Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer

Abstract

Purpose To examine Lynch Syndrome (LS) screening of metastatic colorectal cancer (mCRC) patients in integrated healthcare delivery organizations. Methods We determined the availability of LS screening criteria and actual LS screening in the medical records among 1,188 patients diagnosed with mCRC between 2004–2009 at seven institutions in the Cancer Research Network (CRN). Results We found infrequent use of LS screening (41/1188). Family history was available for 937 of the 1188 patients (79%). There was sufficient information to assess LS risk using family history based criteria in 719 of the 937 patients (77%) with family history documentation. In 391 individuals with a family history of a LS-associated cancer, 107 (27%) could not be evaluated due to missing information such as age of cancer onset. Eleven percent of patients who met Bethesda criteria and 25% of individuals who met the Amsterdam II criteria were screened for LS. When screening occurred, it followed recommended guidelines, but no testing method was preferred. Conclusions The information required for LS screening decisions is routinely collected but seldom utilized. There is a critical gap between collection of family history and its use to guide LS screening, which may support a case for implementation of universal screening guidelines.

Universal screening for Lynch syndrome among patients with colorectal cancer: patient perspectives on screening and sharing results with at-risk relatives

“…[15, 16] Moreover, not all individuals who meet high risk criteria undergo evaluation for Lynch syndrome. [17–21]…”

Universal tumor screening for Lynch syndrome: Assessment of the perspectives of patients with colorectal cancer regarding benefits and barriers

“…Amsterdam criteria and Bethesda guidelines have been developed to identify patients with CRC who should undergo evaluation for Lynch syndrome using criteria mainly based on family cancer history and age at onset . However, these methods are not sensitive enough to detect all patients with Lynch syndrome given that not all meet these criteria, family history is not always reliable or available, and many patients who do meet these criteria remain undiagnosed . In 2005, Hampel et al performed tumor testing on 1066 patients newly diagnosed with CRC and identified 23 patients with Lynch syndrome, 5 of whom (21.7%) did not meet Amsterdam criteria or Bethesda guidelines .…”

“…In 2005, Hampel et al performed tumor testing on 1066 patients newly diagnosed with CRC and identified 23 patients with Lynch syndrome, 5 of whom (21.7%) did not meet Amsterdam criteria or Bethesda guidelines . More recently, Cross et al reported that only 11% and 25%, respectively, of patients who met the Bethesda and Amsterdam criteria had undergone evaluation for Lynch syndrome …”

Consequences of universal MSI/IHC in screening ENDOMETRIAL cancer patients for lynch syndrome

“…Management guidelines for these patients are less clear than for those with a germline MMR mutation, and predictive genetic testing for relatives is not available. Several barriers to genetic counseling and testing have been identified in both endometrial and colorectal cancer patients, including insufficient family history collection, lack of referral, insufficient insurance coverage/cost of the appointment, anxiety for the results, lack of interest, patient/family not wanting to know information regarding cancer risks, and lack of understanding regarding benefits of genetic testing and available preventive measures (10, 14, 15). …”