Abstract 5288: MPNST treatment and diagnosis in NF1: A health economic model

Abstract

Abstract Biomarkers have many applications along the care process in rare cancers and have potential to optimize treatment decisions. However, many diagnostic tests struggle to gain market access and appropriate value in terms of payer coverage because of a lack of evidence on their health economic benefit to patients. CMS reimbursement guidelines, of cost-plus pricing for diagnostics does not always work for niche small rare disease subpopulations. Nor does it reflect the lifelong value of effective patient care. To address this, we have developed a cost benefit model for early diagnostic intervention, based on retrospective data to determine mutation status and monitor for disease progression in people diagnosed with neurofibromatosis type 1 (NF1) and soft tissue tumors. NF1 is an autosomal dominant hereditary cancer syndrome that affects around 1:2,500 people and is caused by mutations in the NF1 gene. 50% of patients can have few to many neurofibroma which vary in clinical behavior from benign to malignant. About 10% of people can develop malignant peripheral nerve sheath tumors (MPNSTs) thought to develop from pre-existing benign neurofibroma. Currently, there is no reliable way of knowing which individual and which tumors are malignant. MPNSTs are often difficult to diagnose in the early phases with current imaging methods like CT or MRI. Overall, these patients face a lifetime risk of cancer up to 16-26% higher than the normal population. Once metastasizes MPNSTs are associated with poor prognosis, less than 25% survival rate at 5 years. We built a model used retrospective anonymized patient treatment records to demonstrate cost and risk based benefits to patients, payers and clinical practitioners, on the effect of early intervention versus late on treatment cost, and patient outcome in the long-term care process. For NF1 patients. In conclusion, our model proposes a new framework to engage healthcare insurers and managed care physician groups in the US to quantify the health economic benefits of prognostic biomarker tests in patient populations with a lifelong genetic predisposition to cancer. Citation Format: Lydia Turkson, Hannah Mamuszka, Kyla Grimshaw, Erica Marie Marshall. MPNST treatment and diagnosis in NF1: A health economic model [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2018; 2018 Apr 14-18; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2018;78(13 Suppl):Abstract nr 5288.