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Advances at the interface: merging information technologies with genomic methodologies

  • Author(s): Walker, Faye
  • Advisor(s): Soh, Hyongsok T
  • et al.
Abstract

Deoxyribonucleic acid (DNA) is a molecule whose importance towers like a colossus in the sweeping field of biomedicine. The chemical structure of double stranded DNA is itself a helical tower that forms not only the backbone of medical research, but of life itself. Yet, we cannot let DNA be constrained to this role of solid, rigid building block if we wish to utilize its full potential. In its single stranded form, DNA can take on unexpected tertiary shapes that allow it to interact with polymerases, proteins, and organic molecules. This ability gives nucleic acids immense potential for molecular recognition. From monitoring a state of health to identifying toxins in drug development, using DNA as a sensing element can bring valuable information.

Clinical diagnostics have benefited enormously from the sensitivity, specificity, and rapidity of nucleic acid testing (NAT). It can be easy to take blood donor screening, heritable genotyping of newborns, and other standard operating procedures for granted in the developed world. Developing nations with as few as one physician for every 100 people are lacking in the healthcare infrastructure (to say the least) to provide these molecular tests. The key to unlocking the progressions made by NAT in identifying causative agents of disease comes in the form of a ubiquitous tool: mobile phones. Almost 7B people in the world own cell phones. By combining the optical imaging capabilities and computational powers of mobile phones with a streamlined amplification platform, the ability to detect diseases becomes available to those who could truly reap its benefits.

The synergistic nature of merged technologies is something that extends beyond nucleic acid amplification tests (NAATs) to analysis of recombinant DNA products. Most fields have single-use products that are essential for one purpose but otherwise hidden from view. When brought to the attention of other disciplines, nucleic acid analysis tools such as next generation sequencing (NGS) can segue from providing information on full genomes to identifying highly represented DNA affinity agents from candidate pools. Bringing the systems of particle display, high throughput sequencing (HTS), and in situ microarray synthesis to a sequence selection process enhances screening capabilities to the extent that hundreds of sequences can be identified en masse as binding to thousands of targets.

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