부산대학교 도서관

Summary: In addition to the lack of impact in clinical practice, the difficulty of translating these genomic discoveries represents uncertainty about the viability of clinical genomics in general. The vast majority of genetic quantities that are routinely evaluated for a patient were discovered and characterized prior to the era of high-throughput genomics, e.g. [28, 88, 77, 34, 51]. Although there have been one-off successes [89] and a wide range of candidate and pathway discoveries [85], the costs have been great relative to the payout in terms of widespread clinical use [14]. By examining issues at the point of translation, we can begin to provide a clearer picture of what is possible and realistic to accomplish in the clinic with the discoveries that we have from the high-thorughput era.