Doha, 28 October 2024: The Department of Laboratory Medicine and Pathology (DLMP) at Hamad Medical Corporation (HMC), under the leadership of Dr. Einas Al-Kuwari, DLMP Chair, is marking the 23rd anniversary of molecular genomics services in Qatar. Established in 2001, the Molecular Genetics Laboratory has been pivotal in diagnosing genetic diseases and advancing Qatar’s healthcare system.
Dr. Al-Kuwari acknowledged the significant progress made: “Our molecular genetics services have revolutionized medical diagnostics in Qatar, providing cutting-edge, specialized services crucial to patient care. Over more than two decades, we have remained committed to staying at the forefront of medical advancements, ensuring that our patients access the latest and most effective diagnostic tools.”
This dedication to excellence has transformed how genetic disorders and personalized treatments are approached, setting new standards in the region. The Molecular Genetics Laboratory, one of the most specialized diagnostic facilities, serves thousands of patients annually, offering comprehensive testing for genetic diseases. Accredited by the College of American Pathologists since 2014, the lab ensures high-quality care through rigorous international standards, performing around 55,000 genetic tests annually for approximately 30,000 cases.
The laboratory plays a crucial role in the National Pre-Marital Screening Program, which has been operational since 2009. Providing vital community support by screening for known genetic abnormalities.
Cancer diagnosis and treatment have also been transformed by genomic advancements. Genomic abnormalities, including accumulated mutations, contribute to cancers like melanoma, lung, and colorectal cancer. Precision medicine relies on understanding a patient’s unique genomic profile, combining insights from blood tests, tissue samples, and molecular biomarkers to guide individualized treatment plans. This multi-disciplinary approach ensures that patients receive the most appropriate and effective care.
The Genomics Department is equipped with state-of-the-art technologies and staffed by highly qualified professionals. These experts, including laboratory professionals, clinical scientists, and medical experts, conduct both routine and complex genetic analyses. Utilizing next-generation sequencing, case evaluations, and rigorous quality control measures, they produce internationally recognized medical reports. Their efforts extend beyond HMC, serving patients from other institutions and supporting joint research projects in genomics. Additionally, the department contributes to academic training, aiming to develop national expertise in genomic sciences.
Molecular diagnosis is also applied in prenatal and newborn cases, providing early diagnoses that can lead to timely therapeutic interventions. The lab also supports those with genetic blood disorders, infertility, and recurrent miscarriages, ensuring comprehensive genetic care for various medical needs.
The rapid evolution of precision medicine has made it possible to accurately diagnose genetic disorders and provide targeted gene therapies. Dr. Moza Al-Kowari, Acting Head of Molecular Genetics at HMC, highlighted a key example: "Children suffering from spinal muscular atrophy have been successfully treated using gene therapy, thanks to accurate genetic diagnosis." Most recently we are working on implementing genotyping for precise management for Alzheimer’s Diseases.
The Molecular Genetics Laboratory also supports blood cancer diagnosis and management, offering internationally accredited genomic analyses for blood and marrow referrals. Dr. Susanna Akiki, Head of Hemato-Oncology at HMC, emphasized that genomic technologies are central to their strategy. For example, rapid testing for Chronic Myeloid Leukemia (CML) patients was introduced to identify those eligible for treatment cessation trials. This allows clinical teams to determine, based on genomic data, which patients may safely stop treatment.
The Solid Tumor service, led by Dr. Wafa Abualainin, Clinical Scientist and Head of section, Solid tumors- Diagnostic Genomic Division (DGD) works closely with HMC oncologists, pathologists, and other healthcare professionals to improve cancer patient care. This service focuses on a wide range of cancers, including but not limited to lung, colon, breast, thyroid, pancreatic, and brain cancers. The service speeds up diagnosis and treatment, improving outcomes for adult and pediatric cancer patients. According to Dr. Abualainin, In the last decade, more precise tests for cancers, including blood and solid tumors, have been introduced in alignment with Qatar’s national cancer strategy and is crucial for enhancing the quality of life for cancer patients.
Pharmacogenomics, a relatively new field clinically approved in Qatar, is another significant area of innovation at DLMP. This science aims to tailor medications to patients' genetic profiles, optimizing dosages and minimizing side effects, thereby improving safety and treatment efficacy.
Artificial intelligence (AI) plays a growing role in genomics at HMC. AI tools are employed to analyze complex data, link it to clinical symptoms or initial diagnoses, and generate results rapidly. Specialists in genomics at DLMP are working to further develop AI applications in this field, ensuring that AI-driven diagnostics are accurate and reliable.
As HMC celebrates 23 years of genomic services, the institution’s ongoing commitment to cutting-edge diagnostics, research, and education continues to advance healthcare in Qatar. The Molecular Genetics Laboratory, with its focus on precision medicine, pharmacogenomics, and AI integration, remains a leader in improving patient outcomes and contributing to the global medical community.