Details:

Alternative Title:
Genet Med
Personal Author:
Chang, Christine Q. ; Tingle, Sharna R. ; Filipski, Kelly K. ; Khoury, Muin J. ; Lam, Tram Kim ; ... More +
Chang, Christine Q. ; Tingle, Sharna R. ; Filipski, Kelly K. ; Khoury, Muin J. ; Lam, Tram Kim ; Schully, Sheri D. ; Ioannidis, John P.A. Less -
Description:
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.


Subject:
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Article
Cancer
Genetic Testing
Genomics
Recommendations And Guidelines
Translational Research

Source:
Genet Med. 17(6):431-440.
Pubmed ID:
25341115
Pubmed Central ID:
PMC4686861
Document Type:
Journal Article
Funding:
CC999999/Intramural CDC HHS/United States
Collection(s):
CDC Public Access
Main Document Checksum:
[+]
urn:sha256:09ffbce1ed081e5bbc0e42a3b7e83666bea9694baa7011bc0b642197deb741df
File Type:

Supporting Files

• 	NIHMS744223-supplement-Supplementary_Table_S1.pdf	pdf
  	NIHMS744223-supplement-Supplementary_Table_S2.pdf	pdf
  	NIHMS744223-supplement-Supplementary_Table_S3.pdf	pdf
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  	nihms744223f1.gif	gif
  	nihms744223f1.jpg	jpeg
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