Genomics For Children

Have you ever heard someone say that you look like your father’s family or have your mother’s hair? This is because your parents gave you these physical characteristics. Genes are the component that contains data pertaining to this physical characteristic. Genes are distinct sections of DNA that store information that is handed down from one generation to the next. There are numerous genes in humans that carry information that affects both our outward appearance and internal processes.

What is Genomics?

What we refer to as genomics is the study of these collections of genes and how they interact. Genomics is similar to a Lego model built using hundreds of different-sized, shaped, and colored blocks. Each Gene is equivalent to a single Lego block.

What is DNA?

Genes are distinct sections of DNA that store information regarding physical or molecular characteristics. In each of us, there are between 25,000 and 30,000 genes that encode everything from physical characteristics like the color of your hair to the shape of your face.

Deoxyribonucleic acid (DNA) looks like a twisted ladder and exists in every cell of your body. The long, stringy DNA molecule, which functions like an instruction manual with information on all genes is made up of small units called nucleotides. There are four kinds of nucleotides, Adenine (A), Cytosine (C), Thymine (T) and Guanine (G). They get arranged in different order to form all genes (like in a computer every code is represented by 0 and 1). An average person’s body has 3 billion nucleotides. The intriguing fact is that 99% of those nucleotides are the same in every person, meaning that only 1% of our DNA is responsible for all of our uniqueness.

What are Chromosomes?

Chromosomes, which are located in the nucleus of every cell, are very long, thin DNA fibers covered with packaging proteins. We have 46 total chromosomes, divided into 23 pairs. One copy comes from the mother and one from the father. The 23rd pair is known as the sex chromosome, while the other 22 are known as autosomes. XX produces a girl, while XY produces a boy.

In a nutshell

Cell nuclei have chromosomes. Chromosomes carry DNA. Genes that carry the information that make you unique are distinct sections of DNA.

Genomics VS Genetics

Genetics and genomics are both fields of study that focus on genes, but they differ in their scope and focus.

Genetics is the study of genes and their role in inheritance. It looks at how genes are passed from parents to offspring and how they influence traits such as eye color, hair color, and height.

Genomics is the study of the entire genome, which is the complete set of genes in an organism. It looks at how genes interact with each other and with the environment to influence health and disease.

FeatureGeneticsGenomics
ScopeStudy of individual genesStudy of the entire genome
FocusInheritance of traitsThe function of genes and their interactions
ToolsDNA sequencing, genetic mappingDNA sequencing, bioinformatics, statistical analysis
ApplicationsDiagnosis of genetic disorders, genetic counselingPersonalized medicine, drug discovery, disease prevention

How is genomics useful?

Genomics has a wide range of applications, including:

Personalized medicine: Genomics can be used to predict an individual’s risk of developing certain diseases, as well as their response to specific treatments. This information can be used to tailor medical care to each individual’s needs.

Diagnosis of genetic disorders: Genomics tests can be used to diagnose genetic disorders, such as cystic fibrosis, sickle cell disease, and Huntington’s disease.

Risk assessment: Genomics tests can be used to assess a person’s risk of developing certain diseases, such as cancer, heart disease, and Alzheimer’s disease.

Diagnosis and treatment of diseases: Genomics can be used to diagnose diseases, such as cancer, and to identify the best treatment options for each individual.

Drug discovery: Genomics can be used to identify new drug targets and to develop new drugs that are more effective and have fewer side effects.

Forensic science: Genomics can be used to identify individuals, solve crimes, and trace the spread of diseases.

How is the genomics test done?

There are two main types of genomics tests:

Exome sequencing: This type of test looks at the protein-coding genes in the genome. These genes make up about 2% of the genome.

Whole genome sequencing: This type of test looks at all of the DNA in the genome, including the protein-coding genes and the non-coding DNA.

The process of doing a genomics test involves the following steps:

Sample collection: The first step is to collect a sample of DNA from the person being tested. This can be done through a blood draw, a cheek swab, or a saliva sample.

DNA extraction: The DNA is then extracted from the sample. This process involves breaking down the cells in the sample and isolating the DNA.

DNA sequencing: The DNA is then sequenced, which means that the order of the nucleotides in the DNA is determined.

Data analysis: The sequencing data is then analyzed to look for changes in the DNA.

Interpretation of results: The results of the analysis are then interpreted by a genetic counselor or other qualified professional.

The time it takes to complete a genomics test varies depending on the type of test and the laboratory that is doing the testing. Exome sequencing typically takes a few weeks, while whole genome sequencing can take months.

The cost of genomic testing in India

The cost of genomic testing in India varies depending on the type of test, the laboratory that performs the test, and the location of the laboratory. However, in general, genomic tests in India can range from a few thousand rupees to tens of thousands of rupees.

A basic genetic test, such as a paternity test, can cost between Rs. 10,000 and Rs. 15,000.

A more complex genetic test, such as a test for a specific genetic disorder, can cost between Rs. 20,000 and Rs. 50,000.

A comprehensive genomic test, which can assess a person’s risk for a variety of diseases, can cost between Rs. 50,000 and Rs. 100,000.

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