The Medical Genetics Program established in 2011 is the main tertiary referral center for genetic diseases in the Kingdom serving a large population of approximately 23 million nationals.

We receive patients from all regions as well as neighboring Gulf countries.

We provide diagnosis and management for a wide range of genetic disorders through 11 weekly genetic/metabolic clinics.

We aim to:
- Improve quality of life for individuals and families impacted by genetic diseases and birth defects
- Improve diagnostic yield for rare and often novel genetic diseases in our population
- Reduce morbidity and mortality from inherited conditions and birth defects
- Work towards understanding pathophysiology behind common genetic diseases in our population to help find new modalities for treatment
- Empower patients and their families to make informed decisions about reproduction through education and focus on primary preventive measures
- Empower staff to conduct high quality research

We are particularly active in diagnosis, management and treatment of Inborn Errors of Metabolism. We have special expertise in treating lysosomal storage disorders with stem cell transplantation and enzyme replacement therapy.

Our monthly cardiovascular genetics clinic provides a unique opportunity for diagnosis, research and prevention of familial cardiovascular diseases in Saudi Arabia.

We have established the first of its kind Adult Metabolic & Genetic Service in the entire region with regular consultant coverage. In addition to accepting new adult patients, as our pediatric patients grow into adults, they are seen in our weekly adult metabolic & genetic clinic.

We are proud to have established the first independent Genetic Counselling Service and prevention genetics program in the Kingdom. Through six weekly genetic counselling clinics, our genetic counsellors provide genetic counselling for a wide range of genetic disorders with focus on primary prevention of genetic disease through intensive family education and preventive reproductive options. We work closely with our perinatology and reproductive medicine team to provide prompt reproductive options to our families including prenatal diagnosis and preimplantation genetic diagnosis.

The Medical Genetics Support Centre (SCOP):

SCOP was created as a collaborative effort between medical genetics physicians and nursing for out patients. The SCOP service is dealing with different medical genetics patients’ needs based on the capacity, resources, and available skill levels of the involved staff. The 5 pillars of Medical Genetics SCOP are:
- Patient centered Care (PCC) Model
- Walk-in Nurse Clinic
- 24/7 Medication Refill
- Patient Direction (Cards & Stickers)
- Metabolic Nurse Clinic

Enzyme Replacement Therapy (ERT) Relocation Program (outside Riyadh): Lysosomal Storage Diseases are a group of diseases caused by enzymatic defects in the lysosome. Some are treated with recombinant enzyme given intravenously every week or two in a hospital setting. The program aims at relocating patients to their respective areas and to home for patients living in Riyadh. As of now, 13 centers across Saudi Arabia are trained to provide ERT.

For Medical Professionals:

  • The fellowship program in Clinical Genetics & Metabolic Diseases at KFSHRC is designed to provide strong clinical training. It is the first and the most senior program in the entire region starting over 15 years ago. The fellowship program is structured to enable fellows to obtain an in-depth and focused experience in the major areas of medical genetics. The program is approved by the Saudi Commission for Health Specialties and recognized as a “Saudi Board in Clinical Genetics and Metabolic Diseases”.
  • Genetic Counselling Master’s program with Alfaisal University. In addition to training physicians in the field of Medical Clinical Genetics, the need to train para-clinical staff in specific areas of genetics has increased sharply because of the complexity, accelerated advances and widespread influence of genetics in almost every health related issue. Genetic counseling has been one of the major programs that were developed in many countries across the globe but more specifically in North America. Genetic counseling is a process of communicating medical and scientific information to an individual or family with a genetic condition or birth defect. One of the main objectives is to assist families and individuals to understand complex genetic and medical information in the simplest way possible. Genetic counselors are health professionals with specialized training and experience in the area of Medical Genetics and Counseling. We have long realized the importance of this specialty and therefore have initially established a Postgraduate Diploma in Genetic counselling in 2005. Recently this has evolved into a Genetic Counselling Master’s program in affiliation with Alfaisal University. The program officially launched in September 2014.

Professional and Public Domain Education:

Our clinical and genetic counselling service has been active in preparing and disseminating information to health care providers, patients and their families. In this regard, a permanent webpage on hospital portal has been place.

The page contains evidence based medical information on emergency management of common metabolic disorders and over 40 educational brochures for various genetic diseases.

The Department research activities focus on areas with immediate and potential benefit for the patients and their families. With this is mind, we are very active in translational research for a wide range of genetic disorders through IRB approved projects. These include but not limited to cardiovascular genetic diseases, mitochondrial, liver and skin genetic disorders, in addition to lysosomal, neurodevelopmental and hereditary syndromic and non-syndromic deafness. Furthermore, we are a center for international clinical trials in various metabolic disorders. More information can be obtained on website. In 2014, in addition to many abstracts and presentations in scientific meeting, nineteen papers were published by the department in peer reviewed journals.