As the cost of genome sequencing falls, doctors and researchers are debating whether screening at birth would help plan personalised medical care and be a useful public health measure. But experts at the US non-profit organisation, the Hastings Centre in Garrison, New York, are urging that the use of this technology in newborns should be 'nuanced and attentive to context'.
While it is too early to screen every baby's genome, they added that there could be 'considerable benefit in using targeted sequencing to screen for or detect specific conditions'.
The report is unequivocal about universal screening. It recommends: 'Genome-wide sequencing should not be implemented as a universal, public health screening tool in newborns. Sequencing the entire genome may result in the return of genetic data of unknown or uncertain significance and may not yield actionable results.'
'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,' said Josephine Johnston, director of research at the Hastings Centre, and co-editor of the report. '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.'
The report also advised health professionals to warn parents against using direct-to-consumer (DTC) genome testing on their newborns. It said: 'The use of DTC genomic testing in children conflicts with clinical and professional guidelines, which limit testing to clinical contexts and for conditions that manifest during childhood.'
'Sequencing the genome of every newborn could cause parents to worry needlessly about their healthy baby,' added co-editor Professor Barbara Koenig at the University of California, San Francisco and a Hastings Centre Fellow.
The document is the result of a four-year interdisciplinary investigation funded by the US National Institutes of Health.