Loading in 2 Seconds...
Loading in 2 Seconds...
Whole Genome Sequencing and Incidental Findings in Clinical Laboratory Settings Mark E. Sobel, MD, PhD Executive Officer, Intersociety Council for Pathology Information Executive Officer, American Society for Investigative Pathology
Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.
and Incidental Findings in
Clinical Laboratory Settings
Mark E. Sobel, MD, PhD
Executive Officer, Intersociety Council for Pathology Information
Executive Officer, American Society for Investigative Pathology
Executive Officer Emeritus, Association for Molecular Pathology
Eighth Meeting of the CEER Investigators, NHGRI
October 16, 2012
An incidental finding is a finding concerning an individual in the course of conducting research that has potential health or reproductive importance and is discovered in the course of conducting research, but is beyond the aims of the study and is not anticipated in the research protocol.
Susan M. Wolf, et al. (2012). Genetics in Medicine, 12: 361-384.
What about incidental findings that occur in the course of clinical testing? Especially WGS!
Upon a patient’s request, the laboratory may provide access to completed test reports that, using the laboratory’s authentication process, can be identified as belonging to the patient.
42 CFR Part 493
September 14, 2011
Centers for Medicare & Medicaid Services (CMS)
According to the HIT Policy Committee, CLIA regulations are perceived by some stakeholders as imposing barriers to the exchange of health information.
While individuals can obtain test results through the ordering provider, the advent of certain health reform concepts (e.g., individualized medicine and an individual’s active involvement in his or her own health care) may be best served by revisiting the CLIA limitations on the disclosure of laboratory test results.
42 CFR Part 493
Retain the existing provisions that provide for release of test reports to authorized persons….
Amend the Health Insurance Portability and Accountability Act of 1996 (HIPAA) Privacy Rule to provide individuals the right to receive their test reports directly from laboratories by removing the exceptions for CLIA-certified laboratories and CLIA-exempt laboratories.
The introduction of high-throughput, next-generation sequencing (NGS) in 2005 heralded a critical and transformative step in the history of DNA sequencing.
This report of the Whole Genome Analysis group of the Association for Molecular Pathology illuminates the opportunities and challenges associated with clinical diagnostic genome sequencing. With the reality of clinical application of next-generation sequencing, technical aspects of molecular testing can be accomplished at greater speed and with higher volume, while much information is obtained. Although this testing is a next logical step for molecular pathology laboratories, the potential impact on the diagnostic process and clinical correlations is extraordinary and clinical interpretation will be challenging. We review the rapidly evolving technologies; provide application examples; discuss aspects of clinical utility, ethics, and consent; and address the analytic, postanalytic, and professional implications. (J Mol Diagn 2012, 14:525540; http://dx.doi.org/10.1016/j.jmoldx.2012.04.006)
Although the NGS platforms differ in design and specific chemistries, they are fundamentally related by a paradigm in which sequencing of spatially separated, clonally amplified DNA templates or single DNA molecules is performed in a massively parallel manner.
All NGS technologies offer the ability to simultaneously sequence thousands to millions of relatively short nucleic acid sequences in parallel. They can provide orders of magnitude more information, at competitive costs, when large regions of the genome are sequenced.
for the Study of Bioethical Issues