How can genetics help predict disease

Ethical aspects

III. Ethical aspects

Performing a predictive genetic test can be very helpful. For example, if in this way the disposition for a treatable disease can be identified at an early stage. Pharmacogenetic tests (see module Pharmacogenetic test) can also open up opportunities. If the genetically determined sensitivity to certain active pharmaceutical ingredients is identified, an individually tailored drug dosage and selection is possible. Predictive genetic test procedures are not only associated with opportunities, but also with risks. The identification of these risks is of central importance for an ethical evaluation of predictive genetic tests. In the ethical discussion about predictive genetic tests, the following risks in particular are mentioned.

Violation of the right to informational self-determination

Genetic data can affect core areas of the personality. It can therefore be considered generally accepted that with a view to one's own genetic constitution, each individual has both a “right to know” and a “right not to know” (see module right to not know). Both are often addressed together under the term “informational self-determination”. Problems arise when one person's right not to know clashes with another person's right to know. For example, with test results that also include statements about the genetic constitution of biological relatives or with the evaluation of personal genetic data in so-called human biobanks for research purposes (see module human biobanks for research purposes).

Intra-family conflicts

Genetic data always contain information about the biological relatives of a tested person. This fact can lead to special, intra-family conflict situations. If a person tests positive, this test result can be used to make a statement about the genetic constitution of a biological relative. For example, if someone with a grandparent suffering from Huntington's disease tests positive for the relevant genetic change, it is certain that the parent in question is also the carrier of this genetic change. The right to know of the tested persons can thus collide with the right not to know of a biological relative.

Psychological stress from positive test results

If a predictive genetic test is used to determine that a person has a hereditary disease, this can lead to considerable psychological stress for the person concerned. Such burdens can be exacerbated by the complexity associated with genetic test results: The question of an appropriate approach is difficult, especially if a disease has only a low penetrance or a highly variable expressivity (see module penetrance / expressivity). However, new research suggests in this regard that the possibility of changing one's own behavior with the help of predictive research results is not used by many people. Even if this does not necessarily say anything about the psychological status of the 'affected' persons, the low impact of the test results (see module Impact of test results) should nevertheless give cause for concern as to whether the argument of psychological stress due to positive test results is appropriate in the case of predictive methods is.

Danger of “geneticization” of the lifeworld

“Geneticization” is generally understood to mean a process in which differences between individuals are reduced to their DNA, i.e. diseases and behavior are increasingly understood as genetically determined in the course of geneticization. Geneticization poses a problem when it ends in a genetic determinism, which states that humans can be completely determined by their genes.

Genetic Discrimination

The term “discrimination” means a disadvantageous treatment of people on the basis of characteristics that are “irrelevant for the given situation”. In connection with predictive genetic testing, there is a risk that a person who tests positive will be regarded as a “healthy patient”, which can lead to social disadvantages within society. Although there are no symptoms, those affected are often perceived as sick and treated accordingly. This form of “genetic discrimination” can be particularly problematic with regard to insurance and employment relationships.

There is broad consensus that predictive genetic testing is associated with both opportunities and risks from an ethical perspective. In the ethical discussion, therefore, it is not least a question of analyzing regulatory models to determine whether they are suitable for minimizing the risks associated with predictive genetic tests without at the same time restricting the opportunities these tests open up. Above all, four ideal-typical regulation models can be distinguished in the debate:

Control models

1. Admission procedure

The approval process (see module regulatory model approval process) is a regulatory model which states that, in view of the risk potentials outlined, it is necessary to set quality standards for predictive genetic tests. Individuals can only really exercise their right to informational self-determination and decide for or against an examination if it is ensured that a test provides a reliable information base. Approval procedures could be used not only for tests themselves, but also for the laboratories that evaluate tests and also for those who convey test results. There is now widespread agreement that approval procedures in connection with predictive genetic tests make sense. However, it continues to be discussed on the one hand whether the requirement for approval should apply to all tests or only for those whose results can lead to severe psychological stress, and on the other hand whether and how this model must be supplemented by other regulatory models.

2. Anti-Discrimination Regulations

An anti-discrimination regulation (see module regulation model anti-discrimination regulation) as a regulation model for predictive genetic tests was proposed by those who believe that the test application itself should not be the focus of a regulation, but rather the use of genetic data. Proponents of this model argue that there is a risk situation that needs to be regulated only if genetic differences are made the basis of social exclusion. Critics, on the other hand, object that the concept of genetic discrimination is difficult to define and should therefore not be made the basis of a regulation. In addition, such a model would not capture all of the dangers associated with genetic testing.

3. Doctor's reservation

Another regulatory model, the doctor's reservation (see module doctor's reservation), stipulates that all or at least some predictive genetic tests may only be carried out by doctors or possibly even only by specialists in human genetics. Proponents of this model want to counter the commercialization of genetic tests, for example the marketing of direct-to-consumer genetic tests on the Internet (see module Direct-to-consumer genetic tests) and the associated consequences. They point out that it is only through the competence of the doctor that it can be guaranteed that appropriate advice will be given before a possible test and that the test results will be interpreted correctly. Medical confidentiality also guarantees that genetic data are not passed on - data protection can therefore be secured by the doctor's reservation.
Problems arise, however, when it comes to performing non-disease-related tests. If doctors had to be called in for this type of genetic examination, they would play the role of general life coach, which shouldn't be their job.

4. Linkage to health purposes

The Convention on Human Rights and Biomedicine of the Council of Europe contains a much discussed regulatory model, linkage to health purposes (see module Regulatory model linkage to health purposes). Article 12 states:

"Studies that make it possible to predict genetic diseases or to determine whether a person has a gene responsible for a disease or to identify a genetic predisposition or susceptibility to a disease may only be used for health purposes or health-related scientific research and only under the Prerequisite for adequate genetic counseling. "
By restricting genetic tests to health purposes, the Council of Europe tries to ward off unjustified third-party interests in genetic data, such as those that employers or insurers may have. For example, only a direct medical benefit can be used to justify carrying out a predictive genetic test. Critics doubt, however, that the concept of health purposes can be defined with sufficient precision. If this is not the case, then such a regulatory approach threatens to become blurred.