Creation of a Network to Promote Universal Screening for Lynch Syndrome: The Lynch Syndrome Screening Network

Abstract

The Evaluation of Genomic Applications in Practice and Prevention Working Group published an evidence-based recommendation stating that every newly diagnosed colorectal cancer (CRC) should undergo tumor screening for Lynch syndrome (LS). In 2011, leading cancer institutions and public health agencies created the Lynch Syndrome Screening Network (LSSN) in order to promote routine LS screening on all newly diagnosed CRCs and endometrial cancers (EC). The LSSN facilitates implementation of appropriate screening via shared resources, protocols and data through network collaboration. The LSSN website contains resources for institutions interested in initiating screening, including materials for program development, implementation and sustainability. The LSSN listserv gives providers access to experts in LS screening and implementation. The LSSN database will allow exploration of key gaps in implementation as a consortia-wide endeavor. To date, the LSSN’s membership includes 85 institutions involved in the care of CRC patients and nine official partners such as national and state public health entities and other non-profit institutions. Nearly 80 % of the LSSN’s members have already implemented routine or universal CRC and/or EC screening. LSSN serves to further the population health potential of universal LS screening through collaborative efforts and resources.

Heterogenous MSH6 Loss Is a Result of Microsatellite Instability Within MSH6 and Occurs in Sporadic and Hereditary Colorectal and Endometrial Carcinomas

“…2,5 Identification of these persons is important for surveillance and early diagnosis of tumors in index cases, as well as their family members. 6,7 Consequently, universal screening of newly diagnosed colorectal and endometrial carcinoma cases 8,9 has become part of guidelines proposed by the National Comprehensive Cancer Network. 10 Screening is accomplished with immunohistochemistry or PCR-based assays.…”

“…In 13 (86%) of these 15 successful cases, frameshift mutations in the polycytosine tract (ie, C8 instability) were observed from DNA extracted from areas of MSH6 loss (Figs. 7,8).…”

Evaluating the impact of universal Lynch syndrome screening in a publicly funded healthcare system

“…6 Universal screening is regarded as a more inclusive referral method compared to traditional methods, and is more consistent when used in the place of family health history. 7,8 A concern with universal screening is the cost of testing every tumor, but studies show that the process is relatively cost effective and quite beneficial. 1,5,8,9 MMR deficiency offers predictive utility with respect to use of 5FU monotherapy and immunotherapy with PD-1/PDL-1 antibodies.…”

Universal tumor screening for Lynch syndrome: Perceptions of Canadian pathologists and genetic counselors of barriers and facilitators

“…Despite the calls for universal screening programs, however, there is variable uptake of reflex testing and heterogeneity in practice . In the UK, for example, screening for LS in the National Health Service is “patchy and inconsistent” with a variety of screening protocols in use across institutions .…”

“…11,19 Despite the calls for universal screening programs, however, there is variable uptake of reflex testing and heterogeneity in practice. [20][21][22][23][24] In the UK, for example, screening for LS in the National Health Service is "patchy and inconsistent" with a variety of screening protocols in use across institutions. 25 In the US, driven in part by the Healthy People 2020 policy objective "to increase the proportion of persons with newly diagnosed CRC who receive genetic testing to identify Lynch syndrome," universal screening has been implemented regionally by over 30 health systems and on a statewide basis in Ohio.…”