NEXT GENERATION SEQUENCING

Next-Generation Sequencing is a cutting-edge genetic code reading technology that has the capacity to concurrently decode extensive volumes of genetic material (massive parallel sequencing). It operates on a fundamental principle: reading the sequence of genetic bases during the synthesis reaction of genetic material (sequence by synthesis). Subsequent to data acquisition, the obtained information undergoes processing through bioinformatics techniques. This process is employed to identify genetic variations responsible for genetic disorders, including hereditary conditions like familial cancer and heart diseases, which are traceable through family history. NGS also aids in diagnosing genetic diseases and enhancing its diagnostic utility for rare diseases.

Application of Next-Generation Sequencing (NGS)
Next-generation sequencing (NGS) can be categorized for medical purposes as follows:
1. Whole Genome Sequencing (WGS): This method involves sequencing the entire genome, which is essentially reading every sequence of genetic material within the body simultaneously. It offers comprehensive insights into an individual’s genetic makeup.
2. Whole Exome Sequencing (WES): WES entails reading the complete genetic sequence, but it selectively examines specific areas that have been extensively studied. These areas are responsible for genetic expression, particularly those that can be coded into proteins or are part of the coding region. While it might not provide answers in cases where disease symptoms lack sufficient database information, WES remains valuable for physicians in terms of future patient treatment planning and research.
3. Clinical Exome Sequencing: Similar to WES, clinical exome sequencing reads the entire genetic sequence but focuses on areas scientifically linked to symptoms of known genetic diseases. These areas are well-documented in international databases such as OMIM, HGMD, and ClinVar. This approach is highly suitable when a clear genetic disease association is sought, especially in cases where conventional genetic testing methods have not yielded answers.
4. Targeted Gene Sequencing: Targeted gene sequencing is designed to detect abnormalities or mutations in specific genes of interest. It is particularly valuable when investigating known disease-causing genes, such as BRCA1 and BRCA2, associated with breast cancer. These genetic variations may either arise in the patient or be inherited from one of their parents.