Communicating genetic information
- A diagnostic genetic test is undertaken in an individual with signs or symptoms of a condition for diagnosis and to inform patient management.
- A presymptomatic genetic test is undertaken in a well individual to give information about how likely it is that a person will develop a condition. It does not give accurate information about when a person will develop the condition.
- For diagnostic testing; how will the result change the clinical management of the patient? What is the likelihood of the patient developing other clinical features of the genetic condition?
- For presymptomatic testing; what is the likelihood of the patient developing the clinical features of the condition? What screening measures are offered? How will any clinical features of the condition be managed? What will be the psychological impact of finding a mutation?
- For both; what are the implications for other family members, including any difficulties in disseminating genetic information in the family?
Talking point
A learner on the previous course commented that we used to undertake extensive pre-test counselling for HIV, and there was controversy about the amount of anxiety this caused to people when most tests returned negative.HIV testing is now routinely undertaken without any pre-test counselling.Do you think the same principles might apply to genetic tests, or are these different?The Genomics Era: the Future of Genetics in Medicine

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