Abstract
PURPOSE: To assess the experience of Amish regarding return of results (RoR) of long QT syndrome founder variant KCNQ1 p.(Thr224Met), information sharing, and uptake of beta-blockers, and variant testing in at-risk family members (cascade testing). METHODS: Probands (n = 88) with KCNQ1 p.(Thr224Met), previously identified by exome sequencing, after RoR, were mailed: (1) survey on attitudes toward RoR and (2) response card indicating interest in free, in-home cascade testing of first-degree relatives, indicating contact preference by study team (direct contact) or proband. Participant recall of beta blocker recommendation was compared with notes from RoR counseling. RESULTS: Surveys were received from 33 of 88 (37.5%) participants. Positive perceptions of the utility of genetic testing were reported (mean = 32.1, SD = 3.4, range 25-38). Of 23 respondents recalling that a beta blocker was recommended, 4 (17.4%) were taking one. Cascade testing interest responses were received from 69 of 88 (78%) participants; 25 expressed interest in cascade testing of children or information for family members. Most participants chose direct contact (90%). Seventy-nine family members (63 children, 16 siblings) from 18 families were tested, all through direct contact. CONCLUSION: The RoR process was well received, although uptake of beta blockers was low. Cascade testing interest was modest; however, most followed through on testing. These results help to inform strategies to improve cascade testing in this population.