ABSTRACT
Objective: Next-generation sequencing (NGS) technology, changing the diagnostic approach, has become essential in clinical settings, and its adoption by public health laboratories is now the practice. Despite this, as technological innovations, its intake requires an evaluation of both the clinical utility and the economic investment, especially considering the rare disease scenario. This study evaluated the analytical validity and the budget impact of an NGS-Ion Torrent™ approach for the molecular germline diagnosis of two musculoskeletal rare diseases. Methods: Two cohorts of 200 and 199 patients with suspect or clinical diagnosis of multiple osteochondromas (MO) and osteogenesis imperfecta (OI) previously evaluated with a single-gene diagnostic protocol were re-analyzed using a targeted NGS assay. Analytical validity was assessed by comparing NGS and single-gene protocol. A budget impact analysis using real-world cost data-considering the healthcare perspective- was performed by applying activity-based costing (ABC). The cost considered consumables, personnel, and equipment. Additional costs not related to NGS activities were not considered. Sensitivity analysis was performed. Results: The NGS method showed a higher (for MO) and comparable (for OI) diagnostic sensitivity than the traditional techniques, apart from always reducing the time and costs of diagnosis. Overall, the cost saving per patient is 765 for OI and 74 for MO. Materials represented the highest cost driver of the NGS process. A time saving-proportional to the panel size-has been assessed in both cases. Conclusions: Our targeted NGS diagnostic approach decreases time to diagnosis and costs, appearing to be beneficial and recommended both for patients and from a healthcare perspective in routine diagnosis also considering very small gene panels and a low patient flow. The adequate analytical sensitivity always required the additional Sanger sequencing step of the low- and non-covered regions. A more accurate strategy evaluation is suggested in the case of ultra-rare/complex diseases, large gene-panel, or non-reference diagnostic centers.
ABSTRACT
PURPOSE: Telephone coaching and health apps are effective means to support subjects with diabetes. Patient support programs (PSP) on type 2 diabetes are scanty, and none has been conducted in Italy. In a pilot phase, conducted during the COVID-19 pandemic, we aimed to examine the feasibility and acceptance of such program. METHODS: The "BE THere for diabetes CARE" (BETHCARE) project is a real-world PSP conducted through telephone and digital coaching system to provide educational and emotional support to Italian adults with diabetes receiving long-acting basal insulin degludec. This pilot phase was conducted in 11 centres that enrolled a total of 63 patients (89% with type-2 diabetes). Counselors contacted patients to define a set of emotional, physical and nutritional targets, and monitoring calls were performed on a monthly basis. Data were collected on socio-demographic and anthropometric characteristics, selected clinical information, quality of life, achievement of targets and patient satisfaction. RESULTS: Fifty-eight subjects (92%) chose to participate by telephone and 5 (8%) by mobile app. Most participants (ie, ≥80%) evaluated counselors' calls "useful/very useful", duration of calls "adequate/adequately long", were satisfied with the educational pathway and declared to be more confident in diabetes management after the program. About half of participants were confident to maintain their targets after the PSP. Achievement of nutritional targets improved during counseling, from a mean score of 1.56 at week 1 to 1.88 at week 16 (p-value = 0.03). No significant variations in the achievement of emotional and physical targets emerged. Mean patients weight decreased from 84.9 kg (week 1) to 84.3 kg (week 4) and then levelled off (84.2 kg, week 16). CONCLUSION: This project demonstrated the feasibility and patient appreciation of a PSP in diabetes care, which is particularly important for a chronic disease of the elderly and during a pandemic period when face-to-face counseling is problematic.
