Medical genetics

The study find that the Newborn screening is require in the U.S. ; and differs slightly depending on which state you live in. For the most part; therefore it’s done before a newborn baby leaves the hospital and includes a blood test that screens for 30-50 serious health problems that usually arise in infancy or childhood; and could hinder normal development.

The Newborn screening

Compared to current newborn screenings; genomic sequencing is able to detect many more inherit conditions. But there’s also more to the results than just testing positive or negative; and with current commercially available products; those results and any caveats that exist may not be fully explain to the patient.

Because of this; there’s a push in the scientific community to determine how genomic sequencing should be implemented as a part of newborn screening before the technology is available on a large scale. Milko is the first author of a study publish in The Journal of Pediatrics that describes a method of sorting conditions to help categorize the types of results to be disclose in newborn genomic sequencing.

The scientific community

Milko and her colleagues identified several hundred conditions that helpful to report to parents. This study is part of a larger UNC School of Medicine project called North Carolina Newborn Exome Sequencing for Universal Screening (NC NEXUS) led by Cynthia M. Powell, MD, and Jonathan S. Berg, MD, PhD.

Current newborn screening standards were develop by the Health Resources Services Administration (HRSA) in their Recommended Uniform Screening Panel. Milko’s study used this standard as a comparison tool in developing their sorting method. “The conditions that are currently screen for in newborns are those that are more effectively treated if identified early; before symptoms develop,” Milko said. “We developed a sorting system that categorizes information in much the same way.”

Several hundred conditions

Categorizing the information is important; because results from genomic sequencing include a lot of gray area, and some pieces of information are more helpful than others. We have around 20,000 genes and they all play roles in how our bodies grow, develop, and function. Changes in these genes; also called variants, might interfere with the gene’s normal role and could lead to certain health conditions.

Genomic sequencing is able to identify a person’s genetic variants. Most of them are harmless or have no known health implications, but some variants might be related to rare genetic conditions. The variants that are pinpoint by genomic sequencing are an indication that a condition are develop, but do not necessarily identify when it will develop, or how severe the condition might be.