Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: Summary of a public health/clinical collaborative meeting

Abstract

Lynch syndrome is the most common cause of inherited colorectal cancer, accounting for approximately 3% of all colorectal cancer cases in the United States. In 2009, an evidence-based review process conducted by the independent Evaluation of Genomic Applications in Practice and Prevention Working Group resulted in a recommendation to offer genetic testing for Lynch syndrome to all individuals with newly diagnosed colorectal cancer, with the intent of reducing morbidity and mortality in family members. To explore issues surrounding implementation of this recommendation, the Centers for Disease Control and Prevention convened a multidisciplinary working group meeting in September 2010. This article reviews background information regarding screening for Lynch syndrome and summarizes existing clinical paradigms, potential implementation strategies, and conclusions which emerged from the meeting. It was recognized that widespread implementation will present substantial challenges, and additional data from pilot studies will be needed. However, evidence of feasibility and population health benefits and the advantages of considering a public health approach were acknowledged. Lynch syndrome can potentially serve as a model to facilitate the development and implementation of population-level programs for evidence-based genomic medicine applications involving follow-up testing of at-risk relatives. Such endeavors will require multilevel and multidisciplinary approaches building on collaborative public health and clinical partnerships.

Which Lynch syndrome screening programs could be implemented in the “real world”? A systematic review of economic evaluations

“…The broad variability of these parameters results from a lack of data on the implementation of each activity in specific clinical contexts. 10,61 Indeed, several factors, such as the specific features of the health-care system, differences in the genetic testing delivery model and the approaches used to contact and test relatives at risk of LS, cost limitations, and ethical considerations, may impact screening rates. 62 Furthermore, several patient-related aspects could also affect the uptake of genetic testing: for example, socioeconomic status, family communication barri`ers and psychosocial inhibitions involved in informing relatives, and the family history of cancer.…”

“…62,63 Our systematic review can help inform health decision makers of the opportunities and challenges involved in integrating LS screening in public health policies. 10,64 Compared with previous reviews, 12,13 ours is a more comprehensive classification of all cost-effective LS screening programs and we assessed their feasibility within the related health-care contexts. We considered all target populations examined in the economic studies to provide a broad overview of the various available LS screening programs.…”

“…10 As evidenced by the results of a systematic review on BRCA genetic testing programs, economic evaluations may allow an assessment of genetic screening programs in terms of both their cost and effectiveness and their readiness for implementation. 11 Two previous systematic reviews 12,13 of LS economic evaluations have argued that universal LS screening is costeffective compared with not performing genetic testing (no screening), but not necessarily compared with selective or age-targeted testing strategies.…”

“…8,9 Therefore, the widespread implementation of a successful LS screening program will require a strongly integrated multidisciplinary 1 public health approach, 9 including a careful evaluation of the appropriate use of available economic resources. 10 As evidenced by the results of a systematic review on BRCA genetic testing programs, economic evaluations may allow an assessment of genetic screening programs in terms of both their cost and effectiveness and their readiness for implementation. 11 Two previous systematic reviews 12,13 of LS economic evaluations have argued that universal LS screening is costeffective compared with not performing genetic testing (no screening), but not necessarily compared with selective or age-targeted testing strategies.…”

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis)

“…[11][12][13][14] The average age of onset for CRC in Lynch syndrome is 61 years. The age of diagnosis of Lynch syndrome-associated endometrial cancer is 46-62 years.…”