Next-Generation Sequencing Can ID Rare Diseases in Newborns

This article originally appeared here.
Share this content:
Next-Generation Sequencing Can ID Rare Diseases in Newborns
Next-Generation Sequencing Can ID Rare Diseases in Newborns

TUESDAY, May 31, 2016 (HealthDay News) -- Next-generation sequencing may greatly improve a physician's ability to quickly diagnose rare genetic diseases in newborns, according to research published online May 30 in CMAJ, the journal of the Canadian Medical Association.

The test used includes all of the 4,813 genes currently known to be linked with rare diseases. David Dyment, M.D., of the Children's Hospital of Eastern Ontario in Ottawa, and colleagues assessed the diagnostic potential in 20 newborns being treated in neonatal intensive care units (NICUs) for a wide range of medical issues. Half of the infants had neurological symptoms, such as seizures or hypotonia.

The gene sequencing panel provided a molecular diagnosis for eight of the infants (40 percent). For two of the patients, their diagnoses directly affected their medical care, the study authors said.

"Next-generation sequencing has the potential to transform the practice of clinical genetics rapidly," Dyment and colleagues write. "In particular, newborns admitted to the NICU with rare and complex diseases may benefit substantially from a timely molecular diagnosis through next-generation sequencing."

Abstract
Full Text
Editorial (subscription or payment may be required)

Share this content:

is free, fast, and customized just for you!

Already a member?

Sign In Now »


Sign up for myCME e-newsletters


Drug Lookup

Browse drugs by: BrandGenericDisease

Trending Activities

All Professions

More in Home

Multidrug-Resistant Bacteria Found in Hospital Sinks

Multidrug-Resistant Bacteria Found in Hospital Sinks

Drug-resistant bacteria can colonize in drains, spread to sinks, and eventually reach patients

AAP Addresses Rising Risks to Youth From New Marijuana Laws

AAP Addresses Rising Risks to Youth From New ...

Legalization in many states may lead parents, children to think the drug is benign

AAP Offers Guidance for Treating Victims of Sexual Assault

AAP Offers Guidance for Treating Victims of Sexual ...

Physicians need to be comfortable screening for it, offering additional help if needed

is free, fast, and customized just for you!

Already a member?

Sign In Now »