1,720,978 research outputs found
How should genetic tests be evaluated? Final Results of a systematic review of the existing
No full textAvailable data on immunogenicity and safety of meningococcal B vaccine in children and adolescents
No full textBackground
Neisseria meningitidis serogroup B is the most common etiological agent of meningococcal invasive disease in Europe. A multicomponent vaccine against meningococcal serogroup B (4CMenB) has been licensed since 2013 in different European countries, with various immunization schedules. We are conducting a meta-analysis aimed to assess the immunogenicity and safety of 4CMenB on children and adolescents.
Methods
We searched MEDLINE, Scopus and Clinicaltrals.gov databases for all published and unpublished randomized clinical trials (RCTs) comparing the immunogenicity and safety of 4CMenB against controls. We plan to perform head-to-head and proportion meta-analyses.
Results
We retrieved a total of 22 RCTs published between 2010 and 2016. 16 trials met the inclusion criteria: 12 included healthy children aged 2-60 months, 4 focused on adolescents aged 11-17 years. 2 out of 16 studies compared the immunogenicity and safety of 4CMenB against placebo, one against placebo followed by the MenACWY vaccine, one against MenC vaccine, two against routine vaccinations, two studies were lot-to-lot comparisons and all the others compared 4CMenB with the previously developed recombinant Meningococcal B vaccine (rMenB). In all studies, immunogenicity data were based on the analysis of bactericidal antibody titers against meningococcal serogroup B strains, performed 1 month after the final dose. 5 studies evaluated the persistence of bactericidal antibodies in preschool children. The strains used by all authors to asses immunogenicity were 44/76-SL, 5/99 and NZ 98/254.
Conclusions
Several studies have been published on the immunogenicity and safety of 4CMenB on children and adolescents, but they are heterogeneous in terms of populations and schedules. Data on the persistence of bactericidal antibodies are scarce.
Key messages:
Available studies on meningococcal B vaccine are extremely heterogeneous and a quantitative synthesis of available evidence is challenging
Additional studies are needed to address the persistence of immunogenicity in vaccinated children, including trials sponsored by non-industry agencie
How should genetic tests be evaluated? Preliminary results of a systematic review
No full textBackground
Genetic tests are becoming increasingly available for clinical decision making, ushering in the era of personalized medicine. However, their implementation in clinical practice must be underpinned by a rigorous evaluation of their actual benefits. For this purpose, several evaluation tools have been developed. The aim of this study is to identify and compare the existing tools for assessments of genetic tests, taking into account their methodology and evaluation criteria.
Methods
A systematic review of the literature has been carried out through PUBMED, SCOPUS, ISI Web of Knowledge, Google and grey literature sources using the following inclusion criteria: research articles, systematic reviews, documents of eminent scientific societies, government agencies and research organizations focused on evaluation tools for genetic test. A DELPHI survey, undertaken with international experts in Public Health Genomics, will be performed to reach consensus on data extraction.
Results
Preliminary results consist of 19 tools published between 2000 and 2012 (10 in USA, three in Canada, six in Europe), mostly based on the ACCE model (n.10 tools) and on the HTA model (n.5 tools). Sixteen tools address all types of genetic test, while the others take into account a specific type of genetic test (newborn screening, predictive genetic tests, genetic susceptibility tests). The evaluation criteria adopted by the vast majority of the tools (n.16 tools) are analytic and clinical validity, clinical utility, ethical legal and social issues. At a glance, the evaluation of the economic aspects seems insufficient.
Conclusions
The comparative analysis of the strengths and weaknesses of the retrieved evaluation tools will be the basis for the choice of the most appropriate process of genetic test evaluation that should take into account national and local contexts.
Key messages
Our preliminary search has retrieved 19 tools for the evaluation of genetic tests, developed in the last fifteen years
This systematic review will provide the basis for adapting comprehensive and appropriate processes of genetic test evaluation to the different national and local contexts
The cost-effectiveness of genetic screening for familial hypercholesterolemia: a systematic review
No full textFamilial hypercholesterolemia (FH) is a genetic disorder that leads to elevated plasma LDL-cholesterol levels and premature coronary heart disease (CHD). An understanding of the mutations responsible for FH and the effectiveness of statins in lowering the risk of CHD in FH patients has increased interest in genetic screening strategies to improve FH diagnosis. In this study, we aimed to evaluate the cost-effectiveness of such strategies
A social prescriptions formulary: bringing social prescribing on par with pharmaceutical prescribing
Full text linkSocial prescribing is a way of linking patients in primary care with sources of support within the community to help improve their health and well-being[...] Schemes commonly use services provided by the voluntary and community sector and can include an extensive range of practical information and advice, community activity, physical activities, befriending and enabling services
Modelli organizzativi di offerta di test genetici predittivi: risultati preliminari di una revisione sistematica della letteratura e proposta di un protocollo di studio multicentrico europeo.
No full textIntroduzione: La genomica in sanità pubblica, come è noto, è un ambito multidisciplinare che ha stabilito basi scientifiche
per una corretta implementazione dei progressi della genomica nella pratica clinica e di sanità pubblica.Tuttavia,
tale implementazione è ancora nelle fasi iniziali con numerosi quesiti non ancora risolti. L’obiettivo di questo studio è
l’identificazione e la valutazione
dei modelli organizzativi per l’offerta dei test genetici predittivi in Europa.
Metodi: Una prima revisione sistematica della letteratura è stata condotta su Pubmed, Scopus, ISI, Google e Google scholar,
utilizzando diversi criteri di inclusione: articoli pubblicati nel periodo 2000-2015; in inglese e in italiano; condotti in Europa e
nei paesi extra-europei (Canada, USA, Australia e Nuova Zelanda). I documenti di policy sono stati reperiti su siti web specifici.
Risultati: Sono stati per ora inclusi 89 articoli, dei quali 23 studi pilota. La revisione sistematica della letteratura ha consentito
di identificare come principali modelli organizzativi di offerta, servizi multidisciplinari per malattie rare gestiti primariamente
da genetisti; collaborazioni interdisciplinari tra specialisti (oncologi, cardiologi, neurologi, etc) o medici di assistenza primaria
e genetisti; offerta diretta del test ai pazienti.
Conclusioni: La preliminare revisione sistematica della letteratura ha consentitio di definire meglio il protocollo dello
studio multicentrico europeo, che prevede anche interviste semi-strutturate a testimoni privilegiati/esperti dei paesi partner
del progetto (Italia, Spagna, Ungheria, Olanda, Regno Unito, Canada), nonché una survey cross-sectional tra i membri
dell’European Public Health Association (EUPHA). Lo studio fornirà un contributo alla descrizione e alla valutazione dei
modelli più idonei per la fornitura di test genetici predittivi
How do patients experience genetic testing? Survey on patients tested for cancers and thrombophilia
No full textBackground
Variation in patients’ experience of genetic services may affect their willingness to undergo testing and to participate in posttest disease prevention. The aim of this study was to investigate the main factors that may influence how patients experience genetic testing and post-testing care pathways.
Methods
Telephone surveys were administered to 370 individuals who underwent testing for APC, BRCA1/2, or inherited thrombophilia (FV Leiden and/or FIIG20210A). Outcomes (selfreported) were patient satisfaction with genetic counselling, patient perception of collaboration between actors in and out of the genetic service, and the impact of genetic testing on patient quality of life. Logistic regression analyses were used to assess determinants that could affect these outcomes.
Results
The response rate was 64% (237/370). Respondents included 33 tested for APC, 104 for BRCA1/2, and 100 for inherited thrombophilia. The majority of patients receiving counselling were satisfied with both pre-test (100% APC; 98% BRCA; 86% FVL/FII) and post-test (97% APC; 98% BRCA; 60% FVL/FII) sessions. Patients tested for cancer susceptibility reported significantly higher levels of satisfaction than those tested for thrombophilia in both pre-test (98 vs 86%; p<.001) and posttest counselling (98 vs 60%; p<.001). Face-to-face counselling was associated with more satisfaction than other counselling options. Patients tested for cancer susceptibility reported more perceived collaboration between health providers than those tested for thrombophilia (OR = 2.53; 95% CI = 1.23-5.23), and were also more likely to report improvement in life quality after testing (OR = 2.58; 95% CI = 1.22-5.47).
Conclusions
Patients show high satisfaction with genetic testing and tend to perceive their care pathways as integrated. The perceived quality of testing is significantly associated with the type of genetic disease.
Key messages:
Genetic counseling, management of genetic care paths and overall experience of undergoing genetic testing were judged more positively by patients tested for cancer than those tested for thrombophilia
Patients’ perceptions may be influenced by the appropriateness and clarity of guidelines for different types of genetic tests
Quali sono i percorsi organizzati di screening per il tumore della mammella su base genetica pronti per essere implementati nella pratica clinica? Una revisione sistematica della letteratura
No full textUno degli obiettivi del Piano Nazionale della Prevenzione 2014-2018 è quello di implementare di percorsi organizzati di
screening per pazienti ad alto rischio eredo-familiare di cancro della mammella (mutazioni nei geni BRCA1/2). Il processo di
implementazione prevede una prima fase di programmazione, ma, ad oggi, quali sono i programmi di screening costo-efficaci
a cui le Regioni possono ispirarsi? È stata condotta una revisione sistematica delle valutazioni economiche complete (VE) sui
programmi di screening eredo familiari per cancro di mammella e ovaio. Sono stati inclusi gli studi che prevedono l’utilizzo del
test genetico BRCA in una determinata popolazione target e conseguenti percorsi assistenziali specifici post-test basati sullo
stato di portatore e sul rischio familiare. Nove studi sono stati inclusi nella revisione. Tre VE hanno analizzato l’utilizzo del test
genetico nello screening di popolazione tra le donne di etnia Ashkenazita (cost-saving-8.300
per LYGs). Tre VE hanno valutato la costo-efficacia dello screening basato sulla storia clinico-familiare, in cui solo le donne
con alto rischio di tumore ereditario sono sottoposte a test genetico (3.500 per QALYs). Due VE hanno analizzato
lo screening a cascata sui parenti del portatore della mutazione (832-32.018 per QALYs). Solo una VE ha
studiato la prevenzione delle recidive in donne con carcinoma della mammella (8.084-112.908$ per QALYs). Nonostante
i principali percorsi di screening (di popolazione, basato sulla valutazione del rischio clinico-familiare, a cascata) descritti
in letteratura siano tutti ritenuti costo-efficaci, evidenze di costo-efficacia dimostrata esistono soprattutto per lo screening a
cascata. La pianificazione di programmi regionali di screening per carcinoma eredo-familiare della mammella deve tenere
conto delle evidenze di costo-efficacia esistenti
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