Cost‐effectiveness of early cancer surveillance for patients with Li–Fraumeni syndrome

Abstract

Introduction Patients with germline TP53 pathogenic variants (Li–Fraumeni syndrome [LFS]) are at extremely high lifetime risk of developing cancer. Recent data suggest that tumor surveillance for patients with LFS may improve survival through early cancer detection. The objective of this study was to assess the cost‐effectiveness of a cancer surveillance strategy for patients with LFS compared with those whose tumors present clinically. Methods A Markov decision analytic model was developed from a third‐party payer perspective to estimate cost‐effectiveness of routine cancer surveillance over a patient's lifetime. The model consisted of four possible health states: no cancer, cancer, post‐cancer survivorship, and death. Model outcomes were costs (2015 United States Dollars [USD]), effectiveness (life years [LY] gained), and incremental cost‐effectiveness ratio (ICER; change in cost/LY gained). One‐way sensitivity analyses and probabilistic sensitivity analyses examined parameter uncertainty. Results The model showed a mean cost of $46 496 and $117 102 and yielded 23 and 27 LY for the nonsurveillance and surveillance strategies, respectively. The ICER for early cancer surveillance versus no surveillance was $17 125 per additional LY gained. At the commonly accepted willingness to pay threshold of $100 000/life‐year gained, surveillance had a 98% probability of being the most cost‐effective strategy for early cancer detection in this high‐risk population. Conclusions Presymptomatic cancer surveillance is cost‐effective for patients with germline pathogenic variants in TP53. Lack of insurance coverage or reimbursement in this population may have significant consequences and leads to undetected cancers presenting in later stages of disease with worse clinical outcomes.

Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors

“…Potential cost savings exist through cancer screening and early detection, prevention, PGT and potentially more effective therapeutics; however, there are also significant costs associated with each of these in addition to the costs of sequencing and clinical genetics visits. Studies of cost-effectiveness in this area to date have focused on individual pieces of this process, for example, cancer screening in patients with LFS 37 . The full analysis of the effects of pan-pediatric cancer germline sequencing will require long-term follow-up, as costs may be largely up front (that is, sequencing), while cost savings may not be realized for many years (that is, through early tumor detection associated with need for less treatment).…”

Whole‐body magnetic resonance imaging as surveillance for subsequent malignancies in preadolescent, adolescent, and young adult survivors of germline retinoblastoma: An update

“…Importantly, 5‐year overall survival was 88.8% (95% CI, 78.7‐100) among those who agreed to participate in this comprehensive screening program, versus 59.6% (47.2‐75.2) among those who did not ( P = .01) 8 . This approach has also been found to be cost effective among high‐risk individuals with LFS 21 …”

“…8 This approach has also been found to be cost effective among high-risk individuals with LFS. 21 Yet the data are less clear when considering WB-MRI surveillance as a solitary screening modality for individuals with cancer predisposition. A recent meta-analysis of baseline WB-MRI surveillance in 578 participants with LFS from 13 cohorts in six countries demonstrated that 225 lesions requiring clinical follow up were detected in 173 participants.…”

Recommendations for Advancing the Diagnosis and Management of Hereditary Breast and Ovarian Cancer in Brazil

“…79,80 Presymptomatic cancer surveillance is cost effective for patients with germline pathogenic variants in TP53. 81 Risk-reduction surgery and intensive breast screening were cost effective in models of BRCA carrier risk management. 82 In Brazil, BRCA1/BRCA2 diagnostic and management strategies for patients with OC were considered cost effective but only when cancer-unaffected relatives of OC mutation carriers were included in the model.…”