Practices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications
Article first published online: 22 APR 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 5, pages 935–950, May 2013
How to Cite
2013. Practices and policies of clinical exome sequencing providers: Analysis and implications. Am J Med Genet Part A 161A:935–950., , , , , , .
- Issue published online: 22 APR 2013
- Article first published online: 22 APR 2013
- Manuscript Accepted: 17 FEB 2013
- Manuscript Received: 18 DEC 2012
- National Institutes of Health/National Human Genome Research Institute. Grant Numbers: 1U54HG006493, 5R00HG004316, 5R01HG006618
- Life Sciences Discovery Fund. Grant Numbers: 2065508, 0905001
- Washington Research Foundation
- exome sequencing;
- whole genome sequencing;
- informed consent;
- data sharing;
- return of results;
- ethical implications
Exome and whole genome sequencing (ES/WGS) offer potential advantages over traditional approaches to diagnostic genetic testing. Consequently, use of ES/WGS in clinical settings is rapidly becoming commonplace. Yet there are myriad moral, ethical, and perhaps legal implications attached to the use of ES and health care professionals and institutions will need to consider these implications in the context of the varied practices and policies of ES service providers. We developed “core elements” of content and procedures for informed consent, data sharing, and results management and a quantitative scale to assess the extent to which research protocols met the standards established by these core elements. We then used these tools to evaluate the practices and policies of each of the 6 U.S. CLIA-certified labs offering clinical ES. Approaches toward informed consent, data sharing, and results return vary widely among ES providers as do the overall potential merits and disadvantages of each, and more importantly, the balance between the two. © 2013 Wiley Periodicals, Inc.