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Australians’ views and experience of personal genomic testing: survey findings from the Genioz study


Personal genomic tests (PGTs) for multiple purposes are marketed to ostensibly healthy people in Australia. These tests are generally marketed and purchased online commercially or can be ordered through a health professional. There has been minimal engagement with Australians about their interest in and experience with ordering a PGT. As part of a multistage, interdisciplinary project, an online survey (Stage 2 of the Genioz study) was available from May 2016 to May 2017. In total, 3253 respondents attempted the survey, with 2395 completed Australian responses from people with and without experience of having a PGT: 72% were female; 59% of the whole sample were undertaking/or had a university education; and, overall, age ranged from 18—over 80. A total of 571 respondents reported having had a genetic test, 373 of these classifiable as a PGT. A bivariate analysis suggests people who have undergone PGT in our sample were: women aged 25 and over; or in a high socioeconomic group, or have a personal or family diagnosis of a genetic condition (P ≤ 0.03). After a multivariate analysis, socioeconomic status and a genetic condition in the family were not of significance. The most common types of PGT reported were for carrier status and ancestry. Findings suggest greater awareness of, and an increasing demand for non-health related PGT in Australia. To support both consumers and health care professionals with understanding PGT results, there is a need for appropriate support and resources.

Type Journal
ISBN 1476-5438
Authors Savard, Jacqueline; Hickerton, Chriselle; Tytherleigh, Rigan; Terrill, Bronwyn; Turbitt, Erin; Newson, Ainsley J.; Wilson, Brenda; Gray, Kathleen; Gaff, Clara; Middleton, Anna; Stackpoole, Elaine; Metcalfe, Sylvia A.
Publisher Name European Journal of Medical Genetics
Published Date 2019-05-01
Published Volume 27
Published Issue 5
Published Pages 711-720
Status Published in-print
DOI 10.1038/s41431-018-0325-x
URL link to publisher's version
OpenAccess link to author's accepted manuscript version