Health Technology Assessment for Molecular Diagnostics: Practices, Challenges, and Recommendations from the Medical Devices and Diagnostics Special Interest Group.

BACKGROUND: Health technology assessments (HTAs) are increasingly used to inform coverage, access, and utilization of medical technologies including molecular diagnostics (MDx). Although MDx are used to screen patients and inform disease management and treatment decisions, there is no uniform approach to their evaluation by HTA organizations. OBJECTIVES: The International Society for Pharmacoeconomics and Outcomes Research Devices and Diagnostics Special Interest Group reviewed diagnostic-specific HTA programs and identified elements representing common and best practices. METHODS: MDx-specific HTA programs in Europe, Australia, and North America were characterized by methodology, evaluation framework, and impact. Published MDx HTAs were reviewed, and five representative case studies of test evaluations were developed: United Kingdom (National Institute for Health and Care Excellence's Diagnostics Assessment Programme, epidermal growth factor receptor tyrosine kinase mutation), United States (Palmetto's Molecular Diagnostic Services Program, OncotypeDx prostate cancer test), Germany (Institute for Quality and Efficiency in Healthcare, human papillomavirus testing), Australia (Medical Services Advisory Committee, anaplastic lymphoma kinase testing for non-small cell lung cancer), and Canada (Canadian Agency for Drugs and Technologies in Health, Rapid Response: Non-invasive Prenatal Testing). RESULTS: Overall, the few HTA programs that have MDx-specific methods do not provide clear parameters of acceptability related to clinical and analytic performance, clinical utility, and economic impact. The case studies highlight similarities and differences in evaluation approaches across HTAs in the performance metrics used (analytic and clinical validity, clinical utility), evidence requirements, and how value is measured. Not all HTAs are directly linked to reimbursement outcomes. CONCLUSIONS: To improve MDx HTAs, organizations should provide greater transparency, better communication and collaboration between industry and HTA stakeholders, clearer links between HTA and funding decisions, explicit recognition of and rationale for differential approaches to laboratory-developed versus regulatory-approved test, and clear evidence requirements.

Cost-effectiveness of expanded newborn screening in Texas.

OBJECTIVE: Texas House Bill 790 resulted in the expansion of the newborn screening panel from 7 disorders to 27 disorders. Implementation of this change began in 2007. The objective of this study was to estimate the incremental cost-effectiveness of the expanded newborn screening program compared with the previous standard screening in Texas. METHODS: A Markov model (for a hypothetical cohort of Texas births in 2007) was constructed to compare lifetime costs and quality-adjusted life-years (QALYs) between the expanded newborn screening and preexpansion newborn screening. Estimates of costs, probabilities of sequelae, and utilities for disorder categories were obtained from a combination of Texas statistics, the literature, and expert opinion. A baseline discount rate of 3% was used for both costs and QALYs, with a range of 0% to 5%. Analyses were conducted from a payer's perspective, and so only direct medical cost estimates were included. RESULTS: The lifetime incremental cost-effectiveness ratio for expanded versus preexpansion screening was about $11,560 per QALY. The results remained robust to both deterministic and probabilistic sensitivity analyses. CONCLUSIONS: Expanded newborn screening does result in additional expenses to the payer, but it also improves patient outcomes by preventing avoidable morbidity and mortality. The screened population benefits from greater QALYs as compared with the unscreened population. Overall, expanded newborn screening in Texas was estimated to be a cost-effective option as compared with unexpanded newborn screening.