Merging personalized and participatory medicine: Interpretation of individual genomes

Alexander J. Koutsoukis*, Guillermo H. Lopez-Campos, Fernando J Martin-Sanchez

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingConference contribution

1 Citation (Scopus)

Abstract

Interpretation-only providers are becoming increasingly prominent in the field of Direct-To-Consumer genomics. We examined the information obtained from two different providers (Interpretome and Promethease) when analysing the same personal genome. We found large discrepancies between the results from these services for the list of SNPs included in the analysis, but a high level of concordance in their interpretation when the SNPs were coincident.

Original languageEnglish
Title of host publicationIntegrating Information Technology and Management for Quality of Care
PublisherIOS Press
Pages24-27
Number of pages4
Volume202
ISBN (Print)9781614994220
DOIs
Publication statusPublished - 2014
Externally publishedYes
Event12th International Conference on Informatics, Management, and Technology in Healthcare, ICIMTH 2014 - Athens, Greece
Duration: 10 Jul 201413 Jul 2014

Conference

Conference12th International Conference on Informatics, Management, and Technology in Healthcare, ICIMTH 2014
CountryGreece
CityAthens
Period10/07/201413/07/2014

Keywords

  • Clinical genomics
  • Direct-To-Consumer
  • Interpretation
  • Personal genomics

ASJC Scopus subject areas

  • Biomedical Engineering
  • Health Informatics
  • Health Information Management

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  • Cite this

    Koutsoukis, A. J., Lopez-Campos, G. H., & Martin-Sanchez, F. J. (2014). Merging personalized and participatory medicine: Interpretation of individual genomes. In Integrating Information Technology and Management for Quality of Care (Vol. 202, pp. 24-27). IOS Press. https://doi.org/10.3233/978-1-61499-423-7-24