Whole Genome Sequencing and the Future of Disease Detection

Whole genome sequencing, the process of determining the complete nucleotide or DNA/RNA sequence of a genome at one time, has been lauded in recent years for its potential to transform infectious disease management.

How Does Whole Genome Sequencing Work?

The WGS process involves four main steps:

  1. DNA shearing: Molecular scissors are used to cut the DNA into pieces that are small enough for the sequencing machine to read.
  2. DNA bar-coding: Small pieces of DNA tags, or bar codes, are added to identify which piece of sheared DNA belongs to which bacteria.
  3. Whole genome sequencing: The bar-coded DNA from multiple bacteria is combined and put in the whole genome sequencer. The sequencer identifies the bases of each bacterial sequence and keeps track of which bases belong to which bacteria.
  4. Data analysis: The bacterial sequences are analyzed and compared, to understand how likely it is that they are part of the same outbreak.

The Impact of WGS

By combining detailed genetic information with epidemiologic data, scientists can more precisely link illnesses to specific food or animal sources. Whole genome sequencing provides more detailed and precise data for identifying outbreaks than other current standard techniques and can provide rich data for tracking pathogens and antimicrobial resistance. Advancements in sequencing technology, such as next-generation sequencing, expanded databases, and vast online tools, are shaping the way diseases are detected, and major public health organizations are adopting it as the norm. In 2019, the CDC’s PulseNet, announced its laboratory network would transition to using whole genome sequencing.

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