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Updated: Jul 25, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Investigating genomic medicine practice and perceptions amongst Australian non-genetics physicians to inform
Amy Nisselle1,2,3, Emily King4,5,6, Bronwyn Terrill4,7,8
1Australian Genomics Health Alliance, Melbourne, VIC, Australia. amy.nisselle@mcri.edu.au.
Abstract:
Genomic medicine is being implemented on a global scale, requiring a genomic-competent health workforce. To inform education as part of implementation strategies to optimize adoption of genomics by non-genetics physicians, we investigated current practices, perceptions and preferences relating to genomic testing and education. Australian non-genetics physicians completed an online survey; we conducted univariate and multivariate analyses of determinants of confidence and engagement with genomic medicine. Confident or engaged respondents were more likely to be pediatricians, have completed continuing genomics education (CGE) and/or have genomics research experience. Confident or engaged respondents were also more likely to prefer to request genomic testing with support from genetics services than other models. Respondents who had completed CGE and were engaged reported higher confidence than those who were not engaged. We propose a progression of genomic competence aligned with service delivery models, where education is one enabler of mastery or independence to facilitate genomic tests (from referral to requesting with or without clinical genetics support). Workplace learning could provide additional impetus for adoption.
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