Professional genetic counselling

 

  1. Genetic counselling is a communication process that aims to provide information and supportive counselling to members of families regarding problems in growth, development and health that may have a genetic basis.
  2. The process of professional genetic counselling involves assisting patients to:
  3. Comprehend the medical facts regarding a genetic condition, including the diagnosis, probable course of the condition and the available management
  4. Appreciate the way heredity contributes to the condition and the risk of occurrence in relatives
  5. Understand the options for dealing with the risk of recurrence
  6. Choose the course of action that seems appropriate in view of their situation, risk, and values, and act in accordance with that decision
  7. Make the best possible adjustment to the condition in an affected family member and/or to the risk of recurrence of that condition
  8. During a consultation the following may be discussed:
  9. Information about the condition including:
  10. Key clinical features
  11. The genetic contribution to its cause, including the gene(s) involved, the inheritance pattern, the likelihood that a person who inherits the genetic susceptibility will develop the condition
  12. Interactions between genes and the interplay between genes and environment
  13. Genetic testing:
  14. Availability of testing
  15. Helping patients to decide whether to undergo genetic testing
  16. Helping patients understand and use genetic test results
  17. Implications for family members:
  18. Depending on the particular condition and the information provided, there may be profound medical and psychological implications for blood relatives
  19. There may be implications for future reproductive choices, employment or insurance, and issues concerning the privacy and confidentiality of genetic information
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Preparing families for a professional genetics consultation

  1. Patients should gather information about their family’s health history (including age of diagnosis, causes and age of death). There is usually a pre-clinic contact (either phone call or questionnaire) where family information will be requested prior to the consultation.
  2. Photos of relatives can sometimes help with diagnosis.
  3. Patients should make a list of questions they wish to ask before the appointment and take it with them.
  4. Consultations usually last about an hour. If tests are required, the family may be at the service for longer.
  5. Patients should be aware that the consultation may not provide definitive information, eg in relation to diagnosis or risk for future children.
  6. Other family members may need a physical examination or investigation, eg the parents of a child.
  7. Blood tests may be required.
  8. The presence of another family member or friend can provide moral support and help recall.
  9. Health care interpreter services are usually available.
  10. A letter is sent to the family and referring doctor after a consultation, documenting what was said and the findings.
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At a genetics consultation session

  1. Whilst each genetics consultation session will differ depending on the patient and their particular situation, in general terms the following is likely to take place:
  2. Confirmation of family history
  3. Clinical examination
  4. Diagnosis (if appropriate)
  5. Provision of genetic information
  6. Discussion and possible provision of genetic testing
  7. Discussion surrounding the implications for the individual and other family members
  8. Provision of support and counselling
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