Abstract
Preconception genetic testing for carriage of recessive mutations is an important genetic test that allows for better planning of the method of conception (natural or IVF), the course of pregnancy, and the need for additional screening of the developing fetus. Despite the obvious benefits that ECS brings to public health, uncertainty about issues and concepts such as determining disease severity, the social consequences of routine screening, and target setting create ethical controversies in defining conditions appropriate for inclusion in a screening panel. The development of a large-scale screening program exacerbates uncertainties and requires methodological elaboration. The author identifies and reviews problem areas of pre-conceptual genetic carrier testing not from the side of ethical implications, specific (or perceived) cases, but looks for their source in the underdevelopment of basic concepts and intuitions in assessing the severity of genetic disease. Analytical and empirical tools in this situation appear to be insufficient. The author concludes that a satisfactory consensus can be reached only with the participation of socio-humanitarian scientists in its development, including epistemological, existential, sociological and other humanitarian dimensions in the analysis. Sociohumanitarian expertise is a necessary element for finding a systematic solution for pre-conceptual genetic screening programs.
Published Version
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