What is Whole Genome Sequencing (WGS)?
Whole Genome Sequencing (WGS) is a powerful technology that examines an individual’s entire genetic makeup. It allows Doctors and Scientists to study all the DNA in a person’s genome, helping to identify genetic changes that may explain symptoms or health conditions.
Why is WGS important?
WGS provides valuable insights into a person’s health by analyzing genes for mutations and indicators that might be causing illnesses. It can detect a wide range of conditions, such as intellectual disabilities or developmental delays, and is currently available for patients at Jaipur Molecular Lab.
An Overview
In some rare cases, when standard medical tests cannot explain severe symptoms in a newborn or child, the answer may lie hidden in their genes. Genes are like sentences in an instruction manual, telling the body how to create and maintain cells, tissues, and organs.
Genes, however, make up only 1–2% of your entire DNA, called the genome. This portion, which carries instructions for making proteins, is known as the exome. In the past, researchers often relied on Whole Exome Sequencing (WES) because it was less costly and easier to analyze.
Now, with advances in technology and reduced costs, Whole Genome Sequencing (WGS) at Jaipur Molecular Lab has become a more comprehensive option. It decodes all 3 billion DNA base pairs in a person’s genome and creates a digital file of this data. Experts then analyze it to find genetic mutations linked to illnesses.
At Jaipur Molecular Lab, geneticists and researchers work together to solve complex medical problems at genetic level.
Clinical applications of WGS. Whole Genome Sequencing (WGS) finds its primary clinical applications in diagnosing rare diseases and pinpointing actionable somatic variants within tumors.
WGS vs. WES: What’s the Difference?
- Whole Exome Sequencing (WES): Sequences only 1–2% of the genome, focusing on the genes.
- Whole Genome Sequencing (WGS): Sequences the entire genome, providing more detailed and complete results.
When is WGS recommended?
- When time is critical:
Rapid diagnosis is essential in emergencies where immediate treatment could be life-saving. - When WES results are inconclusive:
If WES cannot provide enough information, WGS offers a more thorough analysis.
What Conditions Can WGS Help Diagnose?
WGS can uncover genetic causes of many unexplained conditions, such as:
- Intellectual disabilities or severe learning problems
- Developmental delays, including difficulty walking or talking
- Brain abnormalities
- Seizures
- Abnormalities in the head, neck, or face
- Vision or hearing problems
- Heart or lung issues
- Digestive system problems
- Short stature or skeletal abnormalities
- Limb abnormalities (arms, legs, hands, or feet)
- Immune system deficiencies or frequent infections
- Severe, unexplained illnesses
Benefits and Risks of WGS
Benefits:
- Helps diagnose genetic conditions, enabling more personalized treatments.
- Provides clarity and relief for families searching for answers.
- Offers the opportunity for other family members to be tested if necessary.
Risks:
- Emotional or psychological impact of unexpected findings.
- Discovery of unrelated risks, such as predisposition to diseases like cancer.
(Patients can choose to opt out of learning about these secondary findings.)
Why Choose Jaipur Molecular Lab?
Whole Genome Sequencing (WGS) at Jaipur Molecular Lab is performed by using cutting-edge technology with a focus on speed and accuracy. Results and their interpretation are often available within a week, which is especially beneficial in cases requiring urgent diagnosis and treatment. Emphasizes the lab’s unique ability to provide rapid WGS services, ensuring that patients and their families receive timely and actionable insights.