Table 3.
Comparison of Genetic Methods
| Characteristic | GWAS | CGA | WGS | WES | DGP |
|---|---|---|---|---|---|
| Applicable to rare disorders such as dystonia | limited | yes | yes | yes | yes |
| Applicable to disorders with multiple genes such as dystonia | limited | limited | yes | yes | yes |
| Applicable to genes with heterogeneous mutations such as dystonia | no | yes | yes | yes | yes |
| Requires extensive clinical expertise in dystonia syndromes | no | yes | no | no | no |
| Requires selecting specific dystonia genes | no | yes | no | no | yes |
| Can simultaneously detect all currently known genes for isolated dystonias | no | no | yes | yes | yes |
| Can simultaneously detect all currently known genes for combined dystonias | no | no | yes | yes | yes |
| Forward-compatible with discovery of novel dystonia genes | no | no | yes | yes | yes |
| Capable of contributing to discovery of new genes genes | limited | no | yes | yes | yes |
| High sample throughput | yes | yes | no | no | no |
| Cost per subject1 | $100 | $100–10,0002 | $3,000 | $1500 | $1500 |
| Burden of data analysis | low | low | very high | high | moderate |
Abbreviations: CGA, candidate gene approach; DGP, dystonia gene panel, GWAS, genome wide association study; WES, whole exome sequencing; WGS, whole genome sequencing.
1
estimates are based on typical clinical diagnostic labs in the USA;
2
actual amount depends on the numbers and sizes of genes selected.