Genome Testing: Everything About It!

Genetic testing may also be called DNA testing. It's a type of test that can identify changes in the genes, chromosomes, or proteins in the human body. Genetic testing takes a sample of blood, skin, hair, tissue, or amniotic fluid. 

The test may be able to confirm or rule out if a person has a genetic condition. It may also help determine your chances of developing or passing on a genetic disorder. 

Genetic testing looks for changes in your genes, chromosomes, and proteins. DNA tests can give lots of information about the genes that make up who humans are. They can confirm if an individual has or doesn't have a specific disease. 

Genome Testing can determine if a person has a higher risk of developing certain conditions. And they can find out if an individual carries a specific mutated gene that one can pass to their child. 

The above-listed applications have created a crucial space for genome testing in today's era as the disease types and severity have leaped. This led to the growth of this market. According to a research report by Astute Analytica, the Genomic Testing Market will register a CAGR (Compound Annual Growth Rate) of 9.54% during the forecast period 2023-2031.

Working Of Genome Testing

Nearly every cell in your body contains DNA, genes, and chromosomes. Each serves a specific and interrelated function: 

• DNA (deoxyribonucleic acid) is a double-stranded molecule that contains all the genetic information about you as an individual. The unique sequence of these substances provides the programming code for your body. 

• A Gene is a distinct portion of DNA that contains coded instructions on how and when to build specific proteins. Any flaws in its DNA coding can affect how those instructions are delivered. These flaws are referred to as genetic mutations. 

• A Chromosome is a bundled unit of genes. Every human has 46 genes, 23 of which are inherited from the mother and father, respectively. Each chromosome contains between 20,000 to 25,000 genes. 

In recent years, advances in technology and a broader understanding of the human genome have allowed scientists to pinpoint which mutations confer certain illnesses or characteristics.

Types of Genome Testing 

• Newborn screening:
  Newborn screening is done just after birth to identify genetic disorders that can be treated early in life. For example, every baby in the UK is tested for cystic fibrosis as part of the heel prick test. 

• Diagnostic testing:
  Diagnostic testing is used to identify or rule out a specific genetic disorder if a baby or person has symptoms to suggest a certain genetic disorder (for example, Down's syndrome). 

• Carrier testing:
  Carrier testing is used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. This type of test can be useful to provide information about a couple's risk of having a child with a genetic disorder.

• Prenatal testing:
  Before birth testing is used to detect changes in an unborn baby's genes. This type of testing is offered during pregnancy if there is an increased risk that the baby will have a genetic or chromosomal disorder.  

• Pre-implantation testing:
  Pre-implantation genetic testing is available for couples who are at risk of having a child with a specific genetic or chromosome disorder.  

• Predictive testing:
  Predictive testing is used to detect genetic mutations associated with disorders that appear after birth, often later in life. These tests can be helpful to people who have a family member with a genetic disorder but who have no features of the disorder themselves at the time of testing.