Measuring physician practice, preparedness and preferences for genomic medicine: a national survey

BMJ Open. 2021 Jul 9;11(7):e044408. doi: 10.1136/bmjopen-2020-044408.


Objective: Even as genomic medicine is implemented globally, there remains a lack of rigorous, national assessments of physicians' current genomic practice and continuing genomics education needs. The aim of this study was to address this gap.

Design: A cross-sectional survey, informed by qualitative data and behaviour change theory, to assess the current landscape of Australian physicians' genomic medicine practice, perceptions of proximity and individual preparedness, and preferred models of practice and continuing education. The survey was advertised nationally through 10 medical colleges, 24 societies, 62 hospitals, social media, professional networks and snowballing.

Results: 409 medical specialists across Australia responded, representing 30 specialties (majority paediatricians, 20%), from mainly public hospitals (70%) in metropolitan areas (75%). Half (53%) had contacted their local genetics services and half (54%) had ordered or referred for a gene panel or exome/genome sequencing test in the last year. Two-thirds (67%) think genomics will soon impact their practice, with a significant preference for models that involved genetics services (p<0.0001). Currently, respondents mainly perform tasks associated with pretest family history taking and counselling, but more respondents expect to perform tasks at all stages of testing in the future, including tasks related to the test itself, and reporting results. While one-third (34%) recently completed education in genomics, only a quarter (25%) felt prepared to practise. Specialists would like (more) education, particularly on genomic technologies and clinical utility, and prefer this to be through varied educational strategies.

Conclusions: This survey provides data from a breadth of physician specialties that can inform models of genetic service delivery and genomics education. The findings support education providers designing and delivering education that best meet learner needs to build a competent, genomic-literate workforce. Further analyses are underway to characterise early adopters of genomic medicine to inform strategies to increase engagement.

Keywords: Genetics; Health services administration & management; Medical education & training.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Australia
  • Cross-Sectional Studies
  • Genomics
  • Humans
  • Medicine*
  • Physicians*