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Assessing Genomic Sequencing Information for Health Care Decision Making - Workshop Summary (Paperback)
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Assessing Genomic Sequencing Information for Health Care Decision Making - Workshop Summary (Paperback)
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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. Table of Contents
Front Matter 1 Introduction 2 How Evidence Is Gathered and
Evaluated 3 Patient Care and Health Decisions 4 The Development of
Practice Guidelines 5 How Insurers Decide Whether to Pay for
Testing 6 Addressing Challenges References Appendix A: Workshop
Agenda Appendix B: Speaker Biographical Sketches Appendix C:
Statement of Task Appendix D: Registered Attendees
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