The importance of confirming CFTR mutation genotypes for affected individuals and the significance of this information for extended family members, clinical care and future reproductive decision making

B. Burgess; L. Christie; S. O'Donnell; B. Whitehead; M. Edwards

The importance of confirming CFTR mutation genotypes for affected individuals and the significance of this information for extended family members, clinical care and future reproductive decision making

B. Burgess, L. Christie, S. O'Donnell, B. Whitehead, M. Edwards

School of Medicine

Research output: Chapter in Book / Conference Paper › Conference Paper › peer-review

Abstract

We report on 8 years experience working in a multidisciplinary setting with the Paediatric Respiratory Team at John Hunter Children's Hospital to confirm the Cystic Fibrosis Transmembrane Conductance (CFTR) mutations in all affected paediatric patients. This information is essential for cascade testing in the family, reproductive decision making for the proband and relatives and has relevance for clinical care and therapeutic trials. The availability of sequencing of the CFTR gene in the clinical setting has impacted on the genetic services available and the role of the genetic counsellor. The genetic testing service at Hunter Genetics is a specialty area coordinated by a genetic counsellor in an autonomous role.

Original language	English
Title of host publication	Abstracts for the 36th Human Genetics Society of Australasia Annual Scientiﬁc Meeting, Canberra, Australia, July 22–25, 2012
Publisher	Cambridge University Press
Pages	590-
Number of pages	1
Publication status	Published - 2012
Event	Human Genetics Society of Australasia. Scientific Meeting - Duration: 1 Jan 2012 → …

Conference

Conference	Human Genetics Society of Australasia. Scientific Meeting
Period	1/01/12 → …

Cite this

Burgess, B., Christie, L., O'Donnell, S., Whitehead, B., & Edwards, M. (2012). The importance of confirming CFTR mutation genotypes for affected individuals and the significance of this information for extended family members, clinical care and future reproductive decision making. In Abstracts for the 36th Human Genetics Society of Australasia Annual Scientiﬁc Meeting, Canberra, Australia, July 22–25, 2012 (pp. 590-). Cambridge University Press.

Burgess, B. ; Christie, L. ; O'Donnell, S. et al. / The importance of confirming CFTR mutation genotypes for affected individuals and the significance of this information for extended family members, clinical care and future reproductive decision making. Abstracts for the 36th Human Genetics Society of Australasia Annual Scientiﬁc Meeting, Canberra, Australia, July 22–25, 2012. Cambridge University Press, 2012. pp. 590-

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title = "The importance of confirming CFTR mutation genotypes for affected individuals and the significance of this information for extended family members, clinical care and future reproductive decision making",

abstract = "We report on 8 years experience working in a multidisciplinary setting with the Paediatric Respiratory Team at John Hunter Children's Hospital to confirm the Cystic Fibrosis Transmembrane Conductance (CFTR) mutations in all affected paediatric patients. This information is essential for cascade testing in the family, reproductive decision making for the proband and relatives and has relevance for clinical care and therapeutic trials. The availability of sequencing of the CFTR gene in the clinical setting has impacted on the genetic services available and the role of the genetic counsellor. The genetic testing service at Hunter Genetics is a specialty area coordinated by a genetic counsellor in an autonomous role.",

author = "B. Burgess and L. Christie and S. O'Donnell and B. Whitehead and M. Edwards",

year = "2012",

language = "English",

pages = "590--",

booktitle = "Abstracts for the 36th Human Genetics Society of Australasia Annual Scientiﬁc Meeting, Canberra, Australia, July 22–25, 2012",

publisher = "Cambridge University Press",

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Burgess, B, Christie, L, O'Donnell, S, Whitehead, B & Edwards, M 2012, The importance of confirming CFTR mutation genotypes for affected individuals and the significance of this information for extended family members, clinical care and future reproductive decision making. in Abstracts for the 36th Human Genetics Society of Australasia Annual Scientiﬁc Meeting, Canberra, Australia, July 22–25, 2012. Cambridge University Press, pp. 590-, Human Genetics Society of Australasia. Scientific Meeting, 1/01/12.

The importance of confirming CFTR mutation genotypes for affected individuals and the significance of this information for extended family members, clinical care and future reproductive decision making. / Burgess, B.; Christie, L.; O'Donnell, S. et al.
Abstracts for the 36th Human Genetics Society of Australasia Annual Scientiﬁc Meeting, Canberra, Australia, July 22–25, 2012. Cambridge University Press, 2012. p. 590-.

Research output: Chapter in Book / Conference Paper › Conference Paper › peer-review

TY - GEN

T1 - The importance of confirming CFTR mutation genotypes for affected individuals and the significance of this information for extended family members, clinical care and future reproductive decision making

AU - Burgess, B.

AU - Christie, L.

AU - O'Donnell, S.

AU - Whitehead, B.

AU - Edwards, M.

PY - 2012

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N2 - We report on 8 years experience working in a multidisciplinary setting with the Paediatric Respiratory Team at John Hunter Children's Hospital to confirm the Cystic Fibrosis Transmembrane Conductance (CFTR) mutations in all affected paediatric patients. This information is essential for cascade testing in the family, reproductive decision making for the proband and relatives and has relevance for clinical care and therapeutic trials. The availability of sequencing of the CFTR gene in the clinical setting has impacted on the genetic services available and the role of the genetic counsellor. The genetic testing service at Hunter Genetics is a specialty area coordinated by a genetic counsellor in an autonomous role.

AB - We report on 8 years experience working in a multidisciplinary setting with the Paediatric Respiratory Team at John Hunter Children's Hospital to confirm the Cystic Fibrosis Transmembrane Conductance (CFTR) mutations in all affected paediatric patients. This information is essential for cascade testing in the family, reproductive decision making for the proband and relatives and has relevance for clinical care and therapeutic trials. The availability of sequencing of the CFTR gene in the clinical setting has impacted on the genetic services available and the role of the genetic counsellor. The genetic testing service at Hunter Genetics is a specialty area coordinated by a genetic counsellor in an autonomous role.

UR - http://handle.uws.edu.au:8081/1959.7/546928

M3 - Conference Paper

SP - 590-

BT - Abstracts for the 36th Human Genetics Society of Australasia Annual Scientiﬁc Meeting, Canberra, Australia, July 22–25, 2012

PB - Cambridge University Press

T2 - Human Genetics Society of Australasia. Scientific Meeting

Y2 - 1 January 2012

ER -

Burgess B, Christie L, O'Donnell S, Whitehead B, Edwards M. The importance of confirming CFTR mutation genotypes for affected individuals and the significance of this information for extended family members, clinical care and future reproductive decision making. In Abstracts for the 36th Human Genetics Society of Australasia Annual Scientiﬁc Meeting, Canberra, Australia, July 22–25, 2012. Cambridge University Press. 2012. p. 590-

The importance of confirming CFTR mutation genotypes for affected individuals and the significance of this information for extended family members, clinical care and future reproductive decision making

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