GESTIÓN EN SALUD PÚBLICA: BioEdge: Should all newborns receive genome sequencing?

lunes, 24 de septiembre de 2018

BioEdge: Should all newborns receive genome sequencing?

BioEdge: Should all newborns receive genome sequencing?

Bioedge

Should all newborns receive genome sequencing?

by Michael Cook | 21 Sep 2018 |

As the cost of genome sequencing decreases, doctors are debating whether all newborns should be sequenced, facilitating a lifetime of personalized medical care.

A report from The Hastings Center, The Ethics of Sequencing Newborns: Recommendations and Reflections, examines the pros and cons. It concludes that while sequencing the genomes of some infants may sometimes be appropriate, genome-wide sequencing of all newborns should not be pursued at this time. Health professionals should tell parents not 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," says Josephine Johnston, director of research of The Hastings Center.

The recommendations include:

Targeted or genomic sequencing can be used by clinicians to assist in the diagnosis of a symptomatic 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 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. 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.
Integrating targeted genome sequencing into newborn screening programs may be appropriate when it is the best way to identify a condition that meets existing screening criteria--it affects a newborn's health, programs are able to fund screening and follow-up care, and effective treatments are available. Targeted genome sequencing may also be appropriate to confirm a diagnosis and provide additional prognostic information after initial screening results.
Whole-genome or targeted sequencing should not be integrated into routine infant primary care. In healthy babies, genome sequencing would likely generate undue anxiety and require significant health resources for interpretation and follow-up.
Health professionals should recommend against parents seeking direct-to-consumer genome sequencing for either diagnosis or screening of their newborn. This conflicts with clinical and professional guidelines, which limit testing to clinical contexts and for conditions that manifest during childhood. Most testing services also lack sufficient consultation and follow-up to assure accurate interpretation of results.

"Sequencing the genome of every newborn could cause parents to worry needlessly about their healthy baby," says Koenig.

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