Crowdsourced direct-to-consumer genomic analysis of a family quartet

BMC Genomics. 2015 Nov 7;16:910. doi: 10.1186/s12864-015-1973-7.

Abstract

Background: We describe the pioneering experience of a Spanish family pursuing the goal of understanding their own personal genetic data to the fullest possible extent using Direct to Consumer (DTC) tests. With full informed consent from the Corpas family, all genotype, exome and metagenome data from members of this family, are publicly available under a public domain Creative Commons 0 (CC0) license waiver. All scientists or companies analysing these data ("the Corpasome") were invited to return results to the family.

Methods: We released 5 genotypes, 4 exomes, 1 metagenome from the Corpas family via a blog and figshare under a public domain license, inviting scientists to join the crowdsourcing efforts to analyse the genomes in return for coauthorship or acknowldgement in derived papers. Resulting analysis data were compiled via social media and direct email.

Results: Here we present the results of our investigations, combining the crowdsourced contributions and our own efforts. Four companies offering annotations for genomic variants were applied to four family exomes: BIOBASE, Ingenuity, Diploid, and GeneTalk. Starting from a common VCF file and after selecting for significant results from company reports, we find no overlap among described annotations. We additionally report on a gut microbiome analysis of a member of the Corpas family.

Conclusions: This study presents an analysis of a diverse set of tools and methods offered by four DTC companies. The striking discordance of the results mirrors previous findings with respect to DTC analysis of SNP chip data, and highlights the difficulties of using DTC data for preventive medical care. To our knowledge, the data and analysis results from our crowdsourced study represent the most comprehensive exome and analysis for a family quartet using solely DTC data generation to date.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Crowdsourcing* / methods
  • Exome
  • Family*
  • Female
  • Gene Frequency
  • Genetic Testing* / methods
  • Genomics* / methods
  • Genotype
  • Humans
  • Male
  • Metagenome
  • Pedigree
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Precision Medicine / methods
  • Quantitative Trait, Heritable
  • Spain