Abstract:
:Exome sequencing is being offered for children with undiagnosed conditions to identify a primary (causative) variant. Parental preferences for learning secondary (incidental) variants are largely unexplored. Our objective was to characterize values and beliefs that shape parents' preferences for learning their children's sequencing results. We conducted semi-structured interviews with 25 parents of 13 minor probands with a variety of rare genetic conditions. Parents were asked to discuss their preferences to receive four types of results from exome sequencing. Many parents preferred to receive all types of results. Parents had the most positive attitudes toward learning about variants that predispose to disorders treatable or preventable in childhood. They had reservations about learning about predispositions for untreatable adult-onset conditions and carrier status for recessive conditions. Parents described their success in coping with their child's condition as evidence for an ability to manage any additional negative health information. They felt responsible for learning about secondary variants, desiring a gain in control over their child's health. Our findings suggest that investigators should incorporate parents' perceptions of the value in receiving secondary variant information about their children when designing studies employing exome sequencing.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Sapp JC,Dong D,Stark C,Ivey LE,Hooker G,Biesecker LG,Biesecker BBdoi
10.1111/cge.12254subject
Has Abstractpub_date
2014-02-01 00:00:00pages
120-6issue
2eissn
0009-9163issn
1399-0004journal_volume
85pub_type
杂志文章abstract::Finding the genetic determinants of intermediate quantitative traits, such as serum creatinine and urea, might aid in finding the determinants of disease phenotypes, such as renal failure, that are, in part, defined according to threshold values imposed upon such traits. We evaluated the association between common var...
journal_title:Clinical genetics
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journal_title:Clinical genetics
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pub_type: 杂志文章,评审
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pub_type: 杂志文章
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更新日期:1984-01-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
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journal_title:Clinical genetics
pub_type: 杂志文章
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pub_type: 杂志文章
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更新日期:1991-10-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13713
更新日期:2020-04-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1399-0004.2007.00855.x
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1997-07-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:
更新日期:1989-11-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/cge.12064
更新日期:2013-09-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb00701.x
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:
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pub_type: 杂志文章
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journal_title:Clinical genetics
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