Your baby may be born with rosy skin, a loud cry, and a full set of fingers and toes. But just because they appear healthy doesn’t mean that all is well. Before leaving the hospital, every newborn is tested for set of genetic disorders that could be life-threatening or cause large developmental problems if left unchecked.
Newborn screening is a decades-old mandated public health program, established to identify newborns with conditions that require immediate medical action. The federal government requires screening for 31 core conditions, and certain states opt to perform additional screens. However these tests are extremely limited in scope. The screen sometimes miss cases or flag false positives. They also are only able to examine a few dozen disorders, but there are over 4000 known diseases caused by defects in a single gene. With the advance of sequencing technologies, the ability to affordably and comprehensively test for all of those genetic disorders at one time is now possible with whole exome sequencing.
Genomics has the power to revolutionize neonatal medicine as we know it. Expanding newborn screening to the genomic scale allows insight into more than just known immediate dangers, but surveillance and prevention of later-onset disease. A patient’s sequence is vital, life-long health information that has the potential to help in all stages of life. For instance, while it may be unlikely to affect the baby’s early years, parents may want to know as soon as possible that their child has a pathogenic BRCA mutation and higher odds of developing cancer. Sequencing a baby at birth is the most opportune time to begin education about health risks, monitor for disease and enact preventative treatment.
Last fall, the National Institutes of Health (NIH) launched a new program exploring the promise of newborn genome sequencing and how it can be implemented in hospitals across the country. The program is bringing to light the major hurdles of sequencing infants. Among debates related to establishing proper ethical guidelines and addressing privacy concerns (we discussed some our viewpoints on these issues related to sequencing children in a previous article), the chief challenge to widely replacing basic newborn screens with genomic tests is the ability to clinically interpret the massive amount information returned with each test. While the government may be recognizing how useful genomic newborn screens can be, the resources to tackle this are difficult to find outside of a select few specialized neonatal centers.
New Amsterdam Genomics provides the infrastructure for all obstetricians and neonatologists to implement newborn genomic sequencing. We give physicians the tools to both sequence and easily interpret the results with the quick turnaround time necessary to ensure patients get important, life-saving information. Our partnering physicians are ahead of the curve, giving their newborn and neonate patients the best diagnostic available.