Familial Cancer

, Volume 14, Issue 1, pp 167–174 | Cite as

Outcomes of genetic evaluation for hereditary cancer syndromes in unaffected individuals

  • Shanna L. GustafsonEmail author
  • Victoria M. Raymond
  • Monica L. Marvin
  • Tobias Else
  • Erika Koeppe
  • Elena M. Stoffel
  • Jessica N. Everett
Original Article


Genetic testing (GT) for inherited cancer predisposition is most informative when initiated in individuals with cancer, thus standard practice recommends GT start in an affected individual. This strategy can be frustrating for unaffected consultands and providers. Retrospective review of cases was performed to compare outcomes of testing the unaffected consultand and recommending that testing start in an affected relative. Records from cancer-free consultands (N = 101), presenting to the University of Michigan Cancer Genetics Clinic between 6/1/2011 and 12/30/2011 were reviewed. All genetics records for these consultands were reviewed through 3/31/2013 for GT recommendations (117 total). The unaffected consultand was offered testing in 14.5 % of cases, testing was completed in 64.7 % of these with one mutation identified. Of consultands tested initially, 70.5 % received cancer-screening recommendations based on family history and test results. Testing was recommended to start in an affected family member in 30.7 % of cases. Fifty percent returned to clinic with information on an affected family member; 83.3 % documented that their family member underwent GT with one mutation identified. Consultands reported the affected family member refused testing in 22.2 % and two of these consultands subsequently pursued GT, identifying one mutation. Fifty percent of cases where testing the family member first was recommended were lost to follow-up with 66.6 % of these never given cancer-screening recommendations. Cancer genetic risk evaluation of healthy consultands should consider the option of pursuing GT in the unaffected consultand and should implement a plan for tailored risk management in the absence of informative genetic evaluation within the family.


Genetic counseling Genetic testing Hereditary cancer Risk assessment 



The authors would like to thank all of the patients who consented to participate in longitudinal research with the University of Michigan Cancer Genetics Clinic, especially those included in this assessment (University of Michigan IRB HUM00043440). The authors would also like to express gratitude to Dr. Stephen Gruber for reviewing this paper and contributing to the University of Michigan Cancer Genetics Clinic.

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  • Shanna L. Gustafson
    • 1
    Email author
  • Victoria M. Raymond
    • 1
  • Monica L. Marvin
    • 2
  • Tobias Else
    • 3
  • Erika Koeppe
    • 4
  • Elena M. Stoffel
    • 4
  • Jessica N. Everett
    • 1
  1. 1.Division of Molecular Medicine and Genetics, Department of Internal MedicineUniversity of MichiganAnn ArborUSA
  2. 2.Department of Human GeneticsUniversity of MichiganAnn ArborUSA
  3. 3.Division of Metabolism, Endocrinology and DiabetesUniversity of MichiganAnn ArborUSA
  4. 4.Division of GastroenterologyUniversity of MichiganAnn ArborUSA

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