Medical Genetics and Genomics

Medical Genetics and Genomics is the specialty that focuses on diseases caused wholly or partly by changes in genes or chromosomes. Specialists in this field diagnose inherited and genetic conditions, advise families on risks, and guide testing and management across all ages.

What they do: Medical geneticists and genetic counsellors assess patients and families with suspected genetic disorders, interpret genetic and chromosomal tests, explain inheritance patterns and future risks, guide decisions about testing during pregnancy or for other family members, and help plan treatment, surveillance and lifestyle changes based on genetic findings.

Common conditions evaluated: birth defects and multiple congenital anomalies in babies and children, developmental delay, intellectual disability and autism with suspected genetic causes, known or suspected single-gene disorders such as thalassemia, muscular dystrophy or cystic fibrosis, chromosomal abnormalities like Down syndrome, inherited heart, kidney, eye or neurological diseases, hereditary cancer syndromes (such as BRCA-related breast and ovarian cancer), couples with repeated pregnancy loss or infertility with possible genetic factors.

When to visit: if there is a family history of a known genetic disease, if a child has unexplained birth defects, developmental delay or learning problems, if tests suggest a chromosomal abnormality, if you or a close relative developed cancer at an unusually young age or multiple family members have the same cancer, before marriage or pregnancy when both partners come from high-risk communities or families, during pregnancy if screening tests or ultrasound show possible genetic problems, or when planning tests for future children.

Diagnostic and counselling methods: detailed three-generation family history and pedigree drawing, physical examination looking for specific patterns of anomalies, ordering and interpreting tests such as karyotype, chromosomal microarray, single-gene tests, gene panels or whole exome/genome sequencing, coordinating carrier screening for conditions like thalassemia, offering prenatal diagnosis (CVS, amniocentesis) where appropriate, providing clear explanations of results, risks and options, working with paediatricians, obstetricians, oncologists and other specialists to plan care, and offering ongoing genetic counselling and psychosocial support.