Module Content
Genetic Abnormalities
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Steps to take if my patient answers “yes” to any of the previous questions
Obviously you want to ask follow up questions in order to extract as much information as possible. If the patient is considering pregnancy in her near future, it is a good idea to refer to a prenatal genetics clinic, or perhaps to refer the affected patient or family member to a general genetics clinic.
Why to refer at this point?
The mother or whoever is symptomatic needs an established diagnosis.
The most accurate proband (i.e., the person whose genes will be tested for the presence of a disorder) needs to be selected so that you run the genetic tests on the right person resulting in better efficiency with time and money.
In the event that the patient wants to use pre-implantation genetics (i.e., a cell is removed from the 8 cell embryo and is tested for known genetic disorders; expensive) you can only select for known genetic anomalies. This is another reason why establishing this diagnosis is important.
Interpreting the results of these tests is difficult and requires specialty training to be done well
In addition to the patient being tested, the patient's family is affected by the results of these tests. Doctors and staff who deal with this regularly are equipped to counsel the family.
