• There are no provisions of genetic services in law at present, but specific governmental guidelines on medical genetics were approved in 2004 (Linee-guida per le attività di genetica medica G.U. n. 224 - 23/9/2004) that contain provisions that regulate genetic services in Italy.
• The Code of Medical Ethics also contains several provisions regarding genetic testing.
• Allowed Purposes - According to article 12 of the Convention of Human Rights and Biomedicine, predictive genetic tests may be performed only for health purposes or for scientific research linked to health purposes. Every other use, for other purposes than the last ones, should not be considered legitimate.
• Predictive genetic tests - According to the Code of Medical Ethics genetic tests are not acceptable if they are not directed in an exclusive way to discover or predict malformations or hereditary diseases and if they are not explicitly requested, in written form, by a person or by the mother of a fetus. They have rights to receive the preliminary information and to the widest and objective counseling on the meaning, the results, the risks for the pregnancy, the expected consequences for health and quality of life and the possible preventive and therapeutic interventions. The physician should not perform predictive genetic tests for purposes of insurance or occupation, if they are not the result of the explicit and informed wish of an interested person.
• Informed consent - The signing of the informed consent is the ultimate stage of the communicative process.
  • It is necessary that the informed consent concludes a dialogue in which the person receives from the geneticist, who manages the test, complete and accurate information about all potential implications of a test result.
  • The informed consent for genetic tests implies the capacity to carry the responsibility of a decision, and therefore requires from the person involved maturity and decisional capacity. The person who needs of the test, or its relatives, should not be influenced in any way to take a specific decision. The respect of the autonomy of the subject should be absolute. This implies the necessity to posses updated and exhaustive information and of being free from external constrictions. The person to which a genetic test is offered should know that his acceptance should be voluntary, and, whatever his decision, it will not been taken into discussion his right to be assisted in the best possible way.
  • Who manages a test has the obligation to stimulate a free decision of the subject and to inform him of his full authority to decide in other way. The persons should be conscious that a positive test result might have implications for actual and future children and for family members. Pre-symptomatic genetic tests can be performed on healthy minors at risk of genetic pathologies, after informed consent of the parents or the legal guardian and only in cases in which there are concrete therapeutic or effective preventive measures before the age of majority.
  • Regarding pre-symptomatic genetic tests for diseases that have their onset in adulthood, it is recommended to postpone the analysis until the subject has reached the age of majority, and consequently, the ability to decide in full autonomy. For susceptibility tests, the conversation should be focused on correct and broad information about the actual knowledge, about the limits and potentialities of predictive medicine. The performance of a susceptibility test should be limited to persons who have reached majority, who are able to self-determination. The persons who undergo pharmacogenetic tests should be adequately informed and should preliminarily underwrite the informed consent.
  • The informed consent to genetic tests implies the ability to take the responsibility for a decision and therefore demands, from person involved, maturity and decisional capacity. This condition becomes particularly critical in performing genetic tests on minors, in particular for the pre-symptomatic tests related to diseases that have their onset in adulthood. For these tests it is recommended to postpone the analysis until the subject has reached majority and, as a consequence, the ability to decide in full autonomy. The problem receives a particular relevance when a test result does not permit to carry out an efficient preventive measure or does not help to enhance the health of the minor. Parents who ask to perform genetic tests in these cases don’t have as goal the health of their child. Even admitting their request might be bona fide, they would not be the best interpreters of the psycho-social wellbeing of their children in these cases. The pre-symptomatic genetic tests can be carried out on minors, that are not affect but at risk of genetic pathologies, after informed consent of the parents or the legal guardian. Only in the case of concrete possibilities of therapy or effective preventive measures before the age of majority. This recommendation is justified by various considerations: on one side, the violation of the right of the minor to decide (once reached adulthood) to perform or not a genetic test, and on the other side, the violation of the right to confidentiality of the result. To these ethical considerations, psychological considerations can be added. For example, the potential damage that the test result, certainly in the case of a negative result, can cause on the self-esteem of the minor; the altered relationship between parents and child: if a child will become ill, the parents might be become hyper protective or discriminative; discrimination at school or at the level of educational investments; consequences for the future employment career and for the capacity to build stable and meaningful relations.
• Genetic counselling - The use of genetic tests without adequate counseling and support to the person should be avoided. The communication and the interpretation of a test result, as well as the counseling regarding the potential implications, should be considered integral parts of a genetic test. It is necessary that the informed consent concludes a dialogue in which the person receives from the geneticist, who manages the test, complete and accurate information about all potential implications of a test result.
  • The information on the genetic test and its implications and the counseling process should be formulated in a language adapted to the level of comprehension and culture of these persons.
  • The information, supplied before the test, should offer to the interested the possibility to understand what is communicated and to express their own appraisal and their worries related to the various aspects of a test.
  • The information on the advantages and the disadvantages of a test should be presented in a complete, objective and non-directive objective way. Who offers the test, but has difficulties to discuss in an exhaustive and objective way the test, because he is not sufficiently convinced of the importance of the counselling process, or because he is not sufficiently informed about the test, or because of the lack of time, should refer the person to somebody who is able to satisfy this requirement in an adequate way.
  • Everyone who participates in a genetic test, after informed consent, should be free to not know the result, even if the test has already been performed (art 10, 2 Convention). In the time interval between the decision to perform a genetic test and the communication of the result of a genetic test, events or reflections may lead a person to rethink his own decision. In this case, no pressure should be used to communicate the result of the test to the person.
  • The direct communication with the genetic counselor is important for those who cannot read and are therefore not able to use written materials. Eventually other means of communication, that might give additional information to written materials, could be used to strengthen the understanding of the discussed problems. (e.g. audiovisual materials).
  • For deaf persons, an interpreter should be present, and it is also useful to use written or audiovisual materials. In the case of persons that have difficulties to understand Italian, an interpreter should be used. Particular attention should be devoted to the cultural context from which the subject comes, especially if he belongs to an ethnic group, in order to adapt to his level of understanding and his value system.
  • The usefulness of a genetic test cannot therefore be assessed only with a criterion of medical implications, but wider implications should be considered that involve other aspects of human life. The person who is offered a genetic test, should receive complete information about the technical aspects, objectives, eventual treatments or interventions that might be useful in relation to the test result. He should be informed about the advantages that can be derived from it and the risks to which they may lead, in order to mature automatically the wish of the subject.
  • The knowledge of the sensitivity and of the predictive value of the test allows the subject to assess better the differences in risk regarding the disease that may derive from the test result.
  • The person should be informed: of the modalities and the time schedule of the realization of the test and the communication of the result; and of the implications of the possible results; in the case of prenatal diagnosis it is necessary to take into account the affective relation between the mother and the fetus and of the particular ethical, emotional and psychological implications, and the various interpretations in the various stages of the pregnancy; the use of invasive techniques to take fetal tissue necessitates rigorous and exhaustive information about the operation and the risks deriving from this application; systems that protect the privacy of results and that regulates who has access to this information; the place and the duration the tissue will be conserved and if it might be used for other purposes: who has access to the tissue and for what purposes; the right of the subject to limit the access to the result and the access to the tissue for other purposes.
  • All these aspects should be discussed with the interested persons, supplying the necessary information and favoring the decisional autonomy.
  • Pre-conception and pre-natal tests - In the case of tests that might influence reproductive decisions, complete information and a non-directive counselling is necessary, in order to guarantee the respect of the values and the convictions of the individual or the couple. Although screening tests on the maternal blood (e.g. triple-tests) do not include risks for the mother, a result that shows an increase of the risk of fetal pathology would involve the decision to perform a prenatal diagnosis by means of invasive techniques. The woman who takes in consideration this type of test should receive in advance complete information and should know the implications of the various results and their reliability, including the risk of false-positive or false-negative results. Tests for the identification of healthy carriers have fallen back on children already born and future children. These tests ask that the person concerned should be informed of the eventual reproductive risks and of the available options. The short term risks of the identification of healthy carriers are primarily psychological, in terms of anxiety or decreasing of self-esteem, in case of a positive result. Before a test it is necessary to inform in a non-directive way of the short-term and long-term implications, and to evaluate the strategies that can be used to avoid the conception or the birth of an ill child. The request, from parents, to perform a genetic test on a fetus with the aim to assess a certain condition that is not specifically connected to the diagnosis of a disease (e.g., sex, paternity, etc.) should not be performed. Particular situations should be assessed carefully.
• Protection of genetic data - The Personal Data Protection Code of 2003 contains several provisions with regard to the processing of genetic data.
  • Processing of genetic data, regardless of the entity processing them, shall be allowed exclusively in the cases provided for in ad-hoc authorizations granted by the Garante, after having consulted with the Minister for Health who shall seek, to that end, the opinion of the Higher Health Care Council.
  • The results of a genetic test can eventually be communicated to other members of the family, if they are considered at risk, because the genome connects the generations and is shared information. Obviously caution should be used and everything possible should be done in order to avoid familial contrasts and in comprehensions. It is necessary, in particular, to obtain the consent of the involved person to communicate this information, as this has been stated in article 5 of the Convention for Human rights and Biomedicine. Moreover, it should be defined with precision the relationship within to carry out this communication (eventually only within the third degree).
• Genetic discrimination – According to the Italian Constitution all citizens have the same social dignity and the law is equal for all citizens, regardless of sex, race, language, cult, politic opinion, personal and social position. Moreover, also the Code of Medical Ethics stipulates that the duty of the physician is the protection of life, of the physical and psychological health of the individual and the relief of suffering with respect for the freedom and dignity of the human being, without any discrimination based on age, sex, race, religion, nationality, social condition, and ideology; in times of peace and war; whatever the social and institutional context the physician is working in.

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