Rapid advances in technology have lowered the cost of sequencing an individual's genome from the several billion dollars that it cost a decade ago to just a few thousand dollars today and have correspondingly greatly expanded the use of genomic information in medicine. Because of the lack of evidence available for assessing variants, evaluation bodies have made only a few recommendations for the use of genetic tests in health care. For example, organizations, such as the Evaluation of Genomic Applications in Practice and Prevention working group, have sought to set standards for the kinds of evaluations needed to make population-level health decisions. However, due to insufficient evidence, it has been challenging to recommend the use of a genetic test. An additional challenge to using large-scale sequencing in the clinic is that it may uncover "secondary," or "incidental," findings - genetic variants that have been associated with a disease but that are not necessarily related to the conditions that led to the decision to use genomic testing. Furthermore, as more genetic variants are associated with diseases, new information becomes available about genomic tests performed previously, which raises issues about how and whether to return this information to physicians and patients and also about who is responsible for the information.
To help develop a better understanding of how genomic information is used for healthcare decision making, the Roundtable on Translating Genomic-Based Research for Health of the Institute of Medicine held a workshop in Washington,DC in February 2014. Stakeholders, including clinicians, researchers, patients, and government officials, discussed the issues related to the use of genomic information in medical practice. Assessing Genomic Sequencing Information for Health Care Decision Making is the summary of that workshop. This report compares and contrasts evidence evaluation processes for different clinical indications and discusses key challenges in the evidence evaluation process.
Institute of Medicine. 2014. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press. https://doi.org/10.17226/18799.
|2 How Evidence Is Gathered and Evaluated||5-30|
|3 Patient Care and Health Decisions||31-42|
|4 The Development of Practice Guidelines||43-50|
|5 How Insurers Decide Whether to Pay for Testing||51-60|
|6 Addressing Challenges||61-66|
|Appendix A: Workshop Agenda||73-80|
|Appendix B: Speaker Biographical Sketches||81-96|
|Appendix C: Statement of Task||97-98|
|Appendix D: Registered Attendees||99-106|
The Chapter Skim search tool presents what we've algorithmically identified as the most significant single chunk of text within every page in the chapter. You may select key terms to highlight them within pages of each chapter.
The National Academies Press (NAP) has partnered with Copyright Clearance Center's Rightslink service to offer you a variety of options for reusing NAP content. Through Rightslink, you may request permission to reprint NAP content in another publication, course pack, secure website, or other media. Rightslink allows you to instantly obtain permission, pay related fees, and print a license directly from the NAP website. The complete terms and conditions of your reuse license can be found in the license agreement that will be made available to you during the online order process. To request permission through Rightslink you are required to create an account by filling out a simple online form. The following list describes license reuses offered by the National Academies Press (NAP) through Rightslink:
Click here to obtain permission for the above reuses. If you have questions or comments concerning the Rightslink service, please contact:
Rightslink Customer Care
Tel (toll free): 877/622-5543
To request permission to distribute a PDF, please contact our Customer Service Department at 800-624-6242 for pricing.
To request permission to translate a book published by the National Academies Press or its imprint, the Joseph Henry Press, pleaseclick here to view more information.