Integrating Large-Scale Genomic Information into Clinical Practice Workshop Summary (2012) / Chapter Skim
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8 Envisioning the Future
8 Envisioning the Future
Pages 57-64
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From page 57... ...
Mark Boguski of Harvard Medical School countered that individual grant-supported databases do not constitute a sustainable business model and will not be able to achieve the kind of long-term quality and oversight needed for clinical applications. Henry Greely of Stanford University agreed and asked if, instead, a non-profit organization could examine genetic information, publicly disseminate a proposed interpretation, and then welcome comments from experts.
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From page 58... ...
is an appropriate organization to maintain a genomic database. Rehm observed that NCBI has not had much experience with clinically curated environments, but she said that it "has done an amazing job at providing resources in real time to the community, and we should leverage that." Boguski countered by noting that NCBI is not a health care delivery organization but rather a library that stores archival data that people use infrequently.
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From page 59... ...
As Monzon observed, sequencing cancer genomes also uncovers germline sequence information, but in sequencing cancer genomes there tends to be a much more direct link between acquired mutations and the disease. "There are intrinsic differences in the data that you are generating about somatic mutations .
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From page 60... ...
A PUBLIC HEALTH APPROACH TO GENOMIC MEDICINE Muin Khoury of the CDC asked how genomic medicine can progress from clinical validity to clinical utility. How will it be possible to document the value added and the social benefits of genomic information in large populations?
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From page 61... ...
The best approach for scientists and clinicians, he said, may be to figure out how the technology can be used in ways that are the most helpful and least harmful. Rehm observed that many cancer patients are involved in a research study even as they are being treated.
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From page 62... ...
"I don't think any kind of physician or health provider is looking for more work to do unless they can be shown that it is going to somehow make outcomes better or make their jobs easier," Korf said. Boguski added that in some cases it may be necessary for patients to help educate health care providers about the utility of genetic tests.
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From page 63... ...
"There is no consistency in the system." Rehm noted that this issue is not specific to laboratory reimbursement and that the fee-for-service, as opposed to an outcome-based, reimbursement system is "a universal problem that every specialty needs to address." THE ROLE OF INDUSTRY Private-sector companies, such as sequencing technology manufacturers and pharmaceutical companies, are integral players in genomic medicine, Rehm said, but those companies must recognize the differences between operating in a clinical environment and a research environment. For example, changes in technologies can undermine extensive validation that has been done with specific platforms.
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