As a genetic counselor, it is always challenging to tell the patient sitting in front of you that she carries a genetic mutation (or a pathogenic variant, as it is now called) that could negatively impact her health. But perhaps more challenging, is telling the person that her family members are also at risk of carrying the same genetic finding and should be notified.
Prior to this conversation, and before the DNA test is ordered, a good genetic counselor will have already discussed the topic with the patient and recommended that results be shared with family members. But many, if not most, consumers are now having genetic testing without first speaking to a certified genetic counselor. In fact, many consumers never speak to a certified genetic counselor. As a result, we find that the discussion on sharing genetic testing results with family members is falling by the wayside.
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