When considering the upfront costs and promised downstream benefits of genomics informed medicine, what type of assay would you recommend a hospital or precision medicine research program use to gather genomic information: DNA microarrays, whole exome sequencing, whole genome sequencing, or a mix? In addition, do you think genome sequencing will continue to be the dominate sequencing technique for omics informed medicine, or will other techniques, such as single cell transcriptomics eventually surpass genome sequencing in terms of use and effectiveness for omics informed medicine?
Asked by AnonymousThank 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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