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

Martin Vu, Koen Degeling, Melissa Martyn, Elly Lynch, Belinda Chong, Clara Gaff, Maarten J. IJzerman*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

6 Citations (Scopus)


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

Methods: 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.

Results: 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%.

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

Original languageEnglish
Number of pages8
JournalGenetics in Medicine
Early online date20 Nov 2020
Publication statusPublished - Apr 2021
Externally publishedYes


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