Hope versus reality: Parent expectations of genomic testing

Katherine E. Donohue, Siobhan M. Dolan, Dana Watnick, Katie M. Gallagher, Jacqueline A. Odgis, Sabrina A. Suckiel, Nehama Teitelman, Bruce D. Gelb, Eimear E. Kenny, Melissa P. Wasserstein, Carol R. Horowitz, Laurie J. Bauman

Research output: Contribution to journalArticlepeer-review

Abstract

Objective: Genomics is increasingly used for diagnostic testing in children. This study describes the expectations of parents whose child received genomic testing and whether or not they were met. Methods: A diverse stratified, purposive sample of parents of 22 children in New York City was interviewed using a semi-structured guide. Genomic test results were positive, negative, or uncertain. Results: Parents expressed their expectations in narrative and numeric fashion. Parents expected that their child's test would have a direct effect on their child's diagnosis. Some believed that results would be definitive, while others recognized testing limitations. Expectations reflected parents’ hope to find a diagnosis and led to disappointment when results were uninformative or did not impact clinical management. Conclusion: Results suggest pre-test genetic counseling emphasize the low likelihood of actionable results; however, parents’ expectations of genomics’ diagnostic capabilities are strongly rooted in their need to end the diagnostic odyssey and may be difficult to manage. Practice Implications: Parents’ hope for a resolution and effective treatment for their child is a powerful context in which genetic counseling is heard. Clinicians who provide genomic testing should continue to acknowledge parents’ preconceptions. Additional research in other settings will help understand how to best address and manage parent expectations of genomic medicine.

Original languageEnglish (US)
JournalPatient Education and Counseling
DOIs
StateAccepted/In press - 2021

Keywords

  • Expectations
  • Genetic counseling
  • Genomic testing
  • Parental experience
  • Psychosocial impact

ASJC Scopus subject areas

  • Medicine(all)

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