A geneticist is a doctor who specialises in inherited diseases.
Medical Conditions
Any inherited disorder, for example:
- Down’s syndrome (trisomy 21)
- Cystic fibrosis
Specialty Areas of Interest
- Prenatal diagnosis
- Genetic counselling
- Cancer genetics
- Research
Associated Tests
- Blood tests
- Chromosomal testing (DNA analysis)
- Amniocentesis
- Choriocentesis
Procedures
What to expect
History
A geneticist will focus a great deal on history - the initial interview. Usually a person will present because they have had a past history or family history of a genetic problem and need to know more about it. This is most often the case when prospective parents are concerned about the possibility they may have a baby with an inherited disorder, either because they have done so before or because there is a family history of a genetic problem.
The geneticist will ask about the particular disorder and the patient’s concerns. They will ask about family history and risk factors for inherited disorders.
They will then give advice, or if necessary conduct genetic testing. They are experts at assessing risk and giving counselling about the risks and options available.
Examination
Your geneticist may simply give advice. An examination may be required to determine if you have an inherited disorder with some specific physical traits. This will be tailored to the condition being suspected by the geneticist and will usually be a fairly general examination.
