About My Health Careers Internship MedBlogs Contact us
Medindia LOGIN REGISTER
Advertisement

Genome Sequencing Can Help In Rapid Diagnosis in Critically Ill Infants

by Julia Samuel on October 23, 2017 at 1:39 PM
Font : A-A+

Genome Sequencing Can Help In Rapid Diagnosis in Critically Ill Infants

Genetic diagnosis might help inform treatment decisions and disease management for seriously ill neonates in the neonatal intensive care unit (NICU).

Rapid whole-genome sequencing (WGS) of acutely ill neonatal intensive care unit (NICU) patients in the first few days of life yields clinically useful diagnoses in many cases, and results in lower aggregate costs than the current standard of care, according to findings presented at the American Society of Human Genetics (ASHG) 2017 Annual Meeting in Orlando, Fla.

Advertisement


Shimul Chowdhury, PhD, FACMG, Clinical Laboratory Director at the Rady Children's Institute for Genomic Medicine, and his colleagues focused their analysis on a broad swath of NICU patients for whom a genetic diagnosis might help inform treatment decisions and disease management. They studied the clinical utility and cost-effectiveness of sequencing infants and their parents.

"Newborns often don't fit traditional methods of diagnosis, as they may present with non-specific symptoms or display different signs from older children," said Dr. Chowdhury.
Advertisement

In many such cases, he explained, sequencing can pinpoint the cause of illness, yielding a diagnosis that allows doctors to modify inpatient treatment and resulting in dramatically improved medical outcomes in both the short and long term.

Because of the potential for early intervention and immediate adjustment in care, the researchers used a rapid WGS procedure that took three to seven days from sample collection to delivering results to patients' families. The process can be further accelerated if medically necessary. In contrast, most clinical diagnostic tests take four to six weeks.

In 34 (35%) of the 98 patients enrolled in the study, WGS yielded a genetic diagnosis, and in 28 (80%) of those patients, that diagnosis led to changes in medical management, such as the use of medications targeted to the underlying disease, avoidance of unnecessary surgery, and guidance about palliative care.

Cost-effectiveness analyses are ongoing, but among the first 42 infants sequenced, the researchers calculated a $1.3 million net cost savings for that hospitalization versus the current standard of care.

"The cost savings were especially striking, given that sequencing costs are still high - even with those costs, we found that rapid WGS was not just clinically useful but economically prudent," Dr. Chowdhury said. "Given these benefits, we'd eventually like to see rapid WGS as a reimbursable first-tier test for a proportion of infants in the NICU."

Dr. Chowdhury noted the important contribution of genetics research to their progress so far. "Translational research leading to improvements in the speed and accuracy of sequencing tests is so important to our work, and has a real impact on patients and their families," he said.

Source: Eurekalert
Advertisement

Advertisement
News A-Z
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Advertisement
News Category
What's New on Medindia
Green Mediterranean Diet may Help Repair Age-Related Brain Damages
Cervical Cancer Awareness Month 2022
Ultra-Low-Fat Diet
View all

Medindia Newsletters Subscribe to our Free Newsletters!
Terms & Conditions and Privacy Policy.


Recommended Reading
First-Ever Next Generation Sequencing Test to Detect HIV Drug Resistance
Scientists create new sequencing test that can detect HIV drug resistance more accurately than ......
Emerging Role of Genetic Testing in Diagnosis of Early-Life Epilepsies
DNA sequencing yields more data for determining etiology and diagnosis of early life epilepsies....
FDA Approves First Magnetic Resonance Imaging (MRI) Device for Neonates
The Embrace Neonatal MRI System is the first magnetic resonance imaging device cleared by the FDA .....
Erythroblastosis Fetalis
Erythroblastosis fetalis occurs due to Rh incompatibility between the mother and the fetus, ......

Disclaimer - All information and content on this site are for information and educational purposes only. The information should not be used for either diagnosis or treatment or both for any health related problem or disease. Always seek the advice of a qualified physician for medical diagnosis and treatment. Full Disclaimer

© All Rights Reserved 1997 - 2022

This site uses cookies to deliver our services. By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use
open close
CONSULT A DOCTOR
I have read and I do accept terms of use - Telemedicine

Advantage Medindia: FREE subscription for 'Personalised Health & Wellness website with consultation' (Value Rs.300/-)