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. 2024 Oct;26(10):101200.
doi: 10.1016/j.gim.2024.101200. Epub 2024 Jun 26.

Attitudes, knowledge, and risk perceptions of patients who received elective genomic testing as a clinical service

Emilie S Zoltick  1 , Megan Bell  2 , Madison R Hickingbotham  1 , Ann Chen Wu  3 , Lauren N Galbraith  4 , Jessica L LeBlanc  1 , Christine Y Lu  5 , Jennifer R Leonhard  6 , Dylan M Platt  7 , Hadley Stevens Smith  3 , Robert C Green  8 , Catherine Hajek  9 , Kurt D Christensen  10
Affiliations

Attitudes, knowledge, and risk perceptions of patients who received elective genomic testing as a clinical service

Emilie S Zoltick et al. Genet Med. 2024 Oct.

Abstract

Purpose: Elective genomic testing (EGT) is increasingly available clinically. Limited real-world evidence exists about attitudes and knowledge of EGT recipients.

Methods: After web-based education, patients who enrolled in an EGT program at a rural nonprofit health care system completed a survey that assessed attitudes, knowledge, and risk perceptions.

Results: From August 2020 to April 2022, 5920 patients completed the survey and received testing. Patients most frequently cited interest in learning their personal disease risks as their primary motivation. Patients most often expected results to guide medication management (74.0%), prevent future disease (70.4%), and provide information about risks to offspring (65.4%). Patients were "very concerned" most frequently about the privacy of genetic information (19.8%) and how well testing predicted disease risks (18.0%). On average, patients answered 6.7 of 11 knowledge items correctly (61.3%). They more often rated their risks for colon and breast cancers as lower rather than higher than the average person but more often rated their risk for a heart attack as higher rather than lower than the average person (all P < .001).

Conclusion: Patients pursued EGT because of the utility expectations but often misunderstood the test's capabilities.

Keywords: Elective genomic testing; Motivations; Personal disease risk; Pharmacogenomic testing; Risk perceptions.

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Conflict of interest statement

Conflict of Interest Robert C. Green, Kurt D. Christensen, Emilie S. Zoltick, Madison R. Hickingbotham, Jessica L. LeBlanc, and Lauren N. Galbraith were supported by a research grant from Sanford Health. Madison R. Hickingbotham, Madison R. Hickingbotham, Ann Chen Wu, Lauren N. Galbraith, and Jessica L. LeBlanc have been funded by National Center for Advancing Translational Sciences (NCATS), National Heart, Lung, and Blood Institute (NHLBI), and National Institute of Child Health and Human Development (NICHD). Ann Chen Wu has received grants from NICHD, NHLBI, and GlaxoSmithKline. Catherine Hajek is an employee of Helix OpCo. Christine Y. Lu undertook contract work with Illumina Inc outside the submitted work and has received research grants and contracts from National Human Genome Research Institute (NHGRI), NIMH, NICHD, National Cancer Institute, and Centers for Disease Control and Prevention. Emilie S. Zoltick has been funded by NIMHD. Hadley Stevens Smith has been funded by NHGRI and NICHD, has consulted for Illumina, Inc and received compensation, and has received compensation from Elsevier and the Eastern Society of Pediatric Research. Kurt D. Christensen has received research grants from NHGRI, NCATS, NHLBI, and NICHD. Lauren N. Galbraith is an employee of Pfizer, Inc. Robert C. Green has received compensation for advising the following companies: AIA, Allelica, Atria, Fabric, Genome Web, Genomic Life, Verily, and VinBigData; is cofounder of Genome Medical and Nurture Genomics; and has received research grants from NCATS, NHLBI, the Danaher Foundation, the Southcentral Foundation, GRAIL, and Beaumont Health. All other authors declare no conflicts of interest.

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