Newborn screening by Gen sequencing

Article written by Doctor Bui Thi Phuong Hoa - Genetic consultant doctor - Vinmec Hi-tech Center

Researchers have proposed using this technology to screen all infants for health conditions they may have or are at risk of developing during childhood.
Newborn genome sequencing will not replace standard newborn screening (now there is a national program for some underlying metabolic diseases). Like current newborn screening, newborn genome sequencing will allow doctors to identify health conditions very early in life.
This technique will greatly expand the number and range of health conditions that can be diagnosed soon after birth, potentially allowing doctors to start other treatments and monitoring as soon as possible.
As interest in infant genome sequencing grows, researchers and ethologists have identified ethical, social and legal issues that may need to be considered before technology This is widely applied.

These include the following considerations:
Some genetic changes will have implications for the health not only of the infant but also of the parents and other family members. The interpretation of genomic data is constantly evolving, and it is currently unclear whether certain changes in the genome are related to a person's health. While some genetic changes have immediate implications for a newborn's health, others only affect the risk of developing health problems later in life. Neonates cannot provide informed consent, which is often required when testing for adult-onset diseases. Newborn genomic screening poses privacy issues and the potential for genetic discrimination if genomic data becomes part of a child's medical record. Newborn genome sequencing may also have other unrecognized risks and limitations. All of these issues are being investigated as neonatal genome sequencing becomes increasingly possible on a large scale.