What happens at a Medical Genetics Appointment?

Most people's appointments will have been made by a doctor who felt that particular questions needed answering which required the expertise of a medical geneticist - a medical doctor who specialises in genetics. 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. ·
  • Parents of a child with medical or learning difficulties where a genetic condition may be present, wanting an expert assessment.

In some cases, a specially trained person who is not a doctor (called a Genetic Associate, Genetic Nurse, or Genetic Counsellor) may see you before your appointment with the doctor.

Most genetic appointments are 45 to 60 minutes long, so you should not feel rushed. Several relatives may attend an appointment together, if they wish.

The details of your appointment will vary depending on the exact reason for which you are being seen, but it will often include: ·

  • The problem that has brought you to the clinic will be discussed in detail. ·
  • A family tree will be drawn, and medical details of relatives may be asked about (such as the cause and age of their death). It is useful to have found out these details before you come to the clinic, or bring a relative who will know. ·
  • A medical examination may be carried out on one or several family members. ·
  • The doctor will explain their findings to you, and discuss all the options. ·
  • You will be encouraged to ask questions, and to make your own decisions. The doctor will help you with this, but will not tell you what to decide. ·
  • In some situations, tests (such as blood tests) may be offered. Some tests are available on the day, but often you will be asked to take some time to make a decision, and come back another day. ·
  • At the end of the appointment a plan may be made for further information gathering (by you or the doctor), special tests, or another appointment. ·
  • Afterwards you will be sent a letter going over what was discussed in the appointment. If anything in this is unclear, you should contact the clinic again