Motivation to perform presymptomatic testing in Portuguese subjects at-risk for LONDS

What is it about?

This study addresses the motivation to perform the presymptomatic testing (PST) of subjects at-risk for 3 diseases, Familial Amyloid Polyneuropathy (FAP), Huntington's disease (HD) and Machado-Joseph disease (MJD), compared with the motivation to perform the PST for Hemochromatosis (HH).

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Why is it important?

The motivation of subjects at-risk to perform the PST for FAP, HD and MJD is external and unrelated to the disease, while the motivation of subjects at-risk to perform the PST for HH is related to the disease. Reasons related to others are a common motivation: as subjects at-risk for FAP, HD and MJD, subjects at-risk for HH also chose reasons related to others as one of the most important motivations to carry out the PST. These subjects also care about the fact that they can transmit the disease to their children and care about other family members which are already ill. The category reasons related to others includes subcategories that identify the person and the situation that led to the decision to perform a PST. Subjects at-risk are also concerned about the fact that they have to decide whether or not to have children and its economic implications.