Abstract
In Western cohorts, the prevalence of incidental findings (IFs) or incidentalome, referring to variants in genes that are unrelated to the patient's primary condition, is between 0.86% and 8.8%. However, data on prevalence and type of IFs in Asian population is lacking.
In 2 cohorts of individuals with genomic sequencing performed in Singapore (total n=377), we extracted and annotated variants in the 56 ACMG-recommended genes and filtered these variants based on the level of pathogenicity. We then analyzed the precise distribution of IFs, class of genes, related medical conditions, and potential clinical impact.
We found a total of 41,607 variants in the 56 genes in our cohort of 377 individuals. After filtering for rare and coding variants, we identified 14 potential variants. After reviewing primary literature, only 4 out of the 14 variants were classified to be pathogenic, while an additional two variants were classified as likely pathogenic. Overall, the cumulative prevalence of IFs (pathogenic and likely pathogenic variants) in our cohort was 1.6%.
The cumulative prevalence of IFs through genomic sequencing is low and the incidentalome may not be a significant barrier to implementation of genomics for personalized medicine.
•We studied the prevalence and type of incidental findings in genomic sequencing data of 377 individuals from South East Asia.•We detected pathogenic variants in 4 individuals and likely pathogenic variants in 2 individuals•Overall, the prevalence of incidental findings in our cohort was 1.6%•The burden of incidental findings may not be a significant barrier to implementation of genomics for personalized medicine
Incidental findings (IFs) in genomic sequencing, or incidentalome, refer to variants in genes that may be of medical significance, but unrelated to the patient's primary condition. In analyses of Western cohorts, the prevalence of IFs is reported to be between 0.86% and 8.8%. A study of 196 Korean individuals revealed a frequency of 6–7%.
The data on prevalence and type of IFs in Asian populations is lacking. In our cohort of 377 individuals, the cumulative prevalence of IFs is 1.6%, which is similar to what is reported in the Western population. This is the largest study so far that examines IFs specifically in an Asian population.
The cumulative prevalence of IFs through genomic sequencing is low and the incidentalome may not be a significant barrier to implementation of genomics for personalized medicine.