What is genomics?
What conditions does sequencing look for?
Clinical genomic sequencing is used to investigate complex health and developmental problems with a suspected genetic cause. It’s often used by specialist groups, such as geneticists and neurologists, to investigate specific causes of well-known, but poorly understood conditions (like intellectual disability or brain malformations).
Genomic sequencing technology is also being used to identify many genetic conditions including rare syndromes, cardiac, neurological, and mitochondrial disorders.
What might the results show?
Genetic changes identified by genomic sequencing may fall into one of four categories. Testing might identify:
- no genetic variants of significance
- benign variants that are unlikely to cause genetic conditions
- pathogenic variants that are known to cause specific genetic conditions
- variants of unknown significance, which lack evidence to support their nature as benign or pathogenic. Further family testing may be required to determine the clinical significance of these findings.