Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis
Since the discovery in 1989 that mutations in cystic fibrosis transmembrane conductance regulator (CFTR) underlie cystic fibrosis (CF), the most common life shortening genetic disorder in Caucasians, it has been possible to identify heterozygous mutation carriers at risk of having affected children....
| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Journal Article |
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Australian Academic Press Pty. Ltd
2014
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| Subjects: | |
| Online Access: | http://hdl.handle.net/20.500.11937/14289 |
| _version_ | 1848748583704068096 |
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| author | Delatycki, M. Burke, J. Christie, L. Collins, F. Gabbett, M. George, P. Haan, E. Ioannou, L. Martin, N. McKenzie, F. O'Leary, Peter Scoble-Williams, N. Turner, G. Massie, J. |
| author_facet | Delatycki, M. Burke, J. Christie, L. Collins, F. Gabbett, M. George, P. Haan, E. Ioannou, L. Martin, N. McKenzie, F. O'Leary, Peter Scoble-Williams, N. Turner, G. Massie, J. |
| author_sort | Delatycki, M. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | Since the discovery in 1989 that mutations in cystic fibrosis transmembrane conductance regulator (CFTR) underlie cystic fibrosis (CF), the most common life shortening genetic disorder in Caucasians, it has been possible to identify heterozygous mutation carriers at risk of having affected children. The Human Genetics Society of Australasia has produced a position statement with recommendations in relation to populationbased screening for CF. These include: (1) that screening should be offered to all relatives of people with or carriers of CF (cascade testing) as well as to all couples planning to have children or who are pregnant; (2) the minimum CFTR mutation panel to be tested consists of 17 mutations which are those mutations that are associated with typical CF and occur with a frequency of 0.1% or higher among individuals diagnosed withCF in Australasia; (3) that genetic counselling is offered to all couples where both members are known to have one or two CFTR mutations and that such couples are given the opportunity to meet with a physician with expertise in the management of CF as well as a family/individual affected by the condition. |
| first_indexed | 2025-11-14T07:07:21Z |
| format | Journal Article |
| id | curtin-20.500.11937-14289 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T07:07:21Z |
| publishDate | 2014 |
| publisher | Australian Academic Press Pty. Ltd |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-142892017-09-13T14:05:40Z Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis Delatycki, M. Burke, J. Christie, L. Collins, F. Gabbett, M. George, P. Haan, E. Ioannou, L. Martin, N. McKenzie, F. O'Leary, Peter Scoble-Williams, N. Turner, G. Massie, J. cystic fibrosis carrier testing carrier heterozygote genetic counselling Since the discovery in 1989 that mutations in cystic fibrosis transmembrane conductance regulator (CFTR) underlie cystic fibrosis (CF), the most common life shortening genetic disorder in Caucasians, it has been possible to identify heterozygous mutation carriers at risk of having affected children. The Human Genetics Society of Australasia has produced a position statement with recommendations in relation to populationbased screening for CF. These include: (1) that screening should be offered to all relatives of people with or carriers of CF (cascade testing) as well as to all couples planning to have children or who are pregnant; (2) the minimum CFTR mutation panel to be tested consists of 17 mutations which are those mutations that are associated with typical CF and occur with a frequency of 0.1% or higher among individuals diagnosed withCF in Australasia; (3) that genetic counselling is offered to all couples where both members are known to have one or two CFTR mutations and that such couples are given the opportunity to meet with a physician with expertise in the management of CF as well as a family/individual affected by the condition. 2014 Journal Article http://hdl.handle.net/20.500.11937/14289 10.1017/thg.2014.65 Australian Academic Press Pty. Ltd unknown |
| spellingShingle | cystic fibrosis carrier testing carrier heterozygote genetic counselling Delatycki, M. Burke, J. Christie, L. Collins, F. Gabbett, M. George, P. Haan, E. Ioannou, L. Martin, N. McKenzie, F. O'Leary, Peter Scoble-Williams, N. Turner, G. Massie, J. Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis |
| title | Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis |
| title_full | Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis |
| title_fullStr | Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis |
| title_full_unstemmed | Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis |
| title_short | Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis |
| title_sort | human genetics society of australasia position statement: population-based carrier screening for cystic fibrosis |
| topic | cystic fibrosis carrier testing carrier heterozygote genetic counselling |
| url | http://hdl.handle.net/20.500.11937/14289 |