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Thank you for the question. I don't think there is a single answer to this today. In general, the correct genomic test is largely driven by the phenotype seen in the patient. If the patient has a phenotype that is known to be genetically well defined, then a more targeted test may be appropriate. If the phenotype is less well defined, then a whole exome or whole genome test may be more appropriate. In general, I'd recommend consulting with a genetic counselor when trying to understand information about genetic testing.
Moving forward, I certainly think other techniques, such as single cell transcriptomics, will have a role to play. I certainly expect genomic sequencing to continue to play a dominate role in testing, but I see a role for other assays in this arena as well.


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