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Exploring approaches to facilitate family communication of genetic risk information after cystic fibrosis population carrier screening

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Abstract

Population carrier screening for cystic fibrosis (CF) enables individuals with no known family history of the condition to ascertain their risk of having a child with CF. When an individual is identified as a carrier of CF, a life-shortening condition, they are encouraged to inform their relatives who are at increased risk of being a carrier. Research suggests that the uptake of CF carrier testing amongst relatives of carriers or people with CF is low. This study aimed to explore approaches to facilitate the process of family communication of genetic information after an individual is identified as a carrier of CF through population screening. Five key informants were interviewed to inform the development of a telephone survey which was administered to 21 individuals identified as carriers of CF through population carrier screening at Victorian Clinical Genetics Services. This study suggests that providing carriers with additional information and follow-up support would be appreciated by carriers and could result in more accurate information being disseminated more widely within families, which could lead to more at-risk relatives accessing testing. Suggested strategies to enhance current practice include mailing a fact sheet to carriers and a follow-up telephone call provided by a genetic counsellor to carriers to offer further support in communicating this information to their relatives.

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Authors and Affiliations

  1. Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia

    Anita Gorrie, Alison D. Archibald, Lisette Curnow & Belinda McClaren

  2. Murdoch Children’s Research Institute, The Royal Children’s Hospital, Melbourne, VIC, Australia

    Anita Gorrie, Alison D. Archibald, Liane Ioannou, Lisette Curnow & Belinda McClaren

  3. Victorian Clinical Genetics Services, The Royal Children’s Hospital, Melbourne, VIC, Australia

    Alison D. Archibald & Lisette Curnow

  4. Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children’s Hospital, Flemington Road, Parkville, Melbourne, VIC, 3052, Australia

    Belinda McClaren

Authors
  1. Anita Gorrie
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  2. Alison D. Archibald
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  3. Liane Ioannou
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  4. Lisette Curnow
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  5. Belinda McClaren
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Corresponding author

Correspondence to Belinda McClaren.

Ethics declarations

This study was approved by the Royal Children’s Hospital (RCH) Human Research Ethics Committee (HREC 33267 A) and registered with the University of Melbourne Health Sciences Human Ethics Sub-Committee.

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The authors declare that they have no conflict of interest.

Human and animal rights and informed consent

This article does not contain any studies with human or animal subjects performed by the any of the authors.

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Gorrie, A., Archibald, A.D., Ioannou, L. et al. Exploring approaches to facilitate family communication of genetic risk information after cystic fibrosis population carrier screening. J Community Genet 9, 71–80 (2018). https://doi.org/10.1007/s12687-017-0337-1

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  • DOI: https://doi.org/10.1007/s12687-017-0337-1

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