"I'm Healthy, It's Not Going To Be Me": Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in Australia

Advancing genetic testing technologies mean that population‐based carrier screening for multiple inherited conditions is now available. As the number of genetic conditions being screened increases, there is a need for research into how people experience these screening programs. This research aimed...

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Bibliographic Details
Published in:	American journal of medical genetics. Part A Vol. 170A; no. 8; pp. 2052 - 2059
Main Authors:	Beard, Catherine A., Amor, David J., Di Pietro, Louisa, Archibald, Alison D.
Format:	Journal Article
Language:	English
Published:	United States Blackwell Publishing Ltd 01-08-2016 Wiley Subscription Services, Inc
Subjects:	Adult Australia - epidemiology Communication community genetics cystic fibrosis Family Female fragile X syndrome Genetic Carrier Screening - methods Genetic Counseling Genetic Diseases, Inborn - diagnosis Genetic Diseases, Inborn - epidemiology Genetic Diseases, Inborn - genetics Genetic Testing - methods Genetic Testing - statistics & numerical data Genetics, Population Heterozygote Humans population carrier screening Population Surveillance Prenatal Diagnosis Qualitative Research spinal muscular atrophy Surveys and Questionnaires spinal muscular atrophy qualitative research cystic fibrosis population carrier screening fragile X syndrome community genetics
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Summary:	Advancing genetic testing technologies mean that population‐based carrier screening for multiple inherited conditions is now available. As the number of genetic conditions being screened increases, there is a need for research into how people experience these screening programs. This research aimed to explore how women experience simultaneous carrier screening for three inherited conditions: cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS). A qualitative approach was adopted using in‐depth semi‐structured interviews to explore the experiences of ten female participants: five SMA carriers, three CF carriers, and two FXS premutation carriers. Eight participants were pregnant when offered screening by their general practitioner or obstetrician and the decision to have screening was described as straightforward. Participants reported experiencing emotional responses such as anxiety and stress while waiting for either their partner's carrier screen result (CF or SMA carriers) or the pregnancy's CVS result (FXS carrier) and sought additional information about the relevant condition during this time. Most participants were in favor of population carrier screening for these conditions, preferably prior to conception. Genetic counselors played an essential role in supporting couples after they received a carrier result given the variable consent processes undertaken when screening was offered. Further research should focus on the development of reliable online information tailored to people receiving carrier results and strategies for raising awareness of the availability of population carrier screening within the community. © 2016 Wiley Periodicals, Inc.
Bibliography:	ArticleID:AJMGA37697 ark:/67375/WNG-VHCNMPH8-5 istex:B64DF356ED2BA4C617CD42D72FF19D746D1450CA ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.37697