Этические проблемы геномного скрининга: обзор литературы

Whole-genome and whole-exome sequencing have universally recognized clinical importance for the diagnosis of orphan diseases. Due to the development of sequencing technology and the subsequent reduction in diagnostic costs, these methods are increasingly used not only for clinical purposes, but also as a screening tool in healthy individuals. The study for suspected genetic disease in the family or testing a healthy person «optional» can be revealed «incidental findings» with different clinical significance. However, a number of professional guidelines recommend a systematic search for clinically significant secondary results - the so-called opportunistic screening. Accordingly, the ethical problems of opportunistic screening actively discussed, particularly in the context of the proportionality of the benefits and risks for the tested person, informed consent and the protection of autonomy and justice. Ethical problems of genetic counseling in modern economic and technical aspects in the Russian Federation have been little studied. This review article describes the problems mentioned, provides international experience and recommendations for solving the aforementioned problems.