Patient reactions to receiving negative genomic screening results by mail

Kelsey Stuttgen, Joel Pacyna, Annika Beck, Iftikhar J. Kullo, Richard R. Sharp

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Purpose: As genomic screening is incorporated into a wider array of clinical settings, it is critical that we understand how patients may respond to a various screening results. Although multiple studies have examined how patients understand positive genomic screening results, few data exist regarding patient engagement with negative screening results. Methods: An 82-item survey was administered to 1712 individuals who received negative genomic screening results by mail following evaluation of 109 medically actionable genes. Genetic counselors were available to assist with the interpretation of screening results. Results: One thousand four hundred forty-two participants completed the survey (84.2%). The vast majority of respondents valued the information they received, with 98% of respondents reporting that negative genomic screening results were valuable and 72% indicating they would recommend genomic screening to others. Nonetheless, many respondents had questions about their genomic screening results (28%) and would have preferred to receive their screening results in person (18%). Conclusion: These data suggest most patients value receiving negative genomic screening results and are comfortable receiving their results by mail. Nevertheless, a significant proportion of patients also reported difficulty understanding some aspects of their results. This finding challenges the idea that communicating genomic screening results by mail alone is sufficient to meet patients’ needs.

Original languageEnglish (US)
Pages (from-to)1994-2002
Number of pages9
JournalGenetics in Medicine
Issue number12
StatePublished - Dec 2020


  • genetic screening
  • genomic sequencing
  • health communication
  • negative results
  • returning results

ASJC Scopus subject areas

  • Genetics(clinical)


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