Targeted, whole-exome or whole-genome sequencing can assist in diagnosis of symptomatic infants
THURSDAY, Sept. 13, 2018 (HealthDay News) — Newborns should not undergo universal sequencing at birth, according to a report published in the July/August issue of The Hasting Center Report.
Josephine Johnston, J.D., from The Hastings Center in Garrison, N.Y., and colleagues address ethical and other considerations surrounding sequencing of newborns at birth, which experts claim may facilitate a lifetime of personalized medical care.
The authors note that targeted or whole-exome or whole-genome sequencing can be used to assist in the diagnosis of symptomatic newborns, with parental permission and access to genetic counseling and follow-up. Given the limited usefulness of sequencing in asymptomatic populations, concerns regarding storage of results, potential discriminatory or insurance uses, and the potential for results causing unnecessary distress, genome‐wide sequencing should not be used as a screening tool. Whole-exome or whole-genome sequencing should not be used as a sole screen for newborns; targeted sequencing can be used as a secondary test, or as a primary test, where sequencing is the more appropriate or only method for screening. Direct-to-consumer sequencing should not be used for diagnosis or screening of 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,” Johnston said in a statement. “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.”
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