Innovations in Service Delivery in the Age of Genomics Workshop Summary (2009) / Chapter Skim
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4 Vision of the Future
4 Vision of the Future
Pages 33-40
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Despite these important advances in genomic technology that have affected health care and health outcomes, many uncertainties have yet to be fully addressed. How does one match the potential promise of genomics with particular health conditions?
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Some family histories indicate an increased risk of colorectal cancer, and some do not. About 7 to 10 percent of the population has a family history indicating a moderately increased risk of colorectal cancer, while fewer than 1 percent have "high-risk" family histories (such as those with early-onset cancer occurring sequentially in multiple generations)
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From page 35... ...
R01463 Figure 4-1 As genome-wide association studies identify all of the genetic contributors to colon cancer risk, including common gene variants with modest effects on risk, it will likely be possible to create a genomic test to identify the 7 to 10 percent of people with moderately increased risk, rather than relying on traditional assessment of family history. A test of this kind could have several benefits: It wouldn't depend on imperfect recall or knowledge of family history, it might result in reduced misclassification, the blood test could be less costly than spending the time to collect family history, and screening of patients could potentially be tailored better than with family history if gene variants in the test panel were associated with polyp dwell time (the time a non-cancerous growth takes to evolve into cancer)
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Currently, the best example of the cascade effect is in the field of radiological imaging. As imaging becomes more sensitive, health care providers are discovering unanticipated incidental findings of uncertain clinical significance.
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. it is effective, for whom it will enhance outcomes, and how it should be implemented or interpreted." Lessons learned from the health technology assessment process described by Eisenberg can be applied to emerging genomic technologies.
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The resulting guidelines and associated educational material need to be made available in direct and simple language that is readily accessible by the public and health care providers. Discussion Wylie Burke, M.D., Ph.D., Moderator One participant asked that Burke envision the year 2020 and describe her idea of the role of a genetics professional.
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Although most genetic risks are similar to other kinds of risks (e.g., cholesterol level, blood pressure) , there are two ways in which genomic risk assessment may pose particular problems: the breadth of the proposed risk assessment process and the fact that some data suggest that people respond differently to risk assessments delivered by a DNA test versus a family history.
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Unless a result changes the course of prevention or treatment, genetic testing does not provide any new information for either the provider or the patient. Another participant said that the standard provider reaction to a genetic test is to give the patient the same preventive message given to all patients, even when the patient's genes signal that there is something different about his or her biology and that standard preventive measures may not have the same effect for that patient.
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