Genetics

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Medical Genetics Services

What is Medical Genetics?

Medical genetics is any application of genetic principles to medical practice. This includes studies of inheritance, mapping disease genes, diagnosis and treatment, and genetic counseling. It is estimated that 3-7% of the general population will be diagnosed with a recognized genetic disorder, not including common disorders with genetic components (i.e polygenic disorders), such as cancer, diabetes, heart disease, and psychiatric disorders. Genomic medicine focuses on understanding how variations in an individual’s DNA may affect disease and health. This might lead to new ways to diagnose disease, earlier detection, primary prevention (prenatal diagnosis and preimplantation genetic diagnosis) and identifying genetic predisposition to a particular disease. This knowledge can lead to new approaches to treatment.

 

Specialty clinics at the Genetic and Developmental Medicine Clinic (GDM)

The GDM clinic opened on the 6th December 2011 and is one of the specialty clinics in the hospital. Clinical medical care is provided in the following specialties:

•           General clinical genetics

•           Cancer Genetics

•           Metabolic or biochemical genetics

•           Genetic counseling

•           Developmental genetics

 

Clinical genetics clinic

The genetics clinic provides services to individuals with or at risk of genetic disorders from pre-conception to adulthood. Patients are assessed and a diagnosis is established whenever possible. The arrangement and interpretation of genetic tests to understand the information and the resultant implications to the patient’s health are discussed. Counseling and risk assessment are also offered to ensure that the patient is capable of making informed decisions. Updated information about rare disorders and treatment (if available) or future therapies and upcoming research is also provided. The patient is informed about recommended surveillance for early detection of disease. Importantly, information on resources or support groups is also provided to the individual and their families.

 

There are a variety of reasons why referrals are made to the specialty; these include:

•           Birth defects and major congenital anomalies

•           Dysmorphology

•           Developmental delay and intellectual disability

•           Autism, seizures or neuroregression

•           Skeletal dysplasia and connective tissue disorders.

 

In the current practice, most of the patients are seen as out-patient. However, inpatient consults especially from neonatal ICU are seen commonly. In addition, patients from oncology wards are seen upon request for assessments of hereditary cancer syndromes. Pregnant women are also seen in the genetic clinics for different reasons including abnormal antenatal ultrasound, abnormal amniocentesis results or family history of a genetic condition

 

Metabolic/biochemical clinic

Metabolic diseases are inherited disorders resulting from the absence or deficiency of enzymes. Enzymes play an important role in regulating body metabolism as they convert harmful substances (that accumulate from the breakdown of ingested food) into non-harmful substances. Accumulation of harmful substances in the body or lack of one of the body’s essential elements may affect the brain, liver, kidney or other important organs leading to disability or death. Based on the role and nature of the accumulated or deficient substances, metabolic disorders can have a wide range of presentation and severity. Nearly 15-30% of acute pediatric admissions are for indications related to inborn errors of metabolism, to whose care the department has a major contribution as part of the multidisciplinary care team.

The services provided to patients referred to the metabolic clinic include:

•           Assessment and diagnosis of cases referred from different hospitals in Oman

•           Treatment and regular follow-up of patients

•           Evaluation of family members at risk

•           Genetic counseling and future pre-conception options

•           Dietary management provided by the dietician

 

Genetic counseling clinic

Genetic counseling is a communication process around the occurrence or risk of occurrence of a genetic disorder in a family. Essentially, it involves the interpretation of complex genetic data into information that is easily understood by the client and has the potential to help the patient make and cope with the decisions relating to genetic diagnoses and results of genetic testing. The most powerful part of the genetic counseling session is emotional support and psychological counseling which can help the counselee prepare and deal with their genetic concerns. Should genetic testing be available and appropriate, informed consent and the discussion of other ethical and or legal issues are addressed during the consultation.

 

Genome Diagnostics Laboratories

The department provides diagnostic laboratory services to SQUH and other regional hospitals when clinically judged necessary for some specialized testing. The diagnostic laboratory services span to include the following sections:

  1. Clinical Cytogenetic Laboratory

The Clinical Cytogenetics Laboratory at SQUH performs approximately 800 tests annually. These tests are processed using both conventional cytogenetics (chromosome analysis) and molecular cytogenetic techniques (fluorescence in situ hybridization).

The laboratory offers constitutional chromosome analysis of blood (peripheral blood and umbilical cord)and amniotic fluid. Postnatal molecular cytogenetic tests target common microdeletion syndromes such as Prader-Willi syndrome, DiGeorge syndrome, Williams syndrome and 1p36 deletion syndrome.

Aneuploidy detection of chromosomes 13, 18, 21, X, and Y can be done using fluorescence in situ hybridization (FISH).The laboratory also offers an oncological chromosomal analysis of bone-marrow samples from hematological malignancies. These include acute/chronic lymphocytic leukemia, acute/chronic myeloid leukemia, myelodysplastic syndrome, myeloproliferative disorders, plasma myeloma,lymphoproliferative disorders, different types of lymphomas and other hematological malignancies.

In addition, the laboratory offers a wide range of FISH panels to detect the prognostically relevant abnormalities in the above-mentioned hematological malignancies, which in turn help in the proper management of these patients.

  1. National Tissue Typing Laboratory

National Tissue Typing Laboratory is the only national laboratory that provides tissue typing into the Sultanate of Oman. The laboratory performs an average of 3000 tissue typing diagnostic assessments per year.

  1. Molecular Genetics and Genomic Laboratory (MGGL)

The Molecular Genetics and Genomics Laboratory provides routine services to SQUH and national Hospitals. It receives an average of 1700 specimens for DNA banking or genetic testing.

The biochemical geneticists from the department also provide interpretive services to the Biochemical Genetics Laboratory currently under the administration of the Department of Biochemistry.