ArticleGenetics in medicine open2025
Attitudes toward returning pathogenic
Article in Genetics in medicine open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: To assess the experience of Amish regarding return of results (RoR) of long QT syndrome founder variant Methods: Probands ( 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.
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