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Common reasons to refer a patient or be evaluated by genetics

Most people's appointments will have been made by a doctor who felt that particular questions needed  to be addressed, which required the expertise of a medical geneticist - a medical doctor who specializes in genetic conditions. Typical reasons for being seen include:

  • A person with a genetic condition in the family wanting to know the risks to themselves or their children
  • A person worried about a family history of cancer, who wants to know whether or not they are at increased risk, and to discuss their options.
  • You have a child with medical problems, developmental delay or learning difficulties, and want to see if a diagnosis can be made or cause of the problems can be determined.
  • You have a known genetic condition and want specialist advice about the condition.
  • You or your partner are pregnant and you have been told you have a higher risk for a problem in your baby based on your age, abnormal test result, personal medical problem, or a possible genetic condition in the family; you want to know more information about your risks and options