Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing

Belinda J. McClaren B Biomed Sc, PhD,

MaryAnne Aitken Grad Dip, PhD,

John Massie MBBS, PhD,

David Amor MBBS, PhD,

Obioha C. Ukoumunne PhD

& Sylvia A. Metcalfe BSc, PhD

Affiliations

Corresponding author

Genetics in Medicine

(2013)

doi:10.1038/gim.2012.175

Received: 29 October 2012
Accepted: 03 December 2012
Published online: 24 January 2013

Abstract

Purpose:

Newborn screening for cystic fibrosis is increasingly available, but cascade testing following the diagnosis in a child has received little attention. We previously reported low levels of cascade testing over time, and this study investigated motivators as well as barriers to testing.

Methods:

Parents were interviewed about communicating the genetic information and also asked to recruit their relatives to receive a specifically developed questionnaire.

Results:

Thirty parents were interviewed and addresses of 284 relatives were provided; completed questionnaires were received from 225 (79%). A relative’s relationship to the child, as well as knowledge, is associated with having had carrier testing. Relatives’ reasons for testing included curiosity and wanting information for other relatives and for reproductive planning. Reasons for not testing were perceived irrelevance, lacking awareness, and viewing it as something to do in the future. Parents communicated the genetic information to relatives in various ways, which contributed to whether relatives accessed carrier testing.

Conclusion:

Newborn screening programs should provide support to parents to aid communication of genetic information to relatives. (Ir)relevance of testing is often linked to life stage; ongoing support and communication may allow relatives to learn of their risk and then seek testing, if they wish, at a time perceived to be most relevant to them.

Genet Med advance online publication 24 January 2013

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