Background Traditionally, the economic value of health technologies is assessed with cost-effectiveness (CE) and budget impact (BI) analyses. However, the evaluation of rare disease therapies often considers novel value criteria. Multi-criteria decision analysis (MCDA) is a promising tool in the assessment of value criteria that typically cannot be captured with traditional approaches. Objectives The objective of this research was to investigate the criteria and scoring functions applied in value frameworks and MCDA tools relevant to the evaluation of rare disease therapies. The aim was to gain a better understanding of the domains and measurement of commonly referenced novel value criteria. Methods A systematic literature review was performed covering the period from 2013 to 2019. MCDA or value framework articles and structured review papers on orphan-drug-specific MCDA articles were reviewed. Information sources included MEDLINE, Embase, Scopus, and 26 other gray literature sources. A descriptive review of identified criteria and scoring functions was performed, with special focus on "novel" value criteria that are traditionally not considered in CE or BI analyses. Results In total, 15 relevant value frameworks and MCDA tools were identified. These studies included a large number (n = 56) of individual value criteria. The most commonly included novel criteria were unmet medical need, severity of disease, and reduction in uncertainty. The identified scoring functions (measurement methods) for novel criteria were highly heterogeneous and tailored. Standardized scoring functions were not observed. Additionally, the studies did not provide their rationale for choosing a specific scoring function for a criterion. Conclusions MCDA is a promising tool to include novel value criteria into the health technology assessment of therapies for rare diseases. To support the development of a transparent and justified evaluation process, scoring functions should be further investigated.

Actionable drug-gene pairs relevant to depression treatment include CYP2D6 and CYP2C19 with specific antidepressants. While clinical use of pharmacogenetic testing is growing, little is known about pharmacogenetic testing for depression treatment in managed care. We determined the incidence of single-gene CYP2D6 and CYP2C19 testing following a new depression episode among US managed care patients, and described characteristics and antidepressant use of patients receiving tests. We used paid medical and pharmacy claims for patients from commercial health plans in the US. For adult patients with a new depression episode from January 1, 2013 to June 30, 2018, we identified covered claims for single-gene CYP2D6 and CYP2C19 pharmacogenetic tests and antidepressant fills. Fewer than 1% (n = 1795) of the depressed cohort (n = 438,534) received a single-gene CYP2D6 or CYP2C19 test through their insurance within 365 days of their earliest depression episode. The percentage of patients who received a test nearly tripled from 0.2% in 2013 to 0.5% in 2014 before plateauing at 0.4% from 2014 to 2017. Among the patients who received a single-gene CYP2D6 or CYP2C19 test and filled an antidepressant within 365 days of their depression diagnosis, up to 30% may have had their initial antidepressant informed by the test result. Our findings describe the use of antidepressants before and after pharmacogenetic testing, which is clinically relevant as pharmacogenomic testing becomes more common in clinical practice. Our study also emphasizes the need for procedure and billing codes that capture multiple-gene panel tests to be more widely implemented in administrative databases. Study Highlights WHAT IS THE CURRENT KNOWLEDGE ON THE TOPIC?Major depressive disorder is common and many patients do not respond to first-line treatment. Examples of actionable drug-gene pairs relevant to antidepressants include CYP2D6 and CYP2C19, yet little is known about the extent of pharmacogenetic testing for depression treatment in managed care. How to cite this article: Anderson HD, Thant TM, Kao DP, et al. Pharmacogenetic testing among patients with depression in a US managed care population.

Background and Objective Several novel methods have been suggested to extend a conventional value assessment to capture a more comprehensive perspective of value from a patient perspective. The objective of this research was to demonstrate a framework for implementing a combined qualitative and quantitative method to elicit and prioritize patient experience value elements in rare diseases. Neuromyelitis optica spectrum disorder was used as a case study. Methods The method for eliciting and prioritizing patient experience value elements involved a three-step process: (1) collecting potential patient experience value elements from existing literature sources followed by deliberation by a multistakeholder research team; (2) a pre-workshop webinar and survey to identify additional patient-reported value elements; and (3) a workshop to discuss, prioritize the value elements using a swing weighting method. Outcomes were prioritized value elements with normalized weights for patients considering a treatment for neuromyelitis optica spectrum disorder. Results A literature review and deliberation resulted in the following initial value elements: ability to reach important personal milestones, patient's financial burden, value of hope/balance or timing of risks and benefits, Uncertainty about long-term benefits and safety of the treatment, Patient empowerment through therapeutic advancement and technology, Caregiver/family's financial burden, patient experience related to treatment regimen, Therapeutic options, and Caregiver/ family's quality of life. Eight patients with neuromyelitis optica spectrum disorder participated in the case study. In the online survey, participants found the nine proposed patient experience value elements both understandable and important with no additions. During the workshop, 'Uncertainty about long-term benefits and safety,' 'Patient experience related to treatment regimen,' and 'Patient's financial burden' were found to be the most important patient experience value elements, with a respective weight of 25%, 19.2%, and 14.4% (out of total 100%). Conclusions This case study provides a framework for eliciting and prioritizing patient experience value elements using direct patient input. Although elements/weights may differ by disease, and even in neuromyelitis optica spectrum disorder, additional research is needed, value frameworks, researchers, and manufacturers can use this practical method to generate patient experience value elements and evaluate their impact on treatment selection.

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