A model for patient-direct screening and referral for familial cancer risk

Kristin B. Niendorf, Melissa A. Geller, Rachel Isaksson Vogel, Timothy R. Church, Anna Leininger, Angela Bakke, Robert D. Madoff

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


Patients at increased familial risk of cancer are sub-optimally identified and referred for genetic counseling. We describe a systematic model for information collection, screening and referral for hereditary cancer risk. Individuals from three different clinical and research populations were screened for hereditary cancer risk using a two-tier process: a 7-item screener followed by review of family history by a genetic counselor and application of published criteria. A total of 869 subjects participated in the study; 769 in this high risk population had increased familial cancer risk based on the screening questionnaire. Of these eligible participants, 500 (65.0 %) provided family histories and 332 (66.4 %) of these were found to be at high risk of a hereditary cancer syndrome, 102 (20.4 %) at moderate familial cancer risk, and 66 (13.2 %) at average risk. Three months following receipt of the risk result letter, nearly all respondents found the process at least somewhat helpful (98.4 %). All participants identified as high-risk were mailed a letter recommending genetic counseling and were provided appointment tools. After 1 year, only 13 (7.3 %) of 179 high risk respondents reported pursuit of recommended genetic counseling. Participants were willing to provide family history information for the purposes of risk assessment; however, few patients pursued recommended genetic services. This suggests that cancer family history registries are feasible and viable but that further research is needed to increase the uptake of genetic counseling.

Original languageEnglish (US)
Pages (from-to)707-716
Number of pages10
JournalFamilial Cancer
Issue number4
StatePublished - Oct 1 2016

Bibliographical note

Funding Information:
The authors wish to thank the Health Studies Section of the University of Minnesota, School of Public Health for the data acquisition and management services as well as Kristin Oehlke, M.S., C.G.C. and members of the William C. Bernstein, M.D. Familial Cancer Registry advisory board who provided expertise in preparation of the original study design and execution. This study was funded by the William C. Bernstein, M.D. Grant and the University of Minnesota Masonic Cancer Center.

Publisher Copyright:
© 2016, Springer Science+Business Media Dordrecht.


  • Cancer
  • Familial
  • Family history
  • Genetic
  • Genetic counseling
  • Hereditary
  • Uptake


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