New sequencing technologies are currently revolutionizing the field of genomic diagnostics. They enable geneticists to investigate exomes, genomes and transcriptomes at an unexampled depth and level of detail.
The availability of comprehensive genetic services locally:
- Will avoid an uncertainty for families, not to mention the economic costs of unnecessary diagnostic procedures.
- Improve patient’s management by clinicians.
- Improve prophylactic strategies for patients.
- Will reduce the cost comparing to the price offered by international laboratories.
- Will address local concerns about privacy and exporting genetic data for commercial purposes (confidentiality of the results).