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The business of genomic testing: a survey of early adopters.

Authors :
Crawford JM
Bry L
Pfeifer J
Caughron SK
Black-Schaffer S
Kant JA
Kaufman JH
Source :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2014 Dec; Vol. 16 (12), pp. 954-61. Date of Electronic Publication: 2014 Jul 10.
Publication Year :
2014

Abstract

Purpose: The practice of "genomic" (or "personalized") medicine requires the availability of appropriate diagnostic testing. Our study objective was to identify the reasons for health systems to bring next-generation sequencing into their clinical laboratories and to understand the process by which such decisions were made. Such information may be of value to other health systems seeking to provide next-generation sequencing testing to their patient populations.<br />Methods: A standardized open-ended interview was conducted with the laboratory medical directors and/or department of pathology chairs of 13 different academic institutions in 10 different states.<br />Results: Genomic testing for cancer dominated the institutional decision making, with three primary reasons: more effective delivery of cancer care, the perceived need for institutional leadership in the field of genomics, and the premise that genomics will eventually be cost-effective. Barriers to implementation included implementation cost; the time and effort needed to maintain this newer testing; challenges in interpreting genetic variants; establishing the bioinformatics infrastructure; and curating data from medical, ethical, and legal standpoints. Ultimate success depended on alignment with institutional strengths and priorities and working closely with institutional clinical programs.<br />Conclusion: These early adopters uniformly viewed genomic analysis as an imperative for developing their expertise in the implementation and practice of genomic medicine.

Details

Language :
English
ISSN :
1530-0366
Volume :
16
Issue :
12
Database :
MEDLINE
Journal :
Genetics in medicine : official journal of the American College of Medical Genetics
Publication Type :
Academic Journal
Accession number :
25010053
Full Text :
https://doi.org/10.1038/gim.2014.60