Enhancing the Incidental Pipeline in Genomic Sequencing

[摘要] Recent advances have increased the accuracy, affordability, and availability of high-throughput sequencing. Genomic sequencing (including both whole-exome and whole-genome sequencing) is beginning to be explored in the practice of prospective medicine. Currently, however, the most common use involves trying to explain a patient's presentation by identifying a causative genetic variant. Here, the traditional clinical evaluation often progresses towards genomics research. For example, a patient with a disorder of unknown etiology may exhaust the standard clinical work-up, typically involving examining specific genes of interest and/or performing testing to look for structural genomic alterations. If no genetic explanation has been found, the patient may undergo genomic sequencing, sometimes on a research basis. Of note, the distinction between ‘clinical sequencing’ and ‘research-based sequencing’ is sometimes blurred, especially in the context of rare diseases. For example, some research labs conduct standard sequencing of known target genes for a certain disorder and will return these results relatively efficiently (whether positive or negative); if nothing is found, these same labs will continue to use the samples to investigate novel targets on a more classic research basis. Again, if a genetic explanation is then found and proven, this would then be returned to the research participants, even if long after initial participation.

[学科分类] 基础医学

[关键词] Exome;Genome;Genomic sequencing;Incidental medical information;Incidental pipeline