Assessing Genomic Sequencing Information for Health Care Decision Making Workshop Summary (2014) / Chapter Skim
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1 Introduction
1 Introduction
Pages 1-4
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The clinical use of DNA sequence information relies on the identification of linkages between diseases and genetic variants or groups of variants. Depending on the clinical setting, large-scale DNA sequencing may be used to identify germline/inherited or somatic/acquired mutations.
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The value of genetic sequence information will depend on how it is used in the clinic, said David Veenstra, professor in the pharmaceutical outcomes research and policy program in the Department of Pharmacy at the University of Washington and chair of the workshop. Evidence is a driver of key health care decisions, and it is used to determine whether a treatment or procedure is reimbursed.
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A particular focus of these presenters was the "actionability" of specific genetic variants -- that is, whether these variants warrant clinical action -- and how it is determined whether a specific genetic variant is actionable. In short, this chapter examines the foundations upon which clinical decisions involving genomic evidence are made; the details of how these decisions are made are discussed in the three chapters that follow Chapter 2.
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These themes include consistency of gathering, analyzing, grading, and reimbursing the collection of genomic data; developing collaborations for generating and applying genomic data; and considering patient preferences when using genomic information in the clinic. Other topics were also addressed by a panel of discussants, including the challenges for genomic medicine; two such challenges that individual workshop participants identified are a lack of evidence and a lack of sequencing standards.
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