Returning negative results to individuals in a genomic screening program: lessons learned

Rita M. Butterfield*, James P. Evans, Christine Marie Rini, Kristine J. Kuczynski, Margaret Waltz, R. Jean Cadigan, Katrina A.B. Goddard, Kristin R. Muessig, Gail E. Henderson

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


Purpose: In genomics, the return of negative screening results for rare, medically actionable conditions in large unselected populations with low prior risk of disease is novel and may involve important and nuanced concerns for communicating their meaning. Recruitment may result in self-selection because of participants’ personal or family history, changing the characteristics of the screened population and interpretation of both positive and negative findings; prior motivations may also affect responses to results. Methods: Using data from GeneScreen, an exploratory adult screening project that targets 17 genes related to 11 medically actionable conditions, we address four questions: (1) Do participants self-select based on actual or perceived risk for one of the conditions? (2) Do participants understand negative results? (3) What are their psychosocial responses? (4) Are negative results related to changes in reported health-related behaviors? Results: We found disproportionate enrollment of individuals at elevated prior risk for conditions being screened, and a need to improve communication about the nature of screening and meaning of negative screening results. Participants expressed no decision regret and did not report intention to change health-related behaviors. Conclusion: This study illuminates critical challenges to overcome if genomic screening is to benefit the general population.

Original languageEnglish (US)
Pages (from-to)409-416
Number of pages8
JournalGenetics in Medicine
Issue number2
StatePublished - Feb 1 2019


  • Ethical, legal, and social issues
  • Genomic sequencing
  • Population screening
  • Returning results

ASJC Scopus subject areas

  • Genetics(clinical)


Dive into the research topics of 'Returning negative results to individuals in a genomic screening program: lessons learned'. Together they form a unique fingerprint.

Cite this