Ethical issues in (pharmaco)genetics

Abstract

Apart from genetic testing for diagnostic purposes, application of genetics in human medicine encompasses genetic interventions and pharmacogenetical testing which are becoming more frequently utilized in clinical practice, as well as genetic studies employed in the process of research and drug development. It’s been widely known and accepted that application of a drug in equal dosing regimens for treatment of the same diagnosis in different patients, doesn’t produce equal results regarding achievement of a therapeutic effect and/or occurrence of side effects. Investigating the genetic cause for interindividual variations in patients’ drug response and toxicity, pharmacogenetics holds valuable prognostic and predictive value in tailoring the pharmacological treatment of various diseases according to the principles of precision medicine. But, just as any other medical testing, genetic analyses impose ethical risks which in this case are even more serious due to the following specific features of these tests and the obtained data: the “mutual” ownership of the genetic information by individuals from the same family, the lack of precise phenotype-genotype correlation and the influence of epigenetic and environmental factors on the phenotypic expression of genetic information, the balance between the right of an individual “to know” and the right “to not know” as well as the enormous potential for discrimination. The rapid advancement of high throughput technologies delivering a mass of detailed data on an individual’s genome introduces a lot of advantages in scientific and clinical applications, but also threatens with a tremendous risk for misuse of these data in various settings. The lecture discusses the fundamental ethical principles applicable to genetic analyses/studies including respect of the individual’s autonomy and privacy and commitment to providing confidentiality, beneficence and justice. The informed consent as well as the levels of anonymization in genetic testing as measures to satisfy the above mentioned principles will be addressed. Special emphasis will be placed on the ethical issues regarding orphan and rescued drugs emerging in the pharmacogenetical testing within clinical studies in drug research and development. Philosophers of science claim that science is morally neutral, it is actually the use and implementation of science that can have positive or negative impact. Hence, it is crucial to understand that achievement of our aim for humane application of (pharmaco)genetics can only be accomplished if technological and clinical advances in this field advance at a similar rate with the corresponding ethical considerations.