scholarly journals Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis

2020 ◽  
Author(s):  
Giulia M. Valente ◽  
David J. Amor ◽  
Liane J. Ioannou ◽  
Alison D. Archibald
Keyword(s):  
Cystic Fibrosis ◽  
Medical Practitioner ◽  
Carrier Screening ◽  
Factors Influencing ◽  
Practitioner Participation

Mapping of genetic factors influencing the weight of cystic fibrosis knockout mice

2002 ◽  
Vol 13 (11) ◽  
pp. 614-618 ◽  
Author(s):  
Christina K. Haston ◽  
Mary Corey ◽  
Lap-Chee Tsui
Keyword(s):  
Cystic Fibrosis ◽  
Knockout Mice ◽  
Genetic Factors ◽  
Factors Influencing

FACTORS INFLUENCING HEALTH INSURERS' DECISIONS TO COVER NEW GENETIC TECHNOLOGIES

2000 ◽  
Vol 16 (1) ◽  
pp. 178-189 ◽  
Author(s):  
Michele M. Schoonmaker ◽  
Barbara A. Bernhardt ◽  
Neil A. Holtzman
Keyword(s):  
Gene Therapy ◽  
Critical Role ◽  
Medical Costs ◽  
Outpatient Setting ◽  
Carrier Screening ◽  
Consensus Conference ◽  
Detection Rates ◽  
Factors Influencing ◽  
Genetic Technologies ◽  
Health Insurers

Objective: To examine the relative importance of factors influencing health insurers' coverage of new genetic technologies.Methods: A national survey in which the decision makers for private health insurers were asked whether they would cover cystic fibrosis (CF) carrier screening, testing for genetic susceptibility to breast cancer (BRCA test), and medical costs of a clinical trial of gene therapy for CF under a variety of conditions.Results: Respondents' coverage of the two tests and of medical costs of clinical trials was low at the time of the study (4%–15.5% of insurers.) Their coverage of CF carrier screening and BRCA testing would be increased significantly if the group tested was restricted to those at high risk, if detection rates were higher and costs lower, and if testing was endorsed by a national professional group or consensus conference. Coverage of the medical costs of a trial of CF gene therapy would be significantly more likely if the trial was restricted to children or adults with severe CF, safety and effectiveness was proven, and therapy could be administered in a regional hospital or an outpatient setting rather than in a research hospital.Conclusions: Health insurers play a critical role in the diffusion of new genetic technologies. The validity of genetic tests and the safety and effectiveness of new therapies are primary factors influencing health insurers' coverage. Lower costs and approval of professional groups are other factors associated with increased coverage.

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

2017 ◽  
Vol 33 (S1) ◽  
pp. 197-197
Author(s):  
Vladimir Vukovic ◽  
Antonella Agodi ◽  
Baroukh Assael ◽  
Giovanna Elisa Calabro' ◽  
Paolo Campanella ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Health Technology Assessment ◽  
Technology Assessment ◽  
Genetic Disorder ◽  
Health Technology ◽  
Carrier Screening ◽  
Cost Of Care ◽  
Genetic Tests ◽  
Cystic Fibrosis Carrier ◽  
Cystic Fibrosis Carrier Screening

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.

Psychological and social consequences of community carrier screening programme for cystic fibrosis

The Lancet ◽  
1992 ◽  
Vol 340 (8813) ◽  
pp. 217-220 ◽  
Author(s):  
E.K. Watson ◽  
E.S. Maynall ◽  
J. Lamb ◽  
J. Chapple ◽  
R. Williamson
Keyword(s):  
Cystic Fibrosis ◽  
Screening Programme ◽  
Carrier Screening ◽  
Social Consequences
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