Whole-Genome Sequencing : In Newborns
The use of rapid whole-genome sequencing (WGS) in newborns, including healthy newborns, has emerged as a revolutionary approach to diagnose and treat genetic diseases.
- By providing a comprehensive view of an infant’s genetic makeup, this technology enables healthcare workers to make fast and effective diagnoses, leading to improved outcomes and reduced healthcare costs
- Whole-Genome Sequencing all organisms have a unique genetic code, or genome, that is composed of nucleotide bases- Adenine (A), Thymine (T), Cytosine (C) and Guanine (G).
- The unique Deoxyribonucleic Acid (DNA) fingerprint, or pattern can be identified by knowing the sequence of the bases in an organism.
- Determining the order of bases is called sequencing.
- Whole genome sequencing is a laboratory procedure that determines the order of bases in the genome of an organism in one process.
- Importance of Sequencing Newborn Genomes:
- Rapid, precise diagnosis of rare genetic diseases not detected by standard screenings.
- Detection of treatable conditions, enabling early intervention or gene-based therapies.
- Insight into future health risks, facilitating informed choices and preventive measures.
- Revelation of ancestry, traits, and carrier status for personal and social value.