The Importance Of Clinical Genetics
Clinical genetics is a field of medicine that is involved in the diagnosis, management, and control/prevention of hereditary/genetic disorders/diseases.
A Clinical Geneticists is a doctor who evaluates, diagnose and manage patients / families with genetic disorders.
Common procedures / interventions:
- Clinical history taking
- Family history (pedigree)
- A detailed physical examination
- Genetic testing
- Genetic counselling
- Performing skin biopsies where necessary
- Taking clinical photographs (if person agrees)
- Using computerized databases.
- Reviewing objective data such as imaging and test results
- Establishing a differential diagnosis.
- Recommending appropriate diagnostic tests
Referrals are made to genetics clinics for a variety of reasons, including birth defects, developmental delay, autism, epilepsy, short stature, and many others.
When to refer a Genetic Specialist?
- Delayed or absent puberty
- Recurrent miscarriages
- Advanced maternal age
- A high-risk pregnancy due to abnormal screening results
- Familial cancer
- Marriage within the family
- Family history of genetic condition
- Family members with intellectual disability and/or development delay
- Carries of a faulty gene such as cystic fibrosis or thalassemia
- Changes in an individual’s genetic material (chromosomes or genes)
- Unexplained intrauterine growth retardation
- Birth defect or physical abnormality
- Dysmorphic features (unusual physical features)
- Failure to thrive (growth problems)
- Unusual growth pattern; overgrowth, short stature
- Hearing loss or deafness
- Congenital eye defects or blindness
- Unusual skin lesions or pigmentation