Skip to main content Accessibility help
×
Home
Hostname: page-component-544b6db54f-6mft8 Total loading time: 0.134 Render date: 2021-10-18T03:47:38.147Z Has data issue: true Feature Flags: { "shouldUseShareProductTool": true, "shouldUseHypothesis": true, "isUnsiloEnabled": true, "metricsAbstractViews": false, "figures": true, "newCiteModal": false, "newCitedByModal": true, "newEcommerce": true, "newUsageEvents": true }

VP103 Health Technology Assessment Of Genetic Tests For Cystic Fibrosis Carrier Screening In Italy

Published online by Cambridge University Press:  12 January 2018

Abstract

INTRODUCTION:

Cystic Fibrosis (CF) is a genetic disorder caused by mutations in CFTR gene. In Italy, reported prevalence is approximately .70 per 10,000 inhabitants (1). The practice and recommendations for Cystic Fibrosis carrier screening are very heterogeneous in Europe. A proposal of a carrier genetic test in the general population raises many questions. Health Technology Assessment (HTA) could offer a sound methodological basis for this evaluation. The aim of this work was to summarize the available evidence, using the HTA approach, on the genetic tests for Cystic Fibrosis carrier screening.

METHODS:

A systematic literature search was used to find the best available international and national evidence on genetics test for CF carrier screening. In this report, we specifically addressed the 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 the 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 (2). The reported cost of a screening test ranged from EUR25 to EUR212 (3). Estimated life time cost of care for CF patients ranged from EUR291,048 to EUR1,105,452. 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 among patients and their families an overall positive attitude toward population CF carrier screening.

CONCLUSIONS:

The 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 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.

Type
Vignette Presentations
Copyright
Copyright © Cambridge University Press 2018 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1. Assael, BM, Castellani, C, Ocampo, MB, et al. Epidemiology and survival analysis of cystic fibrosis in an area of intense neonatal screening over 30 years. Am J Epidemiol. 2002;156 (5):397401.CrossRefGoogle Scholar
2. Castellani, C, Picci, L, Tridello, G, et al. Cystic fibrosis carrier screening effects on birth prevalence and newborn screening. Genet Med. 2016;18 (2):145–51.CrossRefGoogle ScholarPubMed
3. Radhakrishnan, M, van Gool, K, Hall, J, et al. Economic evaluation of cystic fibrosis screening: A review of the literature. Health Policy (New York). 2008;85 (2):133–47.CrossRefGoogle ScholarPubMed

Send article to Kindle

To send this article to your Kindle, first ensure no-reply@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about sending to your Kindle. Find out more about sending to your Kindle.

Note you can select to send to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be sent to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

VP103 Health Technology Assessment Of Genetic Tests For Cystic Fibrosis Carrier Screening In Italy
Available formats
×

Send article to Dropbox

To send this article to your Dropbox account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Dropbox.

VP103 Health Technology Assessment Of Genetic Tests For Cystic Fibrosis Carrier Screening In Italy
Available formats
×

Send article to Google Drive

To send this article to your Google Drive account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Google Drive.

VP103 Health Technology Assessment Of Genetic Tests For Cystic Fibrosis Carrier Screening In Italy
Available formats
×
×

Reply to: Submit a response

Please enter your response.

Your details

Please enter a valid email address.

Conflicting interests

Do you have any conflicting interests? *