The All of Us Research Program has met nearly 5 percent of its 1 million-participant goal — a sufficient amount for testing pipelines, evaluating data types and assessing return-of-information strategies, the program's Advisory Panel's Genomics Working Group wrote in its December report.
The All of Us Research Program, which is part of the National Institutes of Health's precision medicine initiative, aims to engage more than 1 million participants to share biological samples, genetic data and lifestyle information. The program — which will serve as a national research resource to inform future precision medicine studies —launched its beta stage in June.
The Genomics Working Group is tasked with developing a data set of genomic variation for all stakeholders, including participants and researchers. It also aims to create a genomics resource for discovery and advancing knowledge to the participant, as well as setting a foundation for future genomic testing.
Here are the four commonly used approaches for detecting variation in the human genome.
1. Whole genome genotyping, or the analysis of human DNA by using genome-wide genotyping arrays in combination with imputation methods that leverage haplotypes.
2. Whole exome sequencing, which uses hybrid selection to isolate the exome and short-read DNA sequencing to identify common and rare genetic variants.
3. Whole genome sequencing uses short-read DNA sequencing technologies to identify common and rare genomic variants across the whole genome.
4. Whole genome sequencing plus is similar to whole genome sequencing, although it is more costly. It uses more expensive technologies to identify larger single nucleotide variants not identified by the aforementioned methods. The Genomic Working Group does not recommend this method for the pilot study.
Click here to read the full report.