Genome Sequencing; Overview and Application

With the sequencing of the entire human genome in the early 2000’s and with the cost reductions in this process using improved efficiencies from “next-gen” sequencing techniques making this same testing commercially available, we are being confronted with options in learning our genetic backgrounds.  On radio especially, companies like 23 and me promote learning ones genetic ancestry as a way to understand why one may have certain behavioral tendencies.  While interesting, we are a long way from making a jump from the presence of genes, the presence of gene mutations (“snp’s”) and direct evidence of their relationship on behavior or even disease predictability.  The attached article is a very nice and succinct explanation of these issues.  While we can sequence the human genome and while we can identify an individual’s risk for certain rare diseases and drug metabolism issues, the sheer number of genes makes it difficult to decide if any particular variant is truly significant.  Thus, current applications seem to fall into the following headings for clinical use.  Rather than sequencing the whole genome, running genetic tests for a panel of known significant mutations, for known drug metabolism issues or on certain tumors known for particular prognostic genetic biologic behaviors are the emerging uses.  Of course, this is always applied within the appropriate clinical context.

http://www.mayoclinicproceedings.org/article/S0025-6196(16)30682-6/fulltext

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