Hope versus reality: Parent expectations of genomic testing.
Katherine E Donohue, Siobhan M Dolan, Dana Watnick and 9 others
PMID 33640235WHAT IT FOUND
Most parents hoped genomic testing would diagnose their child, but after results many reported disappointment, even when a positive result did not change treatment.
Pre-test counseling should address this expectation gap.
Key findings
01Most parents' expectations of genomic testing were unmet after results, and disappointment was common regardless of positive, uncertain, or negative results.
02Parents' pre-test expectations varied from expecting a definitive diagnosis to viewing testing as ruling out genetic disease.
03Positive results could still leave parents disappointed when they did not clarify treatment or resolve remaining health questions.
STILL TO COME
How it was doneWhat they foundWhat it means for RNs
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What it does not show
The study is qualitative and describes parents' expectations and feelings, not test accuracy, clinical outcomes, or treatment effects. The sample was small and purposive, with 24 parents from two hospital systems in New York City, so the themes may not apply to other settings or families who did not participate. Of 90 eligible parents contacted, 33 were not interested and 35 did not respond, so participating families may have had different expectations or experiences. Pre-test genetic counseling was not standardized and could have differed among providers. Parents were asked about expectations after receiving results, so their recall may have been influenced by the outcome and the time since testing.
Declared interests
The supplied text does not include a conflicts-of-interest or funding declaration; the metadata indicates NIH extramural research support.
The easy way to misread this
Do not conclude that genomic testing is ineffective or that genetic counseling should be avoided. The study reports parents' retrospective expectations and disappointment, not the diagnostic accuracy, clinical utility, or comparative effectiveness of testing.