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The revised Bethesda guidelines: extent of utilization in a university hospital medical center with a cancer genetics program

Aparna Mukherjee1, Thomas J McGarrity1, Francesca Ruggiero2, Walter Koltun3, Kevin McKenna3, Lisa Poritz3 and Maria J Baker4*

Author Affiliations

1 Department of Medicine, Division of Gastroenterology and Hepatology, Penn State Milton S. Hershey Medical Center, Hershey, USA

2 Department of Pathology, Penn State Milton S. Hershey Medical Center, Hershey, USA

3 Department of Surgery, Penn State Milton S. Hershey Medical Center, Hershey, USA

4 Department of Medicine, Penn State Hershey Cancer Institute, Penn State Milton S. Hershey Medical Center, Hershey, USA

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Hereditary Cancer in Clinical Practice 2010, 8:9  doi:10.1186/1897-4287-8-9

Published: 22 November 2010

Abstract

Background

In 1996, the National Cancer Institute hosted an international workshop to develop criteria to identify patients with colorectal cancer who should be offered microsatellite instability (MSI) testing due to an increased risk for Hereditary Nonpolyposis Colorectal Cancer (HNPCC). These criteria were further modified in 2004 and became known as the revised Bethesda Guidelines. Our study aimed to retrospectively evaluate the percentage of patients diagnosed with HNPCC tumors in 2004 who met revised Bethesda criteria for MSI testing, who were referred for genetic counseling within our institution.

Methods

All HNPCC tumors diagnosed in 2004 were identified by accessing CoPath, an internal database. Both the Tumor Registry and patients' electronic medical records were accessed to collect all relevant family history information. The list of patients who met at least one of the revised Bethesda criteria, who were candidates for MSI testing, was then cross-referenced with the database of patients referred for genetic counseling within our institution.

Results

A total of 380 HNPCC-associated tumors were diagnosed at our institution during 2004 of which 41 (10.7%) met at least one of the revised Bethesda criteria. Eight (19.5%) of these patients were referred for cancer genetic counseling of which 2 (25%) were seen by a genetics professional. Ultimately, only 4.9% of patients eligible for MSI testing in 2004 were seen for genetic counseling.

Conclusion

This retrospective study identified a number of barriers, both internal and external, which hindered the identification of individuals with HNPCC, thus limiting the ability to appropriately manage these high risk families.