Medical Genetics
Established in 2011, the Medical Genetics Program is the main tertiary referral center for genetic diseases in the country. We provide diagnosis and treatment for a wide range of genetic disorders. We specialize in treating lysosomal storage disorders with stem cell transplantation and enzyme replacement therapy. We have established the first independent genetic counseling service and prevention genetics program.
Mission:
The main mission of the Department of Medical Genetics (MGD) at KFSH&RC is to provide the e people of Saudi Arabia with the highest quality of medical care through comprehensive management and prevention of genetic problems of all age groups (children and adults), males, and females in addition to fetuses affected or at risk of genetic conditions. The mandate is a well-coordinated and well- balanced program of clinical practice, education and research.
Scope of Services:
- 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.
- Through six weekly genetic counselling clinics, our genetic counsellors (in the Genetic Counselling Service and prevention genetics program) 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 main services of the Medical Genetics Program are:
1- Pediatric Clinical Genetics and Clinical Biochemical Genetics (Inborn Error s of Metabolism) service: A team of physicians deliver inpatient and outpatient care to patients with wide range of genetic conditions that include chromosomal, single gene, and multifactorial disorders. Examples include patients with dysmorphic and non-dysmorphic syndromes, multiple congenital anomalies, prenatal exposure to environment factors, single gene non-metabolic and metabolic disorders. Emphasis is to combine personalized genetic diagnosis and treatment for our patient population.
2- Adult Clinical Genetics and Clinical Biochemical Genetics (Inborn Errors of Metabolism) service: We deliver inpatient and outpatient care to patients with metabolic and genetic disorders. We are the first in the region to establish this service. Emphasis is to combine personalized genetic diagnosis and treatment for our patient population.
3- Combined Cardiovascular Genetics clinic: This monthly multidisciplinary clinic provides patients with familial cardiovascular diseases with:
- clinical diagnosis
- genetic testing
- genetic counseling
The cases are accepted as a consultation from geneticists and cardiologists within KFSH&RC as well as from outside the institution.
4- Combined Prenatal Genetics Clinic: This weekly clinic with perinatology service examines couples with family history of genetic disorders prior to or during pregnancy to assess risk and provide best advice regarding the pregnancy and expected outcomes.
5- Genetic Metabolic Bone Diseases Clinic: This monthly clinic is a multidisciplinary clinic staffed by Consultant Geneticist, Endocrinologist, Orthopedic Surgeon and Physiotherapist. The clinic caters for patients with genetic and metabolic bone disorders including OsteogenesisImperfecta, Skeletal Dysplasia, Lysosomal Storage Diseases with prominent skeletal abnormalities and other related disorders.
6- Inpatient and Outpatients Consultation service: Through an active consultation service, the department provides its services to departments such as Cardiology, Neurology, Pediatrics, Internal Medicine, Orthopedics and ENT to address issues relevant to patients with genetic diseases seen by these departments. Through this collaboration, the department participates in multidisciplinary care in the hospital. On consultation basis, the department also evaluates patients with inherited forms of cancer, and genetic predisposition to cancer.
7- Reproductive Genetic Counselling Service: Genetic counsellors provide counselling to patients, couples and families with or at risk of genetic conditions. Counsellors provide the recurrent risk in future pregnancies and various options to prevent or reduce the risk of recurrence of genetic diseases. We emphasize on providing personalized diagnosis and counselling.
8- Cancer Genetic Counselling Service: Families suspected to have familial cancer are evaluated to provide diagnosis, risk assessment and guidance regarding surveillance and reproductive options. We emphasize on providing personalized diagnosis and counselling.
9- Newborn Screening for Inborn Errors of Metabolism and Genetic Disorders: we provide advice on disorders to be included in the National New born Screening program, help in interpretation of results of screening, provide consultation service to pediatric department regarding abnormal results and actively manage newborns confirmed with a metabolic disorder.
10- Outreach & Virtual Clinics: The department holds yearly outreach clinics in collaboration with Health Outreach Services (HOS) whereby consultants travel to different regions of the Kingdom to hold a full day clinic and provide diagnostic and management advice to local treating physicians. KFSH&RC patients living in these areas are also seen thereby reducing the need for their visit to Riyadh. Virtual clinics through HOS were introduced in 2016 using telemedicine.
11- Genomic Medicine Service: This service is recently introduced to evaluate families with very rare genetic diseases where no clear diagnosis is attained even after extensive testing. Genomic data and Next Generation Sequencing results are analyzed in depth and compared to matched phenotypes in order to reach a diagnosis.
12- Medical Genetics Support Centre for Out Patients (SCOP): Patients seen in MGD clinics often require multidisciplinary care, require controlled and uncommon medication prescriptions, and have challenging medical issues like Gtubes/NGTs/ Central IV catheters. Medical Genetics Support Center for Out-Patient (SCOP) offers convenient access to a range of patients' needs. Patients do not need an appointment.
13- 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.
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.
Medical Genetics – Training Programs:
- The fellowship program in Clinical Genetics & Metabolic Diseases at KFSH&RC 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 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. 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 in 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 ClinicalTrails.gov website.
