Open AccessEvaluating the impact of universal Lynch syndrome screening in a publicly funded healthcare system
Author(s) -
Lee Petra W. C.,
Bedard Angela C.,
Samimi Setareh,
Beard Vivienne K.,
Hong Quan,
Bedard James E. J.,
Gilks Blake,
Schaeffer David F.,
Wolber Robert,
Kwon Janice S.,
Lim Howard J.,
Sun Sophie,
Schrader Kasmintan A.
Publication year - 2020
Publication title -
cancer medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.403
H-Index - 53
ISSN - 2045-7634
DOI - 10.1002/cam4.3279
Subject(s) - lynch syndrome , carrier testing , genetic testing , medicine , family medicine , universal health care , universal design , inclusion (mineral) , mlh1 , universal coverage , health care , public health , dna mismatch repair , cancer , pathology , computer science , health policy , genetics , biology , psychology , colorectal cancer , world wide web , economic growth , prenatal diagnosis , social psychology , fetus , pregnancy , economics
Purpose Referrals for Lynch syndrome (LS) assessment have traditionally been based on personal and family medical history. The introduction of universal screening practices has allowed for referrals based on immunohistochemistry tests for mismatch repair (MMR) protein expression. This study aims to characterize the effect of universal screening in a publicly funded healthcare system with comparison to patients referred by traditional criteria, from January 2012 to March 2017. Methods Patient files from the time of initiation of universal screening from 2012 to 2017 were reviewed. Patients were sorted into two groups: (a) universally screened and (b) referred by traditional methods. Mutation detection rates, analysis of traditional testing criteria met, and cascade carrier testing were evaluated. Results The mutation detection rate of the universal screening group was higher than the traditionally referred group (45/228 (19.7%) vs 50/390 (12.5%), P = .05), though each were able to identify unique patients. An analysis of testing criteria met by each patient showed that half of referred patients from the universal screening group could not meet any traditional testing criteria. Conclusion The implementation of universal screening in a publicly funded system will increase efficiency in detecting patients with LS. The resources available for genetic testing and counseling may be more limited in public systems, thus inclusion of secondary screening with BRAF and MLH1 promoter hypermethylation testing is key to further optimizing efficiency.