Merging personalized and participatory medicine: Interpretation of individual genomes

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

doi:10.3233/978-1-61499-423-7-24

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 proceeding › Conference 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 language	English
Title of host publication	Integrating Information Technology and Management for Quality of Care
Publisher	IOS Press
Pages	24-27
Number of pages	4
Volume	202
ISBN (Print)	9781614994220
DOIs	https://doi.org/10.3233/978-1-61499-423-7-24
Publication status	Published - 2014
Externally published	Yes
Event	12th International Conference on Informatics, Management, and Technology in Healthcare, ICIMTH 2014 - Athens, Greece Duration: 10 Jul 2014 → 13 Jul 2014

Conference

Conference	12th International Conference on Informatics, Management, and Technology in Healthcare, ICIMTH 2014
Country/Territory	Greece
City	Athens
Period	10/07/2014 → 13/07/2014

Keywords

Clinical genomics
Direct-To-Consumer
Interpretation
Personal genomics

ASJC Scopus subject areas

Biomedical Engineering
Health Informatics
Health Information Management

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10.3233/978-1-61499-423-7-24

Cite this

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title = "Merging personalized and participatory medicine: Interpretation of individual genomes",

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.",

keywords = "Clinical genomics, Direct-To-Consumer, Interpretation, Personal genomics",

author = "Koutsoukis, \{Alexander J.\} and Lopez-Campos, \{Guillermo H.\} and Martin-Sanchez, \{Fernando J\}",

year = "2014",

doi = "10.3233/978-1-61499-423-7-24",

language = "English",

isbn = "9781614994220",

volume = "202",

pages = "24--27",

booktitle = "Integrating Information Technology and Management for Quality of Care",

publisher = "IOS Press",

address = "Netherlands",

note = "12th International Conference on Informatics, Management, and Technology in Healthcare, ICIMTH 2014 ; Conference date: 10-07-2014 Through 13-07-2014",

}

Koutsoukis, AJ, Lopez-Campos, GH & Martin-Sanchez, FJ 2014, Merging personalized and participatory medicine: Interpretation of individual genomes. in Integrating Information Technology and Management for Quality of Care. vol. 202, IOS Press, pp. 24-27, 12th International Conference on Informatics, Management, and Technology in Healthcare, ICIMTH 2014, Athens, Greece, 10/07/2014. https://doi.org/10.3233/978-1-61499-423-7-24

TY - GEN

T1 - Merging personalized and participatory medicine

T2 - 12th International Conference on Informatics, Management, and Technology in Healthcare, ICIMTH 2014

AU - Koutsoukis, Alexander J.

AU - Lopez-Campos, Guillermo H.

AU - Martin-Sanchez, Fernando J

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

KW - Clinical genomics

KW - Direct-To-Consumer

KW - Interpretation

KW - Personal genomics

UR - https://www.scopus.com/pages/publications/84904213019

U2 - 10.3233/978-1-61499-423-7-24

DO - 10.3233/978-1-61499-423-7-24

M3 - Conference contribution

AN - SCOPUS:84904213019

SN - 9781614994220

VL - 202

SP - 24

EP - 27

BT - Integrating Information Technology and Management for Quality of Care

PB - IOS Press

Y2 - 10 July 2014 through 13 July 2014

ER -

Merging personalized and participatory medicine: Interpretation of individual genomes

Abstract

Conference

Keywords

ASJC Scopus subject areas

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