, based on this knowledge, will make the appropriate decisions.

In short, in order to achieve a more appropriate and personalized prevention or therapies, the possibilities offered by genetic diagnosis for citizens have reinforced the rights of patients and have provided new demands for professionals and health centers, who will have to work on aspects such as training, the necessary infrastructures, the proper organization and the awareness of the specific norms that must be applied.