Benchmarks for cystic fibrosis carrier screening: a European consensus document
| Autor: | Garry R. Cutting, Martin Schwarz, Elisabeth Dequeker, John Massie, Jean Jacques Cassiman, Pier Franco Pignatti, Bruno Dallapiccola, Manfred Stuhrman, Harry Cuppens, Carlo Castellani, Milan Macek, Stephan Kruip, Maria Soller, Edward W. Highsmith, Wayne W. Grody, Michael A. Morris, Helenal Kääriäinen, Ulrike Pypops, Alistair J.A. Duff, David E. Barton, Emmanuelle Girodon, Leo P. ten Kate |
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| Přispěvatelé: | Human genetics, EMGO - Quality of care |
| Rok vydání: | 2010 |
| Předmět: |
Male
Pulmonary and Respiratory Medicine medicine.medical_specialty Cystic Fibrosis Genetic counseling Genetic Counseling Carrier testing Polymorphism Single Nucleotide 03 medical and health sciences 0302 clinical medicine Health care Humans Mass Screening Medicine Pediatrics Perinatology and Child Health 030212 general & internal medicine CFTR Health Education Gynecology 0303 health sciences Medical education Health economics business.industry Genetic Carrier Screening 030305 genetics & heredity Genetic analysis Carrier screening Benchmarking Laboratory quality control Cystic Fibrosis Carrier Screening 3. Good health Europe Pediatrics Perinatology and Child Health Female Health education business |
| Zdroj: | Journal of Cystic Fibrosis, 9(3), 165-178. Elsevier Castellani, C, Macek, M, Cassiman, J J, Duff, A, Massie, J, ten Kate, L P, Barton, D, Cutting, G, Dallapiccola, B, Dequeker, E, Girodon, E, Grody, W, Highsmith, E W, Kaariainen, H, Kruip, S, Morris, M, Pignatti, P F, Pypops, U, Schwarz, M, Soller, M, Stuhrman, M & Cuppens, H 2010, ' Benchmarks for cystic fibrosis carrier screening: a European consensus document ', Journal of Cystic Fibrosis, vol. 9, no. 3, pp. 165-178 . https://doi.org/10.1016/j.jcf.2010.02.005 Journal of Cystic Fibrosis Journal of Cystic Fibrosis; Vol 9 |
| ISSN: | 1569-1993 |
| Popis: | This paper presents an overview of the conclusions from an international conference convened to address current issues related to the provision of Cystic Fibrosis carrier screening within Europe. Consensus was not aimed at stating whether such a programme should be implemented. Instead the focus was to provide a framework for countries and agencies who are considering or planning its establishment. The general principles and target population of Cystic Fibrosis carrier screening, advantages and disadvantages, health economics, monitoring and future evaluative and research directions were covered. A range of screening strategies have been assessed and compared: pre-conceptional and prenatal screening; individual and couple screening; sequential and simultaneous sampling or testing. Furthermore, technical issues were examined with respect to the choice of the panel of mutations, its detection rate, sensitivity, management of intermediate 'at-risk' couples, screening approach to different populations and ethnic minorities, and assurance of laboratory quality control. The consensus statement also aims to establish the benchmarks for communicating with health care providers, the general public and potential and actual participants before and after the genetic test. |
| Databáze: | OpenAIRE |
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