Whole genome sequencing followed by preimplantation genetic diagnosis. A translational approach to ethical issues

S. Hostiuc, D. Badiu, T. Hangan, M. Hostiuc, I. Rentea, A. Lungu, A. Vrapciu, I. Marcus, S. Vladareanu, D. Navolan, M.C. Rusu, I. Negoi

Abstract: Translational research is a recent concept, whose main aim is to categorize practical, outcome-oriented research. Preimplantation genetic diagnosis (PGD) is a diagnostic method used to determine the human genotype before implantation through artificial insemination. This method is very useful in identifying possible genetic syndromes in fetuses whose parents have a high risk for genetic diseases. There are numerous techniques for performing PGD, like quantitative polymerase chain reaction or array technologies (comparative genomic hybridization arrays or karyomapping), already used for detecting aneuploidy, unbalanced products of parental chromosome rearrangements, deletion or duplication of genetic materials, and so on. Whole genome sequencing could be used in the next years for PGD, as the technique has already become cost-efficient. However, the use of these techniques in clinical practice may pose a series of significant ethical issues. This article we will try to summarize a few ethical issues associated with whole genome sequencing associated with PGD, including positive eugenics, transfer of knowledge, teleology of the newborn baby or commercialization.
DOI:10.18643/gieu.2015.128

Keywords: whole genome sequencing, preimplantation genetic diagnosis, ethics, translational bioethics, positive eugenics.