Testing for hereditary mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene

Mittal, R, Kessels, S, Newton, S, Milverton, J, Parsons, J, Morona, J, Schubert, C, Merlin, T
Record ID 32018000660
Original Title: Application 1216.1
Authors' recommendations: Comparative Safety - All studies were non-comparative and could not address the question of safety and effectiveness of cascade testing compared to no testing. A small body of evidence investigating the psychological impacts of testing and being a carrier found that a positive test result on cascade carrier testing is a shock to most people. However, with adequate time to process the information prior to reproductive decisions, anxiety levels soon approximate anxiety levels among non-carriers. As testing and knowing carrier status can have psychological effects, it is important to ensure appropriate counselling and supports are in place around a testing program. Comparative Effectiveness - No studies were identified assessing comparative diagnostic performance in the appropriate population. For therapeutic effectiveness (health benefit from change in management), the results showed that a live unaffected birth was the outcome in 36.6% of pre-implantation genetic diagnosis (PGD) cycles, and the average number of cycles per couple was between 1 and 2.15. Although no comparative studies were identified, it cannot be assumed that the comparator (no PGD) would be associated with cystic fibrosis (CF) births, as couples have other alternatives such as prenatal diagnosis (PND), not having children or adopting. Overall, carrier testing is likely to have an impact on future reproductive choices, and it is likely to result in fewer CF-affected children being born, However, given that the acceptability between reproductive options varies (i.e. PGD, termination) it cannot be assumed that every couple will make the same decision when armed with the same information.
Project Status: Completed
Year Published: 2017
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Australia
MeSH Terms
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Cystic Fibrosis
Organisation Name: Adelaide Health Technology Assessment
Contact Address: School of Public Health, Mail Drop 545, University of Adelaide, Adelaide SA 5005, AUSTRALIA, Tel: +61 8 8313 4617
Contact Name: ahta@adelaide.edu.au
Contact Email: ahta@adelaide.edu.au
Copyright: Adelaide Health Technology Assessment (AHTA)
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