The Pros and Cons of Whole Genome Sequencing
| Keyboard Shortcut | Action |
|---|---|
| Space | Pause/Play video playback |
| Enter | Pause/Play video playback |
| m | Mute/Unmute video volume |
| Up and Down arrows | Increase and decrease volume by 10% |
| Right and Left arrows | Seek forward or backward by 5 seconds |
| 0-9 | Fast seek to x% of the video. |
| f | Enter or exit fullscreen. (Note: To exit fullscreen in flash press the Esc key. |
| c | Press c to toggle captions on or off |
The Costs and Benefits of Treating Gene Defects
Knowing the complete sequence of a person’s genome, including the location, structure, and function of specific genes, may be the first step in solving some of the deepest mysteries of inherited diseases. Whole genome sequencing is a form of screening that may be done as early as birth or at any time in a person’s life.
Click on the left to watch the video about Alexis, who has a genetic disorder. Whole genome sequencing enabled doctors to eventually identify a single mutation that causes her rare—but treatable—condition. However, what worked for Alexis will not work for everyone. Most inherited diseases cannot be traced to a single mutation, and cures are not available for every inherited condition that can be detected.
After watching the video, imagine that you are responsible for deciding whether all children in your country should have their genomes sequenced at birth. List two or three reasons why you might favor whole genome sequencing and two or three reasons why it might not be a good idea.
