Whole exome sequencing
Whole genome sequencing (WES) identifies the DNA base pair sequence of the protein coding regions of the genome, including proximal regulatory segments and the splicing junctions. WES may be applicable to testing for a wide range of genetic disease. It is most commonly used when a disorder is suspected to be genetic but is not recognizable clinically or when the patient's symptoms are consistent with a wide range of genetic disorders.
In 2018, whole exome sequencing (WES) was first scheduled for assessment in conjunction with genomic micro-array testing.
- After initial research, the scope of the 2018 assessment was narrowed to include only genomic micro-array testing.
- In 2019, WES was selected by the HCA director for it's own assessment which was completed in 2020.
Status: Decision completed
Why is WES being reviewed?
WES was selected as a topic for health technology assessment based on high concerns regarding safety and medium concerns for efficacy and cost.
Primary criteria ranking
- Safety = High
- Efficacy = Medium
- Cost = Medium
Documentation
| Type | Materials |
|---|---|
| Assessment (2019) |
Assessment timeline
- Draft key questions published: March 19, 2019
- Public comment period: May 15 to 28, 2019
- Final key questions published: June 24, 2019
- Draft report published: September 4, 2019
- Public comment period: September 5 to October 4, 2019
- Final report published: October 22, 2019
- HTCC public meeting: November 22, 2019