Abstract
Human genome sequencing is the process by which the exact order of nucleic acid base pairs in the 24 human chromosomes is determined. Since the completion of the Human Genome Project in 2003, genomic sequencing is rapidly becoming a major part of our translational research efforts to understand and improve human health and disease. This article reviews the current and future directions of clinical research with respect to genomic sequencing, a technology that is just beginning to find its way into clinical trials both nationally and worldwide. We highlight the currently available types of genomic sequencing platforms, outline the advantages and disadvantages of each, and compare first- and next-generation techniques with respect to capabilities, quality, and cost. We describe the current geographical distributions and types of disease conditions in which these technologies are used, and how next-generation sequencing is strategically being incorporated into new and existing studies. Lastly, recent major breakthroughs and the ongoing challenges of using genomic sequencing in clinical research are discussed.
Highlights
Human genome sequencing, the process by which the exact order of nucleic acid base pairs in the 24 human chromosomes is determined, was the most significant technical challenge of the Human Genome Project
The objective of this review is to familiarize the translational investigator with genomic sequencing technologies as they apply to clinical trials
To illustrate the recent impact and widespread movement of genomic sequencing into clinical and translational research, we provide a summary of the types and distribution of clinical studies that are using genomic sequencing to enhance the understanding of complex pathophysiology and identify important biomarkers of both rare and common diseases
Summary
The process by which the exact order of nucleic acid base pairs in the 24 human chromosomes is determined, was the most significant technical challenge of the Human Genome Project. Transcriptome sequencing has evolved as a robust technique for evaluating gene expression changes from either healthy individuals who develop disease, or within diseases themselves, such as breast cancer and malignant metastases within the same patient [32] One application of this technology involved a study of lobular breast carcinoma, in which researchers found 32 somatic non-synonymous coding mutations present in the metastasis, and measured the frequency of these somatic mutations in DNA from the primary tumor of the same patient, which arose 9 years earlier. The largest U.S sample registered at the time of this review, sponsored by the National Cancer Institute (NCI), has enrolled 3,000 patients to study gene expression of lymphoma, leukemia, and multiple myeloma (NCT00339963) In this trial, DNA sequencing methods are being used to analyze base changes in the genome of the cancer cells. These methods require further development and ongoing validation, especially before applying the information in the clinical setting
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