The field of genomics has witnessed a shift in the last 2 decades, marked by the increased affordability and accessibility of personal genomes.
About the Genome:
- A genome is the complete set of genes or genetic material present in a cell or organism.
- It includes both the coding and non-coding DNA (Deoxyribonucleic acid) sequences.
- It is stored in molecules of DNA called chromosomes.
- The genome of individuals within a species can vary, leading to genetic diversity.
- Understanding genetic variation is crucial for studying diseases, population genetics, and evolution.
About Genomics:
- Genomics is the study of the structure, function, mapping, and evolution of genomes.
- It involves the sequencing and analysis of DNA to understand the genetic information within an organism.
Applications of Genomics:
- Genomics has applications in medicine, agriculture, and biotechnology.
- In medicine, it is used for personalized medicine, genetic testing, and understanding the genetic basis of diseases.
- In agriculture, genomics is applied to crop improvement and livestock breeding.
- The CRISPR-Cas9 technology allows precise editing of genes, offering potential applications in genetic engineering, gene therapy, and disease treatment.
About Genome Sequencing:
- Genome sequencing involves sequencing the genome of an organism.
- It sequences the order of Adenine (A), Thymine (T), Cytosine (C) and Guanine (G) which is a unique combination of an organism’s DNA.
- This entails sequencing all of an organism’s chromosomal and mitochondrial DNA.
- Methods: Clone-by-Clone Method and Whole Genome Shotgun (WGS) Sequencing.
How democratisation of Genomics is advancing?
- Rapid advancements in next-generation sequencing have significantly lowered the costs associated with genome sequencing technologies.
- Personal genome sequencing, which was once limited to scientific research, is now mainstream, empowering individuals with insights into their genetic makeup.
- Personal genome sequencing enables the customization of treatments based on individual genetic profiles.
- Predicting susceptibility to specific diseases has now become possible, which can enhance precision medicine.
- Population-scale Genomic Projects: This projects, employed by various countries, seek to decode genetic foundations of diseases and finding potential cures.
Incidental Findings in Genetic Testing:
- Incidental findings refer to seeking genetic abnormalities beyond the primary purpose of a test.
- Whole exome sequencing, covering around 1% of the genome, reveals the presence of combinations of genes rather than single genes, which many times contributes to various diseases.
- Comprehensive genetic tests can identify genetic diseases, assist in pharmacogenomic assessments, carrier screening, genetic counselling, and mapping ancestry.
- Studies in the Indian population had uncovered under-diagnoseddiseases like cardiacchannelopathies and familial hypercholesterolemia.
- Familial hypercholesterolemia is a genetic disorder that makes the body unable to remove Low Density Lipoprotein (LDL, or bad) cholesterol from the blood.
- The BRCA1 and the BRCA2 genes mutations can increase the risk of breast cancer.
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