As the cost of genome sequencing decreases, researchers and clinicians are debating whether all newborns should be sequenced at birth, facilitating a lifetime of personalised medical care. Researchers at The Hastings Center stated that health professionals should recommend parents to use direct-to-consumer genetic sequencing to diagnose or screen their newborns.
“Genomics is a powerful tool, but the results it returns are still not fully understood and have not been proven to advance health outside of very specific clinical situations. The recommendations embrace the use of genomics to aid in the diagnosis of sick newborns, but they draw a sharp distinction between that kind of focused clinical use and population screening,” explained researcher Josephine Johnston.
Targeted or genomic sequencing can be used by clinicians to assist in the diagnosis of asymptomatic newborn. Sequencing these newborns may end the search for a diagnosis, informing medical management. Genome-wide sequencing should not be implemented as a universal, public health screening tool for newborns. Sequencing the entire genome may result in the return of genetic data of unknown or uncertain significance and may not yield actionable results.
Results can generate unnecessary distress and require health resources for unneeded monitoring. And the cost of universal genome-wide sequencing would stretch the operating expenses of state-funded newborn screening programs, undermining the effectiveness of their operations.