KFSH&RC Rapid Whole-Genome Sequencing service identifies rare, genetic disorders

31 Oct 2023 04:17pm
Image for illustrative purposes only. – FILE PIX
Image for illustrative purposes only. – FILE PIX

KUALA LUMPUR - In a groundbreaking development for the Middle East, King Faisal Specialist Hospital and Research Centre (KFSH&RC) has introduced a service called Rapid Whole-Genome Sequencing (rWGS) as part of its healthcare solutions.

This service is designed to help doctors diagnose rare and genetic disorders, particularly in critically ill newborns, who require fast and precise identification of their conditions, according to a statement.

The rWGS service is invaluable for newborns with rare diseases, as it helps them avoid the often lengthy process of tests and treatments that can stretch for months or even years without a precise diagnosis.

This increases the chances of survival and reduces the overall healthcare cost by minimising hospital admissions, unnecessary tests, and medical care, on top of that, the hospital has reduced the time required for this genetic testing from the typical two-month duration to less than 35 hours.

Response time is paramount when planning healthcare for critically ill newborns, and swift delivery of test results ensures a prompt and tailored medical response, preventing delays that could otherwise lead to worsening the patient's condition or even death.

As part of its participation in the Global Health Summit, where KFSH&RC plays a vital role as a strategic healthcare partner, the hospital shares details about the rWGS service at the event.

The hospital's cutting-edge capabilities include analysing up to 99 per cent of deoxyribonucleic acid (DNA) sequences from patient blood samples, along with several innovative healthcare solutions.

The comprehensive genetic composition examination involves a streamlined four-step process in which the DNA is first broken down into manageable segments. Then, it is encoded with a barcode-like symbol for easy identification, similar to tracking products in a store.

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Later, the examination itself is conducted using specialised equipment. Finally, advanced computer systems and software compare these sequences, identifying differences in DNA sequences and pinpointing the genetic mutations responsible for diseases. - BERNAMA