Search for


TEXT SIZE

search for




CrossRef (0)
Feasibility of Single Nucleotide Polymorphism Markers in Domestic Direct-to-consumer Genetic Testing for Investigative Information
Biomed Sci Letters 2024;30:306-316
Published online December 31, 2024;  https://doi.org/10.15616/BSL.2024.30.4.306
© 2024 The Korean Society For Biomedical Laboratory Sciences.

Seyoung Nam1,*, Yukyoung Shin1,*, and Si-Keun Lim1,2,3,†,**

1Department of Forensic Sciences, Sungkyunkwan University, Suwon 16419, Korea
2ID-Cell Forensics Co., Sungkyunkwan University, Suwon 16419, Korea
3Convergence Bio Forensic Institute (CBFI), Biomedical Institute for Convergence at Sungkyunkwan University (BICS), Sungkyunkwan University, Suwon 16419, Korea
Correspondence to: †Si-Keun Lim
Department of Forensic Sciences, Sungkyunkwan University, 2066 Seobu-ro, Suwon 16419, Korea
Tel: +82-31-290-5670, Fax: +82-2-760-0920
E-mail: sikeun.lim@skku.edu
ORCID: https://orcid.org/0000-0003-4246-6223

*Graduate student, **Professor.
Received September 11, 2024; Revised December 13, 2024; Accepted December 17, 2024.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
 Abstract
Objectives: This study aims to investigate the potential applicability of single nucleotide polymorphism (SNP) markers used by domestic direct-to-consumer (DTC) genetic testing companies to forensic science.
Methods: Genetic tests were commissioned from four DTC companies in South Korea using a single donor sample.
Results were compared for concordance and evaluated for consistency with verified traits. Results: Among the 54 common traits analyzed by all four companies, only 6 traits (iron storage and concentration, omega-3 concentration, triglyceride levels, insomnia, sprinting ability, and grip strength) showed consistent results, with a concordance rate of only 11.11%. Pairwise comparisons between companies also revealed low concordance rates, ranging from a minimum of 31.43% to a maximum of 46.58%, with no pair exceeding 50% concordance. Additionally, among the 18 traits for which the actual characteristics of the donor could be verified, only one trait showed consistent results across all four companies, with Company A matching 9 traits, Company C matching 7 traits, and Companies B and D each matching 5 traits to the actual characteristics.
Conclusion: These results are presumed to be due to differences in the types of SNP markers analyzed and the databases maintained by each company, suggesting that estimating individual characteristics based on SNP marker analysis can be influenced by various factors. Given that the process of suspect identification in forensic science requires higher accuracy, it appears challenging to directly apply this information to forensic science. Therefore, further validation of each analysis trait and the associated SNP markers is necessary.
Keywords : Forensic sciences, Forensic genetics, Phenotype, Genetic testing, Polymorphism, Single nucleotide, Genotype