Doha, Qatar: Sidra Medicine, a member of the Qatar Foundation (QF), plans to launch an ambitious genomic screening programme for newborns in the country.

The new genomic screening programme for newborn babies will help in the diagnosis, treatment and prevention of genetic disorders, as well as aid research in genetic and genomic medicine for precision medicine, said Dr. Ammira Al Shabeeb Akil, lead principal investigator and head of the Precision Medicine for Diabetes Prevention lab at Sidra Medicine.

Speaking to The Peninsula, she said the genomic sequencing for screening programme will kick off with an initial research pilot phase, laying the cornerstone for broader initiatives harnessing genomics to assess genetic disease risks and preventive measures. It will be done in partnership with the Women’s Wellness Research Center (WWRC) at Hamad Medical Corporation (HMC) and the Qatar Genome Program.

Dr. Akil will be discussing ‘Newborn genomic sequencing for screening as a critical genetic window for monogenic and polygenic diseases’ at Sidra Medicine’s upcoming Women’s Health Conference on October 27 and 28.

Genome sequencing involves unravelling an organism’s entire DNA, encompassing all its genes. Genomic and genetic medicine serves as the vital link connecting individuals with genetic disorders to tailored treatments and support for managing their conditions.

Neurology, metabolic, and hematology-related genetic disorders are more common among children in Qatar. Sidra Medicine works closely with researchers to look into a precision medicine led approach to treat such conditions.

Dr. Akil emphasised that Sidra Medicine, as a leading children’s hospital and a research institution specialising in genomics and genetic medicine, offers all the necessary resources to launch the new genomic screening programme.

“We have the infrastructure needed to execute the programme. In fact, our neonatal intensive care unit is already screening babies born with diseases to understand the genetic condition of their illnesses,” Dr. Akil added.

Dr. Akil explained the difference between the standard newborn screening which typically involves the analysis of a few specific markers in a baby’s blood, aiming to identify a select group of well-known, treatable genetic disorders.

In contrast, genomic screening goes beyond these traditional tests. It examines a baby’s entire genetic makeup, searching for a wide range of genetic variations and potential risk factors for various diseases.

Genomic screening also provides a more comprehensive and personalised view of a child’s genetic health, enabling early detection of a broader spectrum of conditions and allowing for tailored prevention or treatment plans.

Dr. Akil said that the two-year pilot project aims to recruit approximately 2,000 newborns born at Sidra Medicine as well as WWRC. Parental consent will be required for their babies to enroll in this research study. “Such studies and programmes will not be possible without the support of our healthcare partner the Women’s Wellness Research Center and also the parents. We want the parents to feel assured that this pilot study will have a meaningful impact in shaping their babies’ treatment and care programmes. It will also contribute towards the health and wellbeing of future generations," he said.

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