The pilot study will utilise the Qatar-microarray Chip, known as Q-Chip, on umbilical cord blood post-delivery.
The Hamad Medical Corporation (HMC) and Heidelberg University Hospital (HUH) in Germany have collaborated to introduce a newborn screening program that detects hidden genetic diseases before clinical presentation.
This is done by measuring certain biochemical metabolites, which are small molecules found in the body that are an integral part of metabolism.
As the field of genomic medicine progresses beyond current limits, it is now feasible to use sophisticated genomic tools to boost newborn screening to detect hidden genetic diseases that go unnoticed by the current newborn screening.
“Our goal is to develop a novel and innovative screening tool to detect genetic disorders before clinical presentation, particularly those genetic disorders that cannot be detected by the standard newborn screening tools available currently,” said Dr Saad Alkaabi, chairman of the rare disease committee and chairman of the international medical affairs office at HMC.
Assistant chair of the rare disease committee and principal investigator of the research study Dr Reem Alsulaiman spotlighted the potential impact of the new tool saying that “this new tool of genomic newborn screening will lead towards ensuring better disease prevention through early diagnosis and treatment of more complex and rare genetic diseases.”
The program “will transform the traditional newborn screening into an advanced comprehensive program to be more accurate, rapid and cost-effective in detecting diseases and reducing the morbidity and mortality of infants.”
The pilot study will utilise the Qatar-microarray Chip, known as Q-Chip, on umbilical cord blood post-delivery.
Dr Asmaa Althani, executive director of the Precision Medicine Institute, explained that “this chip contains thousands of pathogenic genetic variants that are common in the population of Qatar, however, in this study, we tailored Q-Chip to screen for a selected number of genetic treatable diseases for genomic newborn screening.
The administration of the Q-Chip is supported by the Qatar Biobank and Qatar Genome Program (QGP) and the Diagnostic Genomic Division (DGD) at HMC, she detailed.
In addition to the Q-Chip, special genetic testing for Spinal Muscular Atrophy (SMA), a leading cause of infant mortality, will be conducted for early diagnosis and intervention.
Chief of the genomic and genetic medicine division Dr Tawfeg Ben Omran emphasised the approach: “The SMA testing will be done in addition to the Q-Chip and the standard metabolic newborn screening for better detection of several metabolic and treatable genetic diseases.”
Dr Hilal Al Rifai, CEO and Medical Director of HMC’s Women’s Wellness and Research Center, underlined the success of the current national newborn screening program, making HMC a pioneer in the Middle East.
For his part, the Head of the Newborn Screening Unit Dr Ghassan Abdoh anticipated significant benefits as “incorporating genomic sequencing into newborn screening program at the population scale, is anticipated to help substantially expand the early detection of treatable metabolic and rare genetic diseases.”
“As these are often the leading cause of infant mortality and lifelong disability, this pilot study holds the promise of providing valuable data that can be used to aid patients and their families.”
