Standardizing variation: scaling up clinical genomics in Australia

Stephanie Best*, Janet C. Long, Jeffrey Braithwaite, Natalie Taylor

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


Purpose: Clinical genomics demands close interaction of physicians, laboratory scientists, and genetic professionals. Taking genomics to scale requires an understanding of the underlying processes from the perspective of nongenetic physicians who are new to the field. We identified components of the processes amenable to adaptation when scaling up clinical genomics. Methods: Semistructured interviews informed by the Theoretical Domains Framework with nongenetic physicians, who were using clinical genomics in practice, were guided by an annotated process map with 7 steps following the patient's journey. Findings from the individual maps were synthesized into an overview process map and a series of individual maps by common location and specialty. Interviews were analyzed using the Theoretical Domains Framework. Results: In total, 16 nongenetic physicians (eg, nephrologists, immunologists) participated, generating 1 overview and 10 individual process maps. Sixteen common steps were identified across clinical specialties and locations, with variations over 9 steps. We report the potential for standardization across these 9 steps. Conclusion: When scaling up complex interventions, it is essential to identify steps where variation can be accommodated. With these results we show how process mapping can be used to identify steps where variation is acceptable during scale up to accommodate adaptation to local context, allowing for the inevitable evolution of factors influencing ongoing implementation and sustainability.

Original languageEnglish
Article number100109
Number of pages11
JournalGenetics in Medicine
Issue number2
Early online date31 Jan 2022
Publication statusPublished - Feb 2023


  • Clinical genomics
  • Fidelity
  • Implementation science
  • Process map
  • Scaling up


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