If you could learn all the diseases that your child might possibly develop in life, would you do it?

CHAPEL HILL, NC – Neonatal screening is mandatory in the United States and varies slightly depending on the condition in which you live. Generally, it is performed before a newborn baby leaves the hospital. problems that usually occur in infancy or childhood and that may hinder normal development.

Compared to current neonatal screening, genomic sequencing is able to detect many more hereditary diseases. But the results are not limited to positive or negative tests and, with the products currently available commercially, these results and all the warnings that exist may not be fully explained to the patient. For this reason, the scientific community is working to determine how genomic sequencing should be implemented in neonatal screening before the technology is widely available.

"Of all the additional information we can provide through genomic sequencing, which could potentially be hundreds of conditions that could develop, what do parents want to learn and what information would be most appropriate to provide?" Laura Milko, PhD, badistant director of the Precision Medicine in Health Care program at the University of North Carolina School of Medicine.

Milko is the first author of a study published in The The Journal of Pediatrics which describes a method of sorting conditions to help clbadify the types of results to be disclosed in genomic sequencing of the newborn. Milko and his colleagues have identified several hundred conditions that it might be helpful to point out to parents. This study was part of a larger UNC School of Medicine project entitled Universal Screening Sequencing for Universal Screening in Newborns of North Carolina (NC NEXUS), led by Cynthia M. Powell. , MD, and Jonathan S. Berg, MD, PhD.

Current standards for newborn screening have been developed by the Health Resources Services Administration (HRSA) in the recommended filter selection group. The Milko study used this standard as a comparison tool to develop its sorting method.

"The conditions currently being sought in newborns are those that are treated more effectively if they are identified early, before the onset of symptoms," said Milko. "We have developed a sorting system that categorizes information in the same way."

It is important to categorize information because genomic sequencing results have many areas of darkness and some information is more useful than others. We have about 20,000 genes and they all play a role in the growth, development and functioning of our body. Modifications of these genes, also called variants, could interfere with the normal role of the gene and lead to certain health conditions. Genomic sequencing is able to identify the genetic variants of a person. Most of them are harmless or have no known impact on health, but some variants could be linked to rare genetic diseases. Variants identified by genomic sequencing are an indication of the possibility that a disease is developing, but do not necessarily identify when they will develop, nor the severity of the disease.

"Some diseases are more likely to develop than others," said Milko. "We are looking at how many people in the population with this particular gene variant end up developing the disease to determine its prevalence.This information helps to determine the utility of including in the genomic sequencing report of the disease." ;a newborn."

The group also examined when conditions tend to develop. Current screening standards only recommend tests for conditions that develop during early childhood or require immediate treatment Genomic sequencing may reveal genetic variants that impact throughout life, but providing outcomes related to conditions that may develop later in life may have legal and ethical implications. In addition, there is a debate about the usefulness of information when no treatment is available for the identified condition. Would you like to know that your child has a chance to develop a life-threatening illness at some point if you could not do anything to prevent or treat it?

"It is feared that learning about the genetic risks of a child may increase the anxiety of his parents and have a negative impact on the family, especially when there is no need for it. has nothing to do to fix it, "said Milko. "There are also issues related to disclosure of findings regarding adult onset conditions, as disclosure of this information on an infant would preclude the infant from deciding when to learn when he or she will learn. He will become an adult. "

Jonathan Berg, MD, PhD, an badociate professor in the Department of Genetics and director of the Precision Medicine in Health Care program, was the lead author of this study. All of these factors played a role in the way Milko and his research team categorized disease indicators. They examined 822 gene-disease pairs in total and determined that it would be useful to add 466 to newborn screenings based on current HRSA standards. 245 additional people were identified as potentially helpful and suggested that they be offered as additional testing if the parents so wish.

"We need to start the dialogue with doctors, policy makers and parents on the use of this technology," Berg said. "Sequencing is really the easiest part, and the hardest part is thinking about the results, teaching the doctors to share those results, and educating parents about the true meaning of this information."

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The NC NEXUS study is part of the National Institutes of Health's (NIH) Newborn Sequencing in Genomic Medicine and Public Health (NIIGHT) program. It has been funded by the National Institute of Child Health and Human Development and by the National Institute of Human Genome Research.