Abstract
Purpose
People report experiencing value from learning genomic results even in the absence
of clinically actionable information. Such personal utility has emerged as a key concept
in genomic medicine. The lack of a validated patient-reported outcome measure of personal
utility has impeded the ability to assess this concept among those receiving genomic
results and evaluate the patient-perceived value of genomics. We aimed to construct
and psychometrically evaluate a scale to measure personal utility of genomic results—the
Personal Utility (PrU) scale.
Methods
We used an evidence-based, operational definition of personal utility, with data from
a systematic literature review and Delphi survey to build a novel scale. After piloting
with 24 adults, the PrU was administered to healthy adults in a Clinical Sequencing
Evidence-Generating Research Consortium study after receiving results. We investigated
the responses using exploratory factor analysis.
Results
The exploratory factor analysis (N = 841 participants) resulted in a 3-factor solution, accounting for 74% of the variance
in items: (1) self-knowledge (α = 0.92), (2) reproductive planning (α = 0.89), and
(3) practical benefits (α = 0.91).
Conclusion
Our findings support the use of the 3-factor PrU to assess personal utility of genomic
results. Validation of the PrU in other samples will be important for more wide-spread
application.
Graphical abstract
Graphical Abstract
Keywords
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Article info
Publication history
Published online: December 11, 2022
Accepted:
December 7,
2022
Received in revised form:
December 6,
2022
Received:
September 13,
2022
Footnotes
Erin Turbitt and Jennefer N. Kohler are co–first authors.
Identification
Copyright
© 2022 by American College of Medical Genetics and Genomics. Published by Elsevier Inc.
