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

Area of Science:

• Genomics
• Personalized Medicine
• Bioinformatics

Background:

• A Spanish family (Corpas) shared their genotype, exome, and metagenome data publicly.
• Data was released under a Creative Commons 0 license to encourage crowdsourced analysis.
• The family aimed to maximize understanding of their personal genetic information using Direct to Consumer (DTC) tests.

Purpose of the Study:

• To evaluate the utility of DTC genetic testing for personal data interpretation.
• To assess the consistency of variant annotation across multiple DTC companies.
• To explore the potential of crowdsourcing in genomic data analysis.

Main Methods:

• Four members of the Corpas family underwent DTC genetic testing (5 genotypes, 4 exomes, 1 metagenome).
• Publicly available data was analyzed by crowdsourced efforts and the study authors.
• Four commercial DTC companies (BIOBASE, Ingenuity, Diploid, GeneTalk) were used for variant annotation.

Main Results:

• Analysis of four family exomes using four DTC companies showed no overlap in reported variant annotations.
• Crowdsourced analysis and author efforts were combined to interpret the genomic data.
• A gut microbiome analysis was also performed on a family member.

Conclusions:

• Significant discordance among DTC genetic data analysis tools was observed.
• The findings underscore the difficulties in applying DTC genetic data for preventive healthcare.
• This crowdsourced study represents a comprehensive analysis of DTC exome data for a family quartet.