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. Author manuscript; available in PMC: 2012 Sep 1.
Published in final edited form as: Genet Med. 2011 Sep;13(9):812–820. doi: 10.1097/GIM.0b013e31821d2e6d

Table 4.

Scenarios

a.  Colleen is a 35 year old woman with nosebleeds since childhood and a family history of stroke. She has recently started to feel short of breath. Her family doctor refers her to a lung doctor. The lung doctor runs many tests and discovers that Colleen has pulmonary arterio-venous malformations (AVMs), which are treated by an interventional radiologist. The radiologist suggests to Colleen’s primary care doctor that Colleen probably has HHT and that she should have genetic testing.
b.  Colleen has the genetic test that shows that she a genetic mutation which causes HHT. Before she was tested, the family doctor told Colleen that her family members are also at risk. As soon as she finds out that she carries a mutation, Colleen immediately talks to her siblings and urges them to get testing. No one follows her advice.