ABSTRACT
High-flow vascular malformations have been associated with multiple syndromes including capillary malformation-arteriovenous malformation (CM-AVM) syndrome, hereditary hemorrhagic telangiectasia syndrome, and less commonly, phosphatase and tensin homolog hamartoma tumor syndrome (PHTS). We present a series of three patients with clinically challenging complex AVMs who were found to have underlying PHTS. In all patients, diagnosis was delayed, and the presence of the AVM prompted sampling and genetic testing for PHTS in the absence of other clinical features of the condition. This series highlights the importance of screening for PHTS in the setting of high-flow vascular malformations.
Subject(s)
Arteriovenous Malformations , Capillaries/abnormalities , Hamartoma Syndrome, Multiple , Port-Wine Stain , Telangiectasia, Hereditary Hemorrhagic , Vascular Malformations , Humans , Hamartoma Syndrome, Multiple/complications , Hamartoma Syndrome, Multiple/diagnosis , Hamartoma Syndrome, Multiple/genetics , Arteriovenous Malformations/complications , Arteriovenous Malformations/diagnosis , Arteriovenous Malformations/genetics , Doxorubicin , PTEN Phosphohydrolase/geneticsABSTRACT
Entrustment decisions are an essential part of genetic counseling supervision and have the potential to influence a student's progression toward autonomy. However, there is often uncertainty among supervisors regarding how and when to make these decisions and very few studies have examined the impact of these decisions on students. This study utilized a mixed methods approach including surveys of genetic counseling supervisors (n = 76) and students (n = 86) as well as qualitative interviews with genetic counseling supervisors (n = 20) and students (n = 20) that explored factors that influence the entrustment decisions of genetic counseling supervisors and their effect on genetic counseling students. Genetic counseling supervisors and students were recruited from various organizations across the United States and Canada and represented a range of geographic regions, hospital systems, and genetic counseling programs. A hybrid process of deductive and inductive coding and thematic analysis was used to evaluate and interpret transcripts from the supervisor and student interviews. All participants identified advantages of increased autonomy during training. However, many supervisors reported low entrustment, seldom allowing students to complete unsupervised sessions or supervised cases without interruption. Entrustment decisions were heavily influenced by student ability and confidence, as well as patient feedback. Students emphasized the negative impact of decreased entrustment on their confidence and described clear benefits to increased autonomy before, during, and after the genetic counseling appointment. Supervisors identified various barriers to entrustment pertaining to the student, clinical setting, and the patient, whereas students more often emphasized barriers pertaining to themselves. Our results highlight a tension between the clear advantages of increased entrustment and autonomy and various barriers to the provision of these opportunities. Additionally, our data suggest several ways to enhance the supervisor-student relationship and promote additional learning opportunities to support student-centered supervision.
