Evaluating the resource implications of different service delivery models for offering additional genomic findings



To evaluate the resource implications of different delivery models for the provision of additional findings (AF) in genomics from a health-care purchaser perspective.


Data from the Additional Findings study were used to develop and validate a discrete event simulation model that represented the pathway of delivering AF. Resource implications were estimated by microcosting the consultations, sample verifications, bioinformatics, curation, and multidisciplinary case review meetings. A proof-of-concept model was used to generate costing, and then the simulation model was varied to assess the impact of an automated analysis pipeline, use of telehealth consultation, full automation with electronic decision support, and prioritizing case review for cases with pathogenic variants.


For the proof-of-concept delivery model, the average total cost to report AF was US$430 per patient irrespective of result pathogenicity (95% confidence interval [CI] US$375–US$489). However, the cost of per AF diagnosis was US$4349 (95% CI US$3794–US$4953). Alternative approaches to genetic counseling (telehealth, decision support materials) and to multidisciplinary case review (pathogenic AF cases only) lowered the total per patient cost of AF analysis and reporting by 41–51%.


Resources required to provide AF can be reduced substantially by implementing alternative approaches to counseling and multidisciplinary case review.

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Fig. 1: Additional findings (AF) delivery model structure.
Fig. 2

Data availability

All model inputs used in this study are described or included in this article and the electronic supplementary information.


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The authors thank all collaborators on the Melbourne Genomics Health Alliance Additional Findings Study. This study was funded by the State Government of Victoria (Department of Health and Human Services) and the ten member organizations of the Melbourne Genomics Health Alliance.

Author information




Conceptualization: M.V., K.D., M.M., E.L., B.C., C.G., M.I.J.; Data curation: M.M., E.L., B.C.,C.G.; Formal analysis: M.V., K.D.; Funding acquisition: C.G., M.I.J.; Methodology: M.V., K.D., M.I.J.; Software: M.V., K.D.; Supervision: K.D., M.M., C.G., M.I.J.; Visualization: M.V.;Writing – original draft: M.V.; Writing – reviewing & editing: M.V., K.D., M.M., E.L., B.C., C.G., M.I.J.

Corresponding author

Correspondence to Maarten J. IJzerman PhD.

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The authors declare no competing interests.

Ethics Declaration

This study was part of the Melbourne Genomics Health Alliance program and received Human Research Ethics Committee approval (13/MH/326). All participants from the Additional Findings Study provided written informed consent prior to the current study. Those that proceeded with reanalysis of the data for AF also provided clinical consent.

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Vu, M., Degeling, K., Martyn, M. et al. Evaluating the resource implications of different service delivery models for offering additional genomic findings. Genet Med (2020). https://doi.org/10.1038/s41436-020-01030-8

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