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Updated: Jun 10, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Techno-ethical concerns related to genetic sequencing reports
Zeki Topcu1, Sevil Zencir2, Matthis Krischel3
1Department of Pharmaceutical Biotechnology, Faculty of Pharmacy, Ege University, 35100, Izmir, Turkey.
Abstract:
Recombinant DNA technologies of the current era, most of which are comparable to past works of science fiction, have had diverse and significant impacts on social life. Among them, genetic sequencing deserves particular attention. The widespread use of genetic testing has raised numerous concerns regarding autonomy, confidentiality and privacy. In this context, the proliferation of 'gene for X' reports influences debates about the potentially beneficial or detrimental uses of genetics. While several studies have reported concerns related to the collection, storage and use of genetic data, few have considered the technical shortcomings that can affect the reliability of interpretation of sequencing data. In this essay, we will cover some of the current practices of genetic testing and safety aspects of DNA data. To evaluate the reliability of DNA data we will raise the question whether an 'overestimation' of researchers' results might reflect an 'underestimation' of our genetic make-up in terms of the limitations of the parameters necessary for the correct interpretation of genomic DNA. Following that question we will highlight the responsibility of researchers for proper science communication to avoid misleading information about genetic sequencing data.
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