Tuesday, 02 January 2024 12:17 GMT

HMC Launches Whole Exome Sequencing To Advance Genetic Care


(MENAFN- Gulf Times) In a significant step to further strengthen Qatar's position in healthcare innovation, the Department of Laboratory Medicine and Pathology (DLMP) at Hamad Medical Corporation (HMC) has officially launched Whole Exome Sequencing (WES) testing.

This groundbreaking initiative represents a major advance in genetic diagnostics, enabling patients in Qatar to receive faster, more accurate diagnoses and highly personalised treatment plans tailored to each individual's genetic profile.

This new testing technology will benefit patients with genetic disorders, both adults and children, as well as those with certain types of cancer.

Previously, blood samples for these patients had to be sent abroad for testing, a process that often required significant time before results could be obtained.

WES is a cutting-edge genetic test that focuses on the exome, the regions of DNA responsible for coding proteins. Since most disease-causing mutations are found in these regions, WES provides powerful insights into unexplained illnesses, inherited conditions, and genetic risks affecting families.

To conduct the test, a blood sample is collected, DNA is extracted, and advanced sequencing technology is used to analyse the exome. Sophisticated computer software then interprets the data, highlighting possible genetic causes of disease.

Chair of DLMP at HMC, Dr Einas Abdulaziz al-Kuwari, stated: "This initiative underscores our commitment to integrating genomic medicine into patient care. By harnessing advanced sequencing technologies, we aim to provide more precise and timely diagnoses."

She added: "This will transform the management of genetic conditions in Qatar and empower physicians to deliver truly personalised care tailored to each patient's unique genetic profile."

"The launch of WES at HMC fulfils a long-held vision to bring genomic medicine into routine clinical care in Qatar. We are no longer dependent on external laboratories; today we can deliver advanced diagnostics right here in-house," she added.

Al-Kuwari stressed: "This achievement is not only scientific but a message of hope for families living with genetic conditions. It symbolises Qatar's determination to stand at the forefront of precision medicine, building a healthcare system that is both world-class and compassionate."

"And this is only the beginning. We will continue to advance until every patient in Qatar has access to the most innovative care possible,” added al-Kuwari.

Under the leadership of Dr Moza Khalifa al-Kuwari, and supported by a highly skilled team of national specialised laboratory staff, the Molecular Genetics Laboratory within DLMP's Diagnostic Genomic Division (DGD) spearheads the introduction of WES testing.

The process has been validated according to international standards, including those of the American College of Medical Genetics and Genomics (ACMG) and the College of American Pathologists (CAP).

To ensure seamless integration, DLMP has invested in robust data infrastructure, including secure high-capacity servers, advanced computing power, and state-of-the-art cybersecurity, to safeguard sensitive information and enable rapid data analysis.

The introduction of this advanced service will also help reduce the need to send patient samples abroad for genetic testing.

Established in 2001, the Molecular Genetics Laboratory is among the region's most advanced facilities, performing approximately 30,000 genetic tests annually and supporting national screening programmes, including premarital and newborn screening. Accredited by the College of American Pathologists (CAP) since 2014, the laboratory continues to uphold the highest international standards.

With the introduction of WES, HMC consolidates its leadership in genomic medicine, delivering cutting-edge care for patients while strengthening Qatar's healthcare infrastructure. healthcare innovation DLMP Hamad Medical Corporation WES

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