Burden or benefit? Effects of providing education about and the option to request additional genomic findings from diagnostic exome sequencing: A randomized controlled trial.
Christine Rini, Myra I Roche, Feng-Chang Lin and 9 others
PMID 33966955WHAT IT FOUND
At two weeks after diagnostic sequencing results, adults given education and option to request additional findings reported higher distress about results than those not given it.
They also reported lower uncertainty and anxiety. Differences faded by three and six months.
Key findings
01Two weeks after results, participants who received only diagnostic findings reported lower test-related distress than participants who also received education about additional genomic findings.
02At two weeks, participants who received education and the option to request additional findings reported lower test-related uncertainty and lower generalized anxiety than participants who received diagnostic findings only.
03There was no evidence of group differences in test-related distress at the later assessments, and other secondary outcomes did not differ.
STILL TO COME
How it was doneWhat they foundWhat it means for RNs
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What it does not show
The study was exploratory and did not test hypotheses. The Results and Discussion give opposite directions for short-term test-related distress. Generalizability may be limited because the sample had relatively high education and prior experience with genetic testing. The study did not systematically assess the content of discussions between participants and staff. Participants in the diagnostic-findings-only group knew their sequencing could contain additional genomic information, which may differ from some clinical settings. The education offered a complex set of findings, so results may not apply to simpler or more focused findings. Few participants requested additional findings, and their responses to receiving them were not studied.
Declared interests
The supplied text says NCGENES was part of the National Institutes of Health-funded Clinical Sequencing Exploratory Research consortium. It does not report other conflicts of interest.
The easy way to misread this
Do not conclude that providing education about additional genomic findings and the option to request them reduces overall distress. The primary two-week outcome reported lower distress in the diagnostic-findings-only group, and the short-term differences did not persist at three or six months.