Recontacting in light of new genetic diagnostic techniques for patients with intellectual disability: Feasibility and parental perspectives

Abstract

A higher diagnostic yield from new diagnostic techniques makes re-evaluation in patients with intellectual disability without a causal diagnosis valuable, and is currently only performed after new referral. Active recontacting might serve a larger group of patients. We aimed to evaluate parental perspectives regarding recontacting and its feasibility in clinical genetic practice. A recontacting pilot was performed in two cohorts of children with intellectual disability. In cohort A, parents were recontacted by phone and in cohort B by letter, to invite them for a re-evaluation due to the new technologies (array CGH and exome sequencing, respectively). Parental opinions, preferences and experiences with recontacting were assessed by a self-administered questionnaire, and the feasibility of this pilot was evaluated. 47 of 114 questionnaires were returned. In total, 87% of the parents believed that all parents should be recontacted in light of new insights, 17% experienced an (positive or negative) emotional reaction. In cohort A, approached by phone, 36% made a new appointment for re-evaluation, and in cohort B, approached by letter, 4% did. Most parents have positive opinions on recontacting. Recontacting might evoke emotional responses that may need attention. Recontacting is feasible but time-consuming and a large additional responsibility for clinical geneticists.

Keywords: Duty to recontact; Feasibility; Genetics; Intellectual disability; Patient perspectives.