Economic Analysis of Germline Genetic Testing to Assess for Hereditary Colorectal Cancer: A Systematic Review

Speaker(s)

Johnson H1, Hartzfeld D1, Peters ML2, Xiao J3, Berksoy E3, Kirshner C3, Sancar F1, Leach B1, Cox H1, Thompson G1, Kong J1, Thakkar S1, Cuyun Carter G1
1Exact Sciences Corporation, Madison, WI, USA, 2Massachusetts General Brigham, Boston, MA, USA, 3Value Analytics Labs, Boston, MA, USA

Presentation Documents

OBJECTIVES: Over the last decade, germline genetic testing (GGT) has been increasingly leveraged to guide clinical decision-making among patients with and genetically predisposed to cancer. The extent to which GGT has influenced the economics of cancer is not fully understood. Thus, the objective of this study was to evaluate the economic effects of GGT among adults with colorectal cancer (CRC), those at increased risk of CRC, and healthy individuals.

METHODS: Following PRISMA methodology, we searched PubMed-Medline and Embase and bibliographic citations to identify manuscripts that assessed clinical, economic, and humanistic outcomes in CRC patients and those at risk of CRC, published after January 2013. We included studies if GGT was analyzed as a clinical scenario without the use of tumor screening or testing.

RESULTS: This analysis presents the economic outcomes of the study. Of 9,342 articles screened, 16 articles were included from nine countries; eight were published before 2020. All articles focused on GGT’s impact on patients with Lynch Syndrome (LS). Thirteen studies evaluated the cost-effectiveness of GGT, using different willingness-to-pay (WTP) thresholds and assumptions for test cost, population, comparator, and whether family history and/or clinical criteria was used to determine higher risk groups. Not all studies included downstream costs following testing. Nine studies included patients with CRC, three studies included healthy individuals, and two studies included both; nine studies included cascade testing. Ten of 13 studies found a clinical scenario where use of GGT was cost-effective based on a $150,000 WTP threshold.

CONCLUSIONS: Despite the high level of heterogeneity among studies, the majority found GGT to be cost-effective. The identified literature was specific to CRC in the context of LS; therefore, there is a need for further research to assess the potential value of panel testing to include other hereditary syndromes associated with CRC risk

Code

SA21

Topic

Economic Evaluation, Medical Technologies, Study Approaches

Topic Subcategory

Cost-comparison, Effectiveness, Utility, Benefit Analysis, Diagnostics & Imaging, Literature Review & Synthesis

Disease

Gastrointestinal Disorders, Oncology