Using the Delphi method to identify clinicians' perceived importance of pediatric exome sequencing results

Genet Med. 2020 Jan;22(1):69-76. doi: 10.1038/s41436-019-0601-3. Epub 2019 Jul 5.


Purpose: Information obtained from clinical exome sequencing (ES) may impact clinical care or other aspects of a patient's life. Little is known about clinicians' perceptions regarding either the value of ES results or which among various outcomes are most relevant to determine value. This study aims to assess clinicians' opinions of the importance of ES results for medical decision making and identify a set of outcomes to be measured in future ES evaluations.

Methods: Expert opinion regarding the value of remarkable (diagnostic/positive) and unremarkable (nondiagnostic/negative) ES results was elicited via the Delphi method, consisting of two survey rounds and a teleconference. Participants had expertise in caring for clinically diverse infants and children with suspected underlying genetic etiologies. Descriptive statistics and (dis)agreement were calculated for each survey item.

Results: Remarkable ES results were considered important for 17 outcome domains. Unremarkable ES results were also perceived as important in terms of psychological impact and ability to inform follow-up diagnostic test decisions.

Conclusion: Clinicians regard remarkable ES results as more important in many ways than findings from other diagnostic modalities. Unremarkable ES results were not considered unimportant for decision making, but rather uncertain in most outcome domains.

Keywords: clinical genetic/genomic interventions; clinician opinion; coverage and reimbursement; outcomes analysis; value assessment.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Clinical Decision-Making
  • Delphi Technique*
  • Exome Sequencing / methods*
  • Female
  • Humans
  • Male
  • Physicians / psychology*
  • Pilot Projects
  • Surveys and Questionnaires