Compared to current newborn screenings, genomic sequencing is able to detect many more inherited 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 explained 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.
“Out of all the additional information we can provide through genomic sequencing, which could potentially be hundreds of conditions that might develop, what do parents want to learn, and what information would be most appropriate to provide?” said Laura Milko, PhD, associate director of the Program for Precision Medicine in Health Care at the University of North Carolina School of Medicine.
Originally published May 24, 2019