Mutation analysis of Western Australian families affected by cystic fibrosis

Goldblatt, Jack; Creegan, Rhona; Edkins, Ted; Li, Landau; Ryan, Gerard; Ir, Walpole

doi:10.5694/j.1326-5377.1995.tb138402.x

Cited by 9 publications

(4 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In addition, analytic validity and other performance characteristics of ARMS for the specific application of CF carrier testing can be estimated by using data from eight published reports. [23][24][25][26][27][28][29][30] Most of these studies used primers obtained from the same commercial source.…”

Section: Cf 3233 Amplification Refractory Mutation System (Arms) Cmentioning

confidence: 99%

Standards and Guidelines for CFTR Mutation Testing

Richards

Bradley

Amos

et al. 2002

Genetics in Medicine

116

View full text Add to dashboard Cite

One mission of the ACMG Laboratory Quality Assurance (QA) Committee is to develop standards and guidelines for clinical genetics laboratories, including cytogenetics, biochemical, and molecular genetics specialties. This document was developed under the auspices of the Molecular Subcommittee of the Laboratory QA Committee by the Cystic Fibrosis (CF) Working Group. It was placed on the "fast track" to address the preanalytical, analytical, and postanalytical quality assurance practices of laboratories currently providing testing for CF. Due to the anticipated impact of the ACMG recommendation statement endorsing carrier testing of reproductive couples, it was viewed that CF testing would increase in volume and that the number of laboratories offering CF testing would also likely increase. Therefore, this document was drafted with the premise of providing useful information gained by experienced laboratory directors who have provided such testing for many years. In many instances, "tips" are given. However, these guidelines are not to be interpreted as restrictive or the only approach but to provide a helpful guide. Certainly, appropriately trained and credentialed laboratory directors have flexibility to utilize various testing platforms and design testing strategies with considerable latitude. We felt that it was essential to include technique-specific guidelines of several current technologies commonly used in laboratories providing CF testing, since three of the four technologies discussed are available commercially and are widely utilized. We take the view that these technologies will change, and thus this document will change with future review.

show abstract

Section: Cf 3233 Amplification Refractory Mutation System (Arms) Cmentioning

confidence: 99%

Standards and Guidelines for CFTR Mutation Testing

Richards

Bradley

Amos

et al. 2002

Genetics in Medicine

116

View full text Add to dashboard Cite

show abstract

“…This may even be a useful psychological defence mechanism [Marteau et al, 1992]. In WA, the Delta F508 CF mutation comprises 72.4% of CF alleles [Goldblatt et al, 1995], and so, as explained in the information leaflet, a negative screening result significantly reduces but does not eliminate carrier risk. A sizeable proportion of test negative individuals (31.1% in the present study, 17% and 25% in others [Payne et al, 1997; Bekker et al, 1994]) believed they were definitely not carriers.…”

Section: Discussionmentioning

confidence: 99%

“…DNA was obtained from buccal cells collected in the mouthwash and was screened for the Delta F508 CF transmembrane conductance regulator mutation which, in the WA population, comprises 72.4% of CF alleles [Goldblatt et al, 1995]. Using ARMS Multiplex tests for the 12 most common mutations for CF in WA, the sensitivity of screening is increased to only 81%, and frequently necessitates obtaining specimens additional to a mouthwash sample.…”

Section: Methodsmentioning

confidence: 99%

Population screening for cystic fibrosis in Western Australia: Community response

et al. 2000

Self Cite

View full text Add to dashboard Cite

We measured acceptance of carrier testing for cystic fibrosis in the community when offered in a primary care setting, determined variables influencing acceptance, and assessed knowledge of cystic fibrosis 3-6 months later. A total of 5,102 individuals age 18-50 years attending general practices or a family planning clinic in Western Australia completed questionnaires about knowledge of cystic fibrosis and the State Anxiety Inventory. Testing for the delta F508 gene was offered. After 3-6 months, carriers, a sample of consenting participants who were not tested, and a sample of test-negative participants were sent a further questionnaire; 43.5% of participants chose to be tested for cystic fibrosis carrier status. Women, younger people, people with higher education, people without children, and people planning to have children were more likely to be tested. After 3-6 months, carriers gave correct responses to questions about cystic fibrosis more frequently than those who tested negative or were not tested; 82.2% of carriers knew that they were definitely a carrier and 31.1% of test-negative individuals believed they were definitely not carriers. Thus, population carrier screening for cystic fibrosis offered in a community setting in Western Australia was acceptable to almost half of those offered testing, particularly younger people and those planning to have children, for whom knowledge of carrier status could be useful in making reproductive decisions. There was evidence that tested individuals recalled information in a way that minimised their risk of being a carrier.

show abstract

“…Individuals not wanting the test placed their questionnaire in a box in the waiting room. DNA obtained from the buccal cells collected in the mouth wash were tested for the Delta F508 CFTR mutation, which comprises 72.4% of the CF alleles found in the Western Australian population [Goldblatt et al, 1995]. The results of the testing were sent by letter, with an additional copy of the leaflet, to all tested individuals.…”

Section: Methodsmentioning

confidence: 99%

Population screening for cystic fibrosis: Knowledge and emotional consequences 18 months later

Gordon

Walpole

Zubrick

et al. 2003

American J of Med Genetics Pt A

View full text Add to dashboard Cite

We assessed cystic fibrosis (CF) knowledge and emotional consequences of CF population testing 18 months after screening was offered. Questionnaires were sent to 593 individuals and 353 responded (59.5%). All respondents had sound knowledge of CF disease, although carriers were more likely to correctly state the pattern of CF inheritance and CF carrier rate in Australia. Eleven of 47 carriers falsely believed they were only very likely to be carriers, while nearly a third of test-negative individuals falsely believed they were definitely not carriers. Imprecise recall of the meaning of results may be due to memory loss over time, simplification of result meaning and minimization of risk. The Health Orientation Scale (HOS) was used to assess emotional consequences of CF carrier testing 18 months after testing. Both carriers and test-negative individuals thought most carriers would experience more negative feelings than most non-carriers. Carriers experienced less positive feelings about their test result compared to non-carriers. Interestingly, the carriers' own feelings about their result were more positive compared to how they thought most carriers would feel. These results suggest that carriers experience minimal adverse psychological effects, although a negative social stigma may be attached to carrying the CF gene mutation.

show abstract

Mutation analysis of Western Australian families affected by cystic fibrosis

Cited by 9 publications

References 22 publications

Standards and Guidelines for CFTR Mutation Testing

Standards and Guidelines for CFTR Mutation Testing

Population screening for cystic fibrosis in Western Australia: Community response

Population screening for cystic fibrosis: Knowledge and emotional consequences 18 months later

Contact Info

Product

Resources

About