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Review
. 2015 Jun;17(6):431-40.
doi: 10.1038/gim.2014.133. Epub 2014 Oct 23.

An overview of recommendations and translational milestones for genomic tests in cancer

Christine Q Chang  1 , Sharna R Tingle  1 , Kelly K Filipski  1 , Muin J Khoury  2 , Tram Kim Lam  1 , Sheri D Schully  1 , John P A Ioannidis  3
Affiliations
Review

An overview of recommendations and translational milestones for genomic tests in cancer

Christine Q Chang et al. Genet Med. 2015 Jun.

Abstract

Purpose: To understand the translational trajectory of genomic tests in cancer screening, diagnosis, prognosis, and treatment, we reviewed tests that have been assessed by recommendation and guideline developers.

Methods: For each test, we marked translational milestones by determining when the genomic association with cancer was first discovered and studied in patients, and when a health application for a specified clinical use was successfully demonstrated and approved or cleared by the US Food and Drug Administration. To identify recommendations and guidelines, we reviewed the websites of cancer, genomic, and general guideline developers and professional organizations. We searched the in vitro diagnostics database of the US Food and Drug Administration for information, and we searched PubMed for translational milestones. Milestones were examined against type of recommendation, Food and Drug Administration approval or clearance, disease rarity, and test purpose.

Results: Of the 45 tests we identified, 9 received strong recommendations for their usage in clinical settings, 14 received positive but moderate recommendations, and 22 were not currently recommended. For 18 tests, two or more different sources had issued recommendations, with 67% concordance. Only five tests had Food and Drug Administration approval, and an additional five had clearance. The median time from discovery to recommendation statement was 14.7 years.

Conclusion: In general, there were no associations found between translational trajectory and recommendation category.Genet Med 17 6, 431-440.

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Conflict of interest statement

DISCLOSURE

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1. Search strategy and selection of cancer genomic tests
Figure 2
Figure 2. Time from discovery to earliest recommendationa for cancer genomic tests, by recommendation category
aEarliest recommendation of the same type as the most recent recommendation.
See this image and copyright information in PMC

References

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