Clinical Genetics is a medical specialty which provides a diagnostic service and genetic counselling for individuals or families with, or at risk of, conditions which may have a genetic basis. Genetic conditions which can affect our health are sometimes passed on through our genes and chromosomes. Thus, clinical genetics service helps evaluating on how these inherited conditions passing on in families.
The examples of conditions seen in clinical genetics service include:
- Chromosomal abnormalities, which cause birth defects, mental retardation and/or reproductive problems.
- Single gene disorders such as hemoglobinopathy, cystic fibrosis, muscular dystrophy, Huntington’s disease, spinocerebellar ataxia, spinal muscular atrophy, hereditary neuropathy, inherited metabolic disorders and etc.
- Familial cancer and pre-cancer syndromes such as inherited breast or colorectal cancer, multiple endocrine neoplasia, neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome and etc.
- Birth defects with a genetic component such as neural tube defects and cleft lip and palate.
- Childhood neurodevelopmental conditions with unknown cause such as developmental delay, intellectual disability, autism, epilepsy.
- Rare conditions with unidentified cause
- Common disease with strong family history such as coronary artery disease, diabetes and stroke.
- Pharmacogenomics (genetic factors that affect drug prescribing)
Bangkok Clinical Genetics 