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.

Clinical Genetics

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?

  • Infertility
  • 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

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