With latest developments and its cost becoming more reasonable through the years, genome sequencing promises to take newborn screening to a whole new level.

What Is Newborn Screening

Newborn screening is a mandatory medical procedure done on babies within 72 hours after delivery.

It includes a newborn physical examination, where eyes are checked for cataract, heart is checked for irregular heart beat or "murmurs," and in boys, if testicles are in the right place.

A newborn screening blood spot or heel prick test, where a nurse or phlebotomist will draw blood sample from the baby's heel and send it to a laboratory, is needed to identify if he's at risk for any of the nine rare diseases.

A newborn hearing screening through an automated otoacoustic emission (AOAE) test will also be performed to check for possible hearing loss. It is highly recommended that a baby takes a hearing test within the first four to five weeks up to three months of age.

Conditions Detected By Newborn Screening

Newborn screening has been proven effective at identifying and preventing serious congenital and genetic conditions. These include metabolic disorders (phenylketonuria or PKU), endocrine disorders (congenital hypothyroidism and congenital adrenal hyperplasia), hemoglobin disorders (sickle cell anemia), and cystic fibrosis.

The Future Of Newborn Screening With Genome Sequencing

The Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) program, a consortium of several grants funded by the National Institutes of Health (NIH), is looking into the potential implications of genome sequencing techniques for newborn screening in diagnostic, preventative, and predictive clinical scenarios.

"Genome sequencing is a new and still enormously complex process, and oftentimes the results have uncertain implications. These studies represent some of the first organized approaches to developing the best practices for determining the right information and best ways to return it to parents and their babies' doctors," Alan Beggs, PhD, of the Manton Center for Orphan Disease Research at Boston Children's Hospital and Professor of Pediatrics at Harvard Medical School said.

What Does This Mean For Parents

With the ability to explore the entire genome of a newborn baby, parents will now have the opportunity to know how their child's health will fare throughout his life. But do they really want to know?

According to Jonathan Berg, MD, PhD, associate professor of genetics at the UNC School of Medicine and one of the authors of a paper in the consortium, not all parents are interested in genome sequencing or the genetic information of their newborn child, although there are some who do.

"Some people think this concern is an old, quaint notion that is being made obsolete by technology. And some people believe fervently that it could infringe on the child's autonomy or potentially even harm the child if parents learned or intervened too much," he said.

"But the bottom line is we hope that the information we get from these studies will help us make recommendations for how to best roll out some form of newborn genomic screening in the future," Berg concluded.

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