Genetics and Precision Medicine Department
At King Abdulaziz Medical City in Riyadh, Saudi Arabia, the Genetics and Precision Medicine Department (GPM) are made up of clinical geneticists trained in various medical specialties related to medical genetics practice. In this area, people are treated for metabolic mistakes, connective tissue dysplasia, developmental delay, birth defects, neurometabolic illnesses, single gene disorders and syndromes, skeletal dysplasia, chromosomal problems, autism, and other inherited diseases. Our doctors are trying to figure out what causes many of these illnesses. They use genes and proteins to find out what's wrong, stop it from happening, and treat it. Genetic counselors, metabolic dietitians, nurses, and clinical coordinators help doctors teach, manage, and set up complicated procedures and therapies for patients and their families..
Mission of GPM
The goal is to offer the best genetic and personalized health care services to SANG members, their families, and other eligible patients. To help people get a good education, research, and participate in genetics and precision medicine projects on a national and global scale.
Vision of GPM
We aim to build an excellent center for Genetics and Precision Medicine known worldwide as a service of excellence. Patients will be happier and have a better experience through patient-centered care.
Objectives of GPM
- Primary prevention of inherited genetic illnesses to avoid their spread in the community.
- Empower precision medicine and tailoring the treatment of patients by using genetic or molecular profiling.
- Early detection to improve the outcome in treatable genetic disorders.
- Enhance the quality of life for people and families affected by dysmorphic syndromes and inborn error of metabolism.
- Improve diagnostic yield in our community for rare and frequently novel genetic disorders.
- Reduce morbidity and mortality associated with hereditary diseases and birth abnormalities.
- Conduct translational research to help discover unknown diseases/genes, innovative therapies, and biochemical markers.
Services of GPM
Prenatal Genetic testing
- Chorionic villus sampling (CVS): 1st Trimester
- Amniocentesis: 2nd Trimester
Genetic Counseling
- Pre-diagnosis counselling
- Post-diagnosis counselling
Methodology
All pregnant women are referred to OBGYN/MFM clinic. Ultrasound is performed to determine the gestational age and arrange the type of sampling accordingly (i.e., CVS or amniocentesis). Samples are then sent to Molecular Pathology Lab for culturing and DNA extraction. Finally, the samples are shipped to the reference lab for analysis. The turnaround time is approximately 5 weeks for CVS and 2 weeks for amniocentesis.
The referred cases are counseled about the procedure and the potential results before conducting any test. The parents have the chance to state any concerns and to finalize their decision before the procedure. Couples who are not considering termination of pregnancy are eliminated from the program.
Procedures
Skin Biopsy
Lumbar puncture
Enzyme replacement therapies
Protein restricted diet and other dietary regimens specific for inborn errors of metabolism
Medications for treatment of inborn errors of metabolism.
Precision Medicine Procedure
Gene therapy
Clinical Care Outcomes
- Covering during on-call, inpatient and outpatient metabolic genetics services.
- Treating all types of patient came to ER with metabolic crisis/decompensation.
- To help the undergraduate and postgraduate physicians (Health care workers), to gain the needed knowledge and skills, and to improve the service of metabolic and genetic diseases.