HMC introduces innovative testing to detect disease-causing genetic mutations

The new testing technology enables patients to receive faster and more accurate diagnoses, along with treatment plans tailored to each individual s ge...

The new testing technology enables patients to receive faster and more accurate diagnoses, along with treatment plans tailored to each individual’s genetic profile.

Doha, Qatar: 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 step forward in genetic diagnostics, enabling patients in Qatar to receive faster, more accurate diagnoses and highly personalized 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 analyze the exome. Sophisticated computer software then interprets the data, highlighting possible genetic causes of disease.

Dr. Einas Abdulaziz Al-Kuwari, Chair of DLMP at HMC, 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. This will transform the management of genetic conditions in Qatar and empower physicians to deliver truly personalized care tailored to each patient’s unique genetic profile.”

“The launch of WES at HMC fulfills 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. This achievement is not only scientific but a message of hope for families living with genetic conditions. It symbolizes 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 Dr. Einas Al-Kuwari.