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.
authors.affiliation: Health and Biomedical Informatics Centre, The University of Melbourne, Melbourne, Australia.
authors.forename: Alexander J
authors.initials: AJ
authors.lastname: Koutsoukis
authors.affiliation: Health and Biomedical Informatics Centre, The University of Melbourne, Melbourne, Australia.
authors.forename: Guillermo H
authors.initials: GH
authors.lastname: Lopez-Campos
authors.affiliation: Health and Biomedical Informatics Centre, The University of Melbourne, Melbourne, Australia.
authors.forename: Fernando
authors.initials: F
authors.lastname: Martin-Sanchez
mesh_terms: D002874:Chromosome Mapping / Q000379:methods*; D004252:DNA Mutational Analysis / Q000379:methods*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D057285:Precision Medicine / Q000379:methods*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity