Only 2% of exome sequencing participants get additional recommendations

Out of 6240 participants involved in a project of Clinical Sequencing Exploratory Research (CSER) Consortium, 74 have gotten additional medical recommendations based on their exome sequence.

At the beginning of genome and exome sequencing projects, American College of Medical Genetics and Genomics created a list of 56 genes that should always be verified in every experiment. This initiative aimed to bring meaningful “secondary information” to all research participants.

However, recent reviews report about low quantity and low relevance of the ACMG list to the general population. Results from many projects suggest that secondary findings are present only in 2% or lower number of participants.

In the CSER project, the percentage reached 1,7%. Most common prevalence involved BRCA1 and BRCA 2 genes. A high number of variants was also found within RYR1 and SCN5A genes. Participants were informed about findings and had been provided with recommendations. The average cost of 1-year realisation of recommendations was $421, although only 1/3 of informed participants met with a recommended specialist.

More: “Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study”, M. Ragan Hart et al., 2018, doi:10.1038/s41436-018-0308-x.