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2014 ; 16
(6
): 442-7
Nephropedia Template TP
gab.com Text
Twit Text FOAVip
Twit Text #
English Wikipedia
Preferences for results delivery from exome sequencing/genome sequencing
#MMPMID24310310
Wright MF
; Lewis KL
; Fisher TC
; Hooker GW
; Emanuel TE
; Biesecker LG
; Biesecker BB
Genet Med
2014[Jun]; 16
(6
): 442-7
PMID24310310
show ga
PURPOSE: The aim of this study was to explore the implications of sequencing
information and stated preferences for return of results among research
participants. METHODS: Six focus groups were held with 39 ClinSeq participants.
The groups included participants who had received results, those who had not,
those affected with cardiovascular disease, and healthy adults. Audio recordings
of the sessions were transcribed and coded and analyzed for themes. RESULTS: All
participants expressed interest in receiving results that are medically
actionable, nonactionable, carrier, and less so variants that cannot be
interpreted. Most participants preferred to receive results in person, although
several endorsed use of Internet-based resources that they could return to.
Participants identified benefits for health management along with satisfying
curiosity, making scientific contributions, and partnering in research. Value was
seen in gaining control over health risks. Concerns were distress and/or fear
that may result. Some participants were opposed to or ambivalent about learning
certain types of results, particularly those having to do with diseases that were
incurable or that might have implications for the health of their children.
CONCLUSION: There was relative enthusiasm about the value of learning sequencing
information, yet it was tempered by concern about negative feeling responses and
aversion to learning about incurable conditions.