Genetic and Genomic Medicine

Personalized Care for patients with genetic disorders

The Division of Genetic and Genomic Medicine at Sidra Medicine provides comprehensive genetic services including clinical evaluation and risk assessment; genetic counselling; diagnosis and the advanced management for a variety of genetic disorders in patients of all ages. The division also offers ongoing multidisciplinary care for patients with genetic conditions and helps them access resources and treatment programs personalized to their condition.

The division entails the diagnosis, treatment, prevention and research in genetic and genomic medicine with respect to precision medicine. It plays an important role in determining the risks of developing certain genetic diseases as well as screening and preventive treatment.

The service is a joint program provided in partnership with Hamad Medical Corporation (HMC). Patients under the age of 18 years, are seen at Sidra Medicine while those the rest at seen at HMC.

Conditions treated:

Birth defects
Growth problems
Intellectual Disability and Developmental Delay
Chromosomal disorders
Microdeletion/duplication syndromes
Craniofacial disorders
Neurocutaneous syndromes
Neuro-Muscular disorders
Spinal Muscular Atrophy (SMA)
Disorders of Amino Acids
Disorders of Organic Acids
Disorders of Hyperammonemia and Urea Cycle
Disorders of Fatty Acid Oxidation
Peroxisomal Disorders
Lysosomal Storage Disorders
Mitochondrial Disorders
Neurometabolic Disorders
Methionine and Homocysteine Disorders
IEMs of vitamins and trace elements

Inherited Connective Tissue disorders
Inherited Bone Disorders/Skeletal Dysplasia
Inherited skin (dermatological) disorders
Inherited Hearing Loss
Inherited Cardiovascular disorders/Cardiomyopathies
Inherited eye Disorders
Infertility and Disorders of Sex Development
Inherited Ciliopathies
Inherited Kidney and Renal Malformation
Inherited liver disorders
Inherited Cholesterol and Lipid Metabolism
Maternal related disorders: Advance maternal age (35 years and above).
- Positive personal/family history of any genetic condition/disorder with or without a known cytogenetic/molecular diagnosis
- Abnormal fetal ultrasound scans.
- Abnormal prenatal screening results.
- Abnormal prenatal diagnosis results.
- History of exposure to known teratogens, such as congenital infections (TORCH), medications, or radiation.
- Maternal diseases known to affect the fetus.

Expertise:

Clinical Geneticists
Biochemical Geneticists
Prenatal Geneticists
Genetic Counsellors
Metabolic Dieticians
Sub-specialty Genetic/Metabolic Nursing
Genetic Databases
Phlebotomy Services (Satellite lab)
Research Services

This service works seamlessly with obstetricians, maternal-fetal medicine sub-specialists, neonatologists, pediatricians and internal medicine specialists to provide a family-based service.

Services:

Diagnostic services and testing
Genetic Counselling: We provide genetic counseling for all our patients, including
Positive Carrier Cases identified through the Qatar National Premarital Genetic Screening Program
And those undergoing Preimplantation Genetic Diagnosis (PGD) services
Prenatal Genetic Diagnosis: Prenatal genetic testing and diagnosis offers information about whether a fetus has certain genetic disorders
Newborn Screening Program: The genetic services team is responsible for the management of all positive cases identified by the Qatar National Expanded Metabolic Newborn Screening Program
Inborn Errors of Metabolism (IEM): We also treat metabolic genetic conditions with diet modification and pharmacological therapy for Inborn Errors of Metabolism.
Research: When and where appropriate, the service identifies research studies for which patients may qualify, to better understand their conditions or to provide additional therapeutic services. In collaboration with our research division, we also provide access to the latest testing techniques, when medically appropriate, such as whole-exome sequencing, to identify genetic variants