Genetic Testing for Dilated Cardiomyopathy: Ethical Dilemmas in Including PSEN1 and PSEN2

2014

Kellie Ellerbusch
[email protected]
402-559-4892

PSEN1 and PSEN2, have recently been associated with familial dilated cardiomyopathy. They are also known causes of early-onset familial Alzheimer disease, thus testing for PSEN1/PSEN2 in cardiomyopathy patients constitutes presymptomatic testing. The UNMC Human Genetics Laboratory collaborated with the Heart Center to design a cardiomyopathy panel and encountered ethical concerns regarding how to provide a comprehensive test while avoiding undue burden and protecting patient autonomy. It was anticipated that many patients would choose not to learn about these genes. Unexpectedly, when presented with the choice of excluding PSEN1/PSEN2, 100% of patients with dilated cardiomyopathy chose to include them. Multiple patients cited a desire to fully understand and face their health risks. The decisions of this patient population may represent a distinct perspective. Given the risk of unanticipated results, and in light of our experience with patient acceptance, it is particularly important t

PSEN1, PSEN2, Ethics, cardiomyopathy

Conference presentations and posters presented

Professionals

[email protected]

N/A