Journal of Genetic Counseling

, Volume 22, Issue 1, pp 138–151 | Cite as

“Is it Really Worth it to Get Tested?”: Primary Care Patients’ Impressions of Predictive SNP Testing for Colon Cancer

  • Kara-Grace Leventhal
  • William Tuong
  • Beth N. Peshkin
  • Yasmin Salehizadeh
  • Mary B. Fishman
  • Susan Eggly
  • Kevin FitzGerald
  • Marc D. Schwartz
  • Kristi D. GravesEmail author
Original Research


Despite significant progress in genomics research over the past decade, we remain years away from the integration of genomics into routine clinical care. As an initial step toward the implementation of genomic-based medicine, we explored primary care patients’ ideas about genomic testing for common complex diseases to help develop future patient education materials and interventions to communicate genomic risk information. We conducted a mixed-methods study with participants from a large primary care clinic. Within four focus groups, we used a semi-structured discussion guide and administered brief pre- and post- discussion quantitative surveys to assess participants’ interest, attitudes, and preferences related to testing and receipt of test results. Prior to the discussion, moderators presented a plain-language explanation of DNA and genetics, defined “SNP”, and highlighted what is known and unknown about the risks associated with testing for SNPs related to colorectal cancer risk. We used the NVIVO 8 software package to analyze the transcripts from the focus group discussions. The majority of participants (75 %) were “very” or “somewhat interested” in receiving information from a colon cancer SNP test, even after learning about and discussing the small and still clinically uncertain change in risk conferred by SNPs. Reported interest in testing was related to degree of risk conferred, personal risk factors, family history, possible implications for managing health /disease prevention and curiosity about genetic results. Most people (85 %) preferred that genetic information be delivered in person by a healthcare or genetics professional rather than through print materials or a computer. These findings suggest that patients may look to genetic counselors, physicians or other healthcare professionals as gatekeepers of predictive genomic risk information.


Attitudes Colorectal cancer risk Focus group Genomics Single-nucleotide polymorphisms Translational research 



Thank you to Susan Marx for her assistance with manuscript preparation and to Amy Procknal and Dr. Dennis Murphy of the Division of General Internal Medicine at Georgetown University Hospital for assistance with patient recruitment. We would also like to thank the participants in this study for their time and contributions.

Grant Support

This project was supported by funding through NCI K07CA131172 (KG) and from the Fisher Center for Familial Cancer Research.

Supplementary material

10897_2012_9530_MOESM1_ESM.pdf (1.7 mb)
Esm 1 (PDF 1.73 MB)


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Copyright information

© National Society of Genetic Counselors, Inc. 2012

Authors and Affiliations

  • Kara-Grace Leventhal
    • 1
  • William Tuong
    • 1
  • Beth N. Peshkin
    • 1
  • Yasmin Salehizadeh
    • 1
  • Mary B. Fishman
    • 2
  • Susan Eggly
    • 3
  • Kevin FitzGerald
    • 1
  • Marc D. Schwartz
    • 1
  • Kristi D. Graves
    • 1
    Email author
  1. 1.Fisher Center for Familial Cancer Research, Lombardi Comprehensive Cancer CenterGeorgetown UniversityWashingtonUSA
  2. 2.Division of General Internal MedicineGeorgetown University HospitalWashingtonUSA
  3. 3.Department of Oncology, Karmanos Cancer InstituteWayne State UniversityDetroitUSA

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