Overview of genetic vs genomic testing
| . | Genetic testing (ie, single-gene or targeted gene panel) . | Genomic testing (ie, WES/WGS backbone) . |
|---|---|---|
| Advantages | Lower cost Simpler data analysis Shorter reporting times Efficient for confirming laboratory diagnosis or targeted familial testing Can be useful in resource-limited settings in which coagulation testing is not available | Allows simultaneous assessment of larger numbers of genes of interest Covers coding and noncoding regions Identification of rare variants, ie, structural variants or CNVs Useful for gene discovery Able to reanalyze data for new genes of interest without resequencing |
| Disadvantages | Misses rare variants, ie, structural variants or CNVs Only informs on selected genes Can become rapidly outdated and miss unanticipated findings Generally limited to smaller numbers of genes of interest | Higher cost Produces very large data sets More complicated data analysis requiring specialist bioinformatics tools Comparatively longer reporting times Highest likelihood of incidental findings May miss small CNVs/complex rearrangements |
| . | Genetic testing (ie, single-gene or targeted gene panel) . | Genomic testing (ie, WES/WGS backbone) . |
|---|---|---|
| Advantages | Lower cost Simpler data analysis Shorter reporting times Efficient for confirming laboratory diagnosis or targeted familial testing Can be useful in resource-limited settings in which coagulation testing is not available | Allows simultaneous assessment of larger numbers of genes of interest Covers coding and noncoding regions Identification of rare variants, ie, structural variants or CNVs Useful for gene discovery Able to reanalyze data for new genes of interest without resequencing |
| Disadvantages | Misses rare variants, ie, structural variants or CNVs Only informs on selected genes Can become rapidly outdated and miss unanticipated findings Generally limited to smaller numbers of genes of interest | Higher cost Produces very large data sets More complicated data analysis requiring specialist bioinformatics tools Comparatively longer reporting times Highest likelihood of incidental findings May miss small CNVs/complex rearrangements |
CNV, copy number variant.