In the UK, whole-genome sequencing will map the genetic code of healthy babies for the first time under the National Health Service (NHS).
The project, which will start next year, will be run in partnership with the National Health Service (NHS) and Genomics England. It is stated that if successful, it can spread throughout the country.
The heel blood test, which is still administered to newborns today, screens for nine rare diseases, including cystic fibrosis and sickle cell anemia.
"We want to be able to offer rapid diagnosis, faster access to treatment and better outcomes and quality of life," said Dr Rich Scott, Genomics England's Chief Medical Officer. said.
Thousands of Children Are Affected Every Year by Rare Genetic Diseases
There are at least 7,000 single gene disorders, most of which appear in early childhood.
Several thousand children in the UK are affected by rare genetic diseases each year, but families are often subjected to years of testing and uncertainty before they are diagnosed.
The Project Can Also Detect Possible Diseases in Old Ages
The list of genetic conditions to be included in the new screening program is not yet finalized, but each will have a treatment that can relieve the condition.
Whole genome sequencing can also identify conditions that only occur later in life, such as some cancers.
About one in every 400 people inherits a faulty BRCA1 or BRCA2 gene, which can increase the risk of breast, ovarian, prostate and pancreatic cancers.
While whole genome sequencing will identify such mutations, it will not be the focus of the study.
Accessing genetic data later in life may improve the treatment of some diseases and prevent harmful drug interactions.
What is a Genome?
The genome is the entirety of an organism's DNA molecules, that is, its genetic instructions. Each genome has the information it needs to construct and develop the organism it belongs to. Our body is made up of millions of cells. Each of these cells contains the instructions necessary to create us; just like a recipe. These instructions are our genome and are made up of DNA. Every cell in the body, such as a skin cell or liver cell, carries the same set of instructions.