Am I a control?: Genotype-driven research recruitment and self-understandings of study participants

Genet Med. 2012 Dec;14(12):983-9. doi: 10.1038/gim.2012.88. Epub 2012 Aug 30.


Purpose: Genotype-driven research recruitment complicates traditional study roles and may leave those recruited worried about unwelcome surprises from their DNA. This study investigated the ways that individuals experience genotype-driven recruitment, and conceptualize their roles as research participants.

Methods: Individual interviews were conducted with the participants of a genotype-driven study on cystic fibrosis. The eligibility criteria included the presence of one of two genetic variants. We interviewed 24 of these participants: 9 had cystic fibrosis and 15 had been selected from a biobank as "healthy volunteers."

Results: Participants with cystic fibrosis expressed no concerns about the eligibility criteria and saw themselves as part of a close-knit research community. However, biobank participants were unsure about why they had been selected and how they should think about themselves relative to the study. They sometimes reacted with anxiety to genetic information that they perceived to connect them with cystic fibrosis.

Conclusion: Being recruited for a study on the basis of one's genotype may raise uncertainties about the meaning and implications of the genotypic information. People without the disease under study may require especially clear and detailed explanations of what researchers already know about their genetic makeup, in terms of future risk for themselves or their children.

Publication types

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

MeSH terms

  • Adult
  • Case-Control Studies*
  • Cystic Fibrosis / blood
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis / psychology
  • Female
  • Genotype*
  • Health Knowledge, Attitudes, Practice
  • Healthy Volunteers / psychology
  • Humans
  • Male
  • Middle Aged
  • Patient Selection*
  • Research Subjects / psychology*
  • Self Concept
  • Transforming Growth Factor beta1 / genetics
  • Young Adult


  • Transforming Growth Factor beta1