Abstract
| Original language | English |
|---|---|
| Pages (from-to) | 1-48 |
| Number of pages | 48 |
| Journal | Giornale Italiano di Health Technology Assessment & Delivery |
| Volume | 11 |
| Issue number | Suppl. 1 |
| Publication status | Published - 2018 |
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Health Technology Assessment Of The Genetic Tests For Cystic Fibrosis Carrier Screening in Italy. / Vukovic, V.; Calabrò, G. E.; Agodi, A.; Baffico, M.; Barchitta, M.; C, P: Castellani Campanella; Coviello, D.; Pietro, M. L. Di; Favaretti, C.; Gurrieri, F.; Ripabelli, G.; Teleman, A. A.; Assael, B. M.; Boccia, S.
In: Giornale Italiano di Health Technology Assessment & Delivery, Vol. 11, No. Suppl. 1, 2018, p. 1-48.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Health Technology Assessment Of The Genetic Tests For Cystic Fibrosis Carrier Screening in Italy
AU - Vukovic, V.
AU - Calabrò, G. E.
AU - Agodi, A.
AU - Baffico, M.
AU - Barchitta, M.
AU - C, P: Castellani Campanella
AU - Coviello, D.
AU - Pietro, M. L. Di
AU - Favaretti, C.
AU - Gurrieri, F.
AU - Ripabelli, G.
AU - Teleman, A. A.
AU - Assael, B. M.
AU - Boccia, S.
PY - 2018
Y1 - 2018
N2 - Introduction: Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene. In Italy, the reported prevalence is approximately 0.70 per 10,000 inhabitants. Our aim was to summarize the available evidence, using the HTA approach, on the genetic tests for cystic fibrosis carrier screening. Methods: systematic literature search was used to find the best available international and national evidence on genetic tests for CF carrier screening. We addressed health problem of disease, description and technical characteristics of tests – its analytic and clinical validity, and clinical utility. Economic evaluation of different scenarios was synthesized from literature. Ethical, organizational, and social aspects of CF and genetic screening were also considered. Results: Several screening strategies have been evaluated in the literature and screening options can be characterized by different timing, model and place of screening. The reported cost of a screening test ranged from €25 to €212. Ethical analysis emphasized that the use of these tests is an advantage in terms of the acquisition of knowledge and of responsible management of choices, but at the same time raises many ethical questions. Social considerations reported an overall positive attitude among patients and their families towards CF carrier screening. Conclusions: Advances in the molecular genetics technology have made CF carrier testing reliable and affordable. The multidisciplinary approach of this HTA provided an evidence-based evaluation of the genetic tests and offers a firm scientific background for the decision-makers to consider the implementation of a screening for cystic fibrosis carriers into the Italian health care system.
AB - Introduction: Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene. In Italy, the reported prevalence is approximately 0.70 per 10,000 inhabitants. Our aim was to summarize the available evidence, using the HTA approach, on the genetic tests for cystic fibrosis carrier screening. Methods: systematic literature search was used to find the best available international and national evidence on genetic tests for CF carrier screening. We addressed health problem of disease, description and technical characteristics of tests – its analytic and clinical validity, and clinical utility. Economic evaluation of different scenarios was synthesized from literature. Ethical, organizational, and social aspects of CF and genetic screening were also considered. Results: Several screening strategies have been evaluated in the literature and screening options can be characterized by different timing, model and place of screening. The reported cost of a screening test ranged from €25 to €212. Ethical analysis emphasized that the use of these tests is an advantage in terms of the acquisition of knowledge and of responsible management of choices, but at the same time raises many ethical questions. Social considerations reported an overall positive attitude among patients and their families towards CF carrier screening. Conclusions: Advances in the molecular genetics technology have made CF carrier testing reliable and affordable. The multidisciplinary approach of this HTA provided an evidence-based evaluation of the genetic tests and offers a firm scientific background for the decision-makers to consider the implementation of a screening for cystic fibrosis carriers into the Italian health care system.
M3 - Article
VL - 11
SP - 1
EP - 48
JO - Giornale Italiano di Health Technology Assessment & Delivery
JF - Giornale Italiano di Health Technology Assessment & Delivery
IS - Suppl. 1
ER -