diagnose genetic diseases in child

The Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, has established a project to diagnose genetic diseases in children with unknown causes using next-generation sequencing technology. This includes the use of whole exome sequencing (WES) technology to perform research and develop genetic testing for approximately 20,000 genes across the entire exome in pediatric patients with genetic disorders, including rare and undiagnosed diseases. WES enables rapid diagnosis within 1-2 weeks, paving the way for targeted and effective treatment, ultimately reducing the rates of disability and mortality.

Genetic disorders are diseases caused by abnormalities in genetic material that lead to congenital disabilities. They can be caused by genetic and environmental factors and can affect any system of the body. Genetic disorders are found in both children and adults and can be classified into three main types:

1.  Single-gene disorders: These are genetic disorders caused by a mutation in a single gene. Examples include Neurofibromatosis type (NF) and Thalassemia.

2. Chromosomal disorders: These are genetic disorders caused by a change in the structure or    number of chromosomes. Examples include Down syndrome, Edwards syndrome, Patau syndrome.

3. Multifactorial disorders: These are genetic disorders caused by a combination of genetic and environmental factors. Examples include Cleft lip and cleft palate, and Cancer.

Leading hospitals and institutions around the world are increasingly utilizing next-generation sequencing technologies, including whole genome sequencing and whole exome sequencing (WES), alongside advanced computational processing in medicine and public health. This integrated approach leverages medical big data repositories to enhance diagnostic accuracy and enable personalized and precise treatment.

Project expenses:

1.  Genetic testing for 40 child patients (25,000 baht/patient)            1,000,000 baht

2. Other expenses (materials/reagents/equipment/medical supplies)     250,000 baht

Total 1,250,000 baht

Benefits for patients:

Children with genetic and rare diseases will have access to rapid, effective, and personalized treatment. This will improve their quality of life and reduce the rates of disability and death.