The consequences of implementing non-invasive prenatal testing with cell-free foetal DNA for the detection of Down syndrome in the Spanish National Health Service: a cost-effectiveness analysis.

BACKGROUND: DNA-based non-invasive prenatal testing (NIPT) using maternal blood constitutes an emerging technology for the detection of Down syndrome (DS). The aim of the study was to conduct a cost-effectiveness analysis to evaluate the economic costs and health implications of the introduction of NIPT based on cell-free foetal DNA analysis through different screening strategies for the detection of DS. METHODS: An analytical short-term decision model was developed, from the payer´s perspective (Spanish National Health Service). The main outcome measure was the number of DS cases detected. Secondary measures included associated miscarriages, women undergoing current screening, women undergoing NIPT, positive NIPT and invasive procedures performed. The study setting was the Spanish National Health Service. Three strategies were compared: (a) first- and second-trimester screening (current screening); (b) NIPT as contingent testing; and (c) NIPT as first-line testing. Modelling was based on a hypothetical cohort of 100,000 Spanish pregnant women. Population data were obtained from the database of the Basque Antenatal Screening Programme. Deterministic sensitivity analyses were performed to assess variations in the cost of NIPT, screening risk cut-off, screening uptake-rate and rate of failure of NIPT. RESULTS: NIPT as contingent testing (strategy b) led to fewer miscarriages following invasive procedures and a slight reduction in the number of DS cases detected compared to current screening. However, lowering the screening cut-off to ≥ 1:500 would improve the overall effectiveness of NIPT as contingent testing, increasing the number of DS cases detected and decreasing foetal losses as compared to the current screening, despite there would be an extra-cost of 3.5%. When NIPT was used as first-line testing (strategy c), the screening would be more effective but also more expensive, with incremental cost-effectiveness ratios (ICERs) per additional case of DS detected of €1,299,763 and €1,232,763, compared with strategies a and b, respectively. Results were sensitive to the different parameters considered in the analysis. CONCLUSIONS: Both, as first-line testing and as contingent testing when screening cut-off was lowered ≥ 1:500, NIPT would lead to more favourable outcomes as compared to the current screening (both in terms of DS cases detected and miscarriages avoided), but at a greater cost.

Mortality in a cohort of complex patients with chronic illnesses and multimorbidity: a descriptive longitudinal study.

BACKGROUND: Certain advanced chronic conditions (heart failure, chronic lung disease) are associated with high mortality. Nevertheless, most of the time, patients with these conditions are not given the same level of attention or palliative care as those with cancer. The objective of this study was to assess mortality and its association with other variables in a cohort of complex multimorbid patients with heart failure and/or lung disease from two consecutive telemonitoring studies. METHODS: This multicentre longitudinal study was conducted between 2010 and 2015. We included 83 patients (27 without telemonitoring) with heart failure and/or lung disease with > 1 hospital admission in the previous year and great difficulties leaving home or were housebound. The following variables were indicators of their complex clinical condition: old age (mean: 81 years), comorbidity (Charlson Comorbidity Index score ≥ 2: 86.2%), both conditions concurrently (54.2%) and home oxygen therapy (52%). We assessed mortality (rate, cause and place of death) and its association with: age, sex, telemonitoring, functional status (Barthel score), quality of life (EQ-5D visual analogue scale), number of medications, and all-cause and condition-specific (due to conditions prompting inclusion) admissions during the previous year. Uni- and bivariate analysis and logistic regression were performed, considering p < 0.05 significant. RESULTS: A total of 61 patients died within 5 years, representing 31.2%/year (95% CI: 23-40.1%), considering the overall follow-up (sum of individual follow-up days). Of these, 81% of deaths (95% CI: 69.1-89-1%) were due to the condition prompting inclusion, and 83.3% (95% CI: 72-90.7%) died in hospital (median: 8.5 days). Mortality was lower among those under telemonitoring (p = 0.027), and with fewer condition-specific admissions the previous year (p = 0.006); the latter also showed the strongest association in the multivariate analysis (Exp(B) = 6.115). CONCLUSIONS: Complex patients with multimorbidity had a high mortality rate, generally dying due to the condition for which they had been included, and in hospital (83.3%). New approaches for managing such patients should be considered, introducing palliative care as required, and using more comprehensive predictors of mortality (functional status and quality of life), together with those related to the illness itself (previous admissions, progression and symptoms).

International collaboration in health technology assessment: a study of technologies used in management of osteoporosis.

A collaborative study was undertaken by members of the International Network of Agencies for Health Technology Assessment (INAHTA). The evidence of the effectiveness of bone density measurement and selected treatments in preventing fractures in later life was reviewed. There was fair evidence that bone density measurement can predict risk of fractures and that hormone replacement therapy and intranasal salmon calcitonin preserve bone mass and decrease the risk of fractures. However, it was estimated that only 1-7% of hip fractures would be prevented if these technologies were used in a screening program for menopausal women. Results of the assessment were endorsed by 13 INAHTA members, disseminated widely and provided input to policy and further work in this area. The project demonstrated the feasibility of international collaborative health technology assessment.

Preoperative evaluation in elective surgery. INAHTA synthesis report.

OBJECTIVES: To collect and summarize information published by INAHTA agencies on the indications, habitual attitudes and practices, and economic and legal implications of preoperative evaluation in elective surgeries. METHOD: The authors appraised the information contained in six papers published between 1989 and 1999 in Sweden, France, Basque Country, the Netherlands, United Kingdom, and Catalonia. The section on indications in preoperative evaluation does not present global conclusions. The sections addressing habitual attitudes and practices among physicians and those addressing economic and legal considerations cover only the similarities among the reports and the main ideas relating to these issues. RESULTS: The conclusions found in the reports about indications in preoperative evaluation are similar or differ slightly, e.g., as regards age limits in patients for whom the tests are recommended. However, more important differences are shown in other areas, especially in reports where consensus methods were used. In some instances, the opinions, attitudes, and customary practices of professionals during the preoperative stage do not concur with the recommendations extracted from the assessment reports and the customary practice of doctors. In relation to economic considerations, a substantial quantity of resources could be liberated if the recommended general clinical practices were followed. From the point of view of civil law, the evidence-based recommendations could be considered as a kind of coded lex artis.

The effectiveness of bone density measurement and associated treatments for prevention of fractures. An international collaborative review.

This review assesses the evidence regarding the effectiveness of bone density measurement (BDM) screening and related interventions--hormone replacement therapy (HRT) and intranasal salmon calcitonin (SCT[N])--in menopausal women to prevent fractures in later life. Data sources included systematic reviews of evidence and relevant primary studies identified through literature searches on MEDLINE and EMBASE. Study selection included trials of BDM screening programs, prospective studies examining the predictive value of BDM, randomized controlled trials, cohort studies, and case-control studies of HRT and SCT (N). The evidence was evaluated using a classification system incorporating study design and quality. Outcomes were measured in terms of relative risk of fracture for a 1 SD decrease in bone mineral density below the age-adjusted mean, relative risks or odds ratios for fractures associated with treatments, and proportion of hip fractures potentially prevented by BDM screening linked to treatments. Fair evidence from prospective cohort studies suggests that BDM can predict the risk of fractures, but not with high accuracy. Fair evidence from low-quality randomized controlled trials and observational studies suggests that HRT and SCT(N) are efficacious in preventing fractures. Good evidence supports the efficacy of these treatments in preserving bone mass, but there is fair evidence that the effect wears off after cessation of therapy. There is little evidence on the impact of screening menopausal women with BDM in association with HRT or SCT(N) treatment. Estimates based on combining existing evidence regarding the predictive value of BDM and efficacy of HRT suggests that 1-7% of hip fractures might be prevented.

Health technology assessment in Spain.

The Spanish Constitution of 1978 established a healthcare system available to everyone and free at the point of service. The General Health Law of 1986 also established the framework for a National Health System (NHS). The Constitution and the law form the regulatory framework for the devolution of healthcare services to the Autonomous Regions. All the 17 Autonomous Regions have complete power regarding public health and planning. However, responsibilities on healthcare financing, organization, provision, and management have devolved to only seven Autonomous Regions. Financial support for health services comes mostly from taxes. Global budgets are a mechanism used by hospitals to control the acquisition of medium and low health technology. Major capital investments for health technology are controlled by the central government in 10 Autonomous Regions (population coverage of 38%) and by the Regional Health Services in the seven remaining Autonomous Regions. In 1995 a regulation for basing the introduction of new procedures and medical equipment on the assessment of safety, efficacy, and efficiency was issued. Health technology assessment (HTA) has a long history in Spain, beginning with the Advisory Board on High Technology in the government of Catalonia in 1984. This board evolved into the Catalan Agency for HTA (CAHTA) in 1994. The Basque Country established a unit for HTA in 1992 (Osteba) and the Andalusian government created an agency in 1996 (AETSA). A national agency for HTA (AETS) was established in 1994. These different programs coordinate their work and together act as an Advisory Committee of the Interregional Council of the NHS.

[Study of the efficiency of a non-mydriatic retinal camera in the diagnosis of diabetic retinopathy]. / Estudio de la eficiencia de una cámara de retina no-midriática en el diagnóstico de retinopatía diabética.

Diabetic retinopathy is one of the most important causes of blindness. Diabetic patients do not attend outpatient clinics with the necessary regularity for an early diagnosis of the most severe forms of retinopathy. A program was planned to compare the efficiency of a 45 degrees non-mydriatic retinal camera with a Polaroid instant film versus biomicroscopy with a 78D lens and reverse image ophthalmoscope (standard method) in the diagnosis of the presence and evolutive degree of retinopathy. In a cross-sectional epidemiologic study a questionnaire was administered to 258 randomly selected diabetic patients, 129 with and 128 without retinopathy. Information was collected of demographics, visual acuity, diabetes and resources used with each method. The eye fundus with the poorest visual acuity was examined to determine the presence and evolution of retinopathy with the two diagnostic methods. The photographic method had an overall sensitivity of 91.1%, a specificity of 89.7% and a level of agreement of 82% with the standard method. A cost-effective analysis revealed a decrease of 35.7% in the cost per true positive case detected with the photographic methods versus the standard method. The 45 degrees non-mydriatic retinal camera had a similar efficiency to the standard method used in our setting for the diagnosis of diabetic retinopathy, which together with a lower cost per patient renders this method advisable for its use in medical settings that usually control for potential ophthalmologic complications resulting from diabetes mellitus.