Rapid detection of single nucleotide polymorphisms using the MinION nanopore sequencer: a feasibility study for perioperative precision medicine

Abstract

Introduction: Precision medicine is a phrase used to describe personalized medical care tailored to specific patients based on their clinical presentation and genetic makeup. However, despite the fact that several single nucleotide polymorphisms (SNPs) have been reported to be associated with increased susceptibility to particular anesthetic agents and the occurrence of perioperative complications, genomic profiling and thus precision medicine has not been widely applied in perioperative management. Methods: We validated six SNP loci known to affect perioperative outcomes in Japanese patients using genomic DNA from saliva specimens and nanopore sequencing of each SNP loci to facilitate allele frequency calculations and then compared the nanopore results to those produced using the conventional dideoxy sequencing method. Results: Nanopore sequencing reads clustered into the expected genotypes in both homozygous and heterozygous cases. In addition, the nanopore sequencing results were consistent with those obtained using conventional dideoxy sequencing and the workflow provided reliable allele frequency estimation, with a total analysis time of less than 4 h. Conclusion: Thus, our results suggest that nanopore sequencing may be a promising and versatile tool for SNP genotyping, allowing for rapid and feasible risk prediction of perioperative outcomes.

Competing Interest Statement

The authors have declared no competing interest.

Funding Statement

This work was supported by the branding program as a world-leading research university on intractable immune and allergic diseases supported by the Ministry of Education, Culture, Sports, Science and Technology of Japan, a research grant from the Kansai Medical University (KMU) research consortium to KH and YM, and research grant E from Kansai Medical University to YT. These funding bodies had no role in the design of the study, collection, analysis, interpretation of the data, or manuscript preparation.

Author Declarations

I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.

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The details of the IRB/oversight body that provided approval or exemption for the research described are given below:

This study was approved by the Institutional Review Board at Kansai Medical University Hospital (No. 2020285, February 19, 2021).

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Yes

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Data Availability

The data used in this study is available from the corresponding author upon reasonable request.

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