Guidelines for genetic counselling in ATTR amyloidosis

Definition Genetic counselling is “a process of communication that deals with the occurrence, or risk of occurrence, of a (possibly) genetic disorder in the family” (ASHG, 1975; EuroGentest guidelines). It involves an attempt, by appropriately trained persons, to help patients and their families to (1) understand the medical facts of the disease; (2) appreciate the contribution of heredity and risks of recurrence in relatives; (3) understand the consultands’ options to deal with those risks, including all their reproductive options; (4) use this genetic information in a personally meaningful way that promotes health, minimizes psychological distress and increases personal control; (5) choose the course of action that seems appropriate to them and act in accordance with that decision; and (6) make the best possible adjustment to the disease or the genetic risks (modified by EuroGentest Unit 3 from Frazer, AJHG 1974; Biesecker & Peters, AJMG 2001; Harper, 2012).