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Updated: Mar 15, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
A collaborative approach to cancer risk assessment services using genetic counselor extenders in a multi-system
Stephanie A Cohen1, Dawn M Nixon2
1Cancer Genetics Risk Assessment Program, St. Vincent Health, 8402 Harcourt Rd #200, Indianapolis, IN, 46260, USA. sacohen@stvincent.org.
Purpose:
This study aimed to evaluate a unique approach to cancer risk assessment for improved access by smaller rural communities.
Methods:
Local, on-site nurse navigators were trained and utilized as genetic counselor extenders (GCEs) to provide basic risk assessment and offer BRCA1/2 genetic testing to select patients based on a triaging process in collaboration with board-certified genetic counselors (CGCs).
Results:
From August 2012 to July 2014, 12,477 family history questionnaires representing 8937 unique patients presenting for a screening mammogram or new oncology appointment were triaged. Of these, 8.2 % patients were identified at increased risk for hereditary breast cancer, and 4.2 % were identified at increased risk for other hereditary causes of cancer. A total of 75 of 1130 at-risk patients identified (6.6 %) completed a genetic risk assessment appointment; 23 with a GCE and 52 with a CGC. A review of the completed genetic test requisition forms from a 9-year pre-collaboration time period found that 16 % (20/125) did not appear to meet genetic testing criteria. Overall, there was a fourfold increase in patients accessing genetic services in this study period compared to the pre-collaboration time period. Efficiency of this model was assessed by determining time spent by the CGC in all activities related to the collaboration, which amounted to approximately 16 h/month. Adjustments have been made and the program continues to be monitored for opportunities to improve efficiency.
Conclusion:
This study demonstrates the feasibility of CGCs and GCEs collaborating to improve access to quality services in an efficient manner.
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